Hallazgo Incidental de Tumor Estromal Gastrointestinal en Divertículo de Meckel. Caso Clínico

Introducción: El divertículo de Meckel es un defecto sacular ubicado en el íleon distal, con una tasa de complicaciones de 4%. La resección quirúrgica está indicada en estas complicaciones, siendo controversial en casos asintomáticos o incidentales. Dentro de las complicaciones existen tumores como los estromales gastrointestinales (GIST). Caso Clínico: Hombre de 57 años, postrado por múltiples factores, presenta úlcera por presión sacra grado IV sobreinfectada y con evolución tórpida. Se decide realizar colostomía terminal, evidenciando un divertículo de Meckel en el intraoperatorio con aspecto sospechoso, por lo cual se decide resecar, resultando en un GIST de bajo riesgo. Se mantiene en seguimiento por 6 meses, sin recidiva tumoral. Discusión: Mientras que la cirugía pareciera ser imperativa en complicaciones, aún existe debate respecto a las indicaciones de resección de divertículo de Meckel hallado incidentalmente en el intraoperatorio por cirugía de otra causa. Si bien puede aumentar la morbimortalidad, la resección estaría indicada según ciertas características como edad, sexo, tamaño y aspecto, dado el riesgo de desarrollo de complicaciones y neoplasias.

Introduction: Meckel's diverticulum is a saccular defect located in the distal ileum, with a complication rate of 4%. Surgical resection is indicated when these complications occur, yet resection in asymptomatic or incidental cases remains controversial. Among these complications, the appearance of tumors such as gastrointestinal stromal (GIST), may occur. Case Report: A 57-year-old male, bedridden due to multi- ple factors, presents with a complicated grade IV sacral pressure ulcer with a torpid evolution. An end colostomy is performed, evidencing a suspicious-looking Meckel's diverticulum intraoperatively, which was resected and resulted to be a low-risk GIST. At a 6-month follow-up, the patient showed no evidence of tumor recurrence. Discussion: While surgery seems to be imperative in complications, there is still a debate regarding the indications for resection of Meckel's diverticulum found incidentally intraoperatively due to surgery for another cause. Although it could increase morbidity and mortality, resection could be indicated according to certain characteristics such as age, sex, size and appearance, given the risk of developing complications and neoplasm.

Condroma pulmonar y paraganglioma carotídeo como manifestaciones de la tríada de Carney: reporte de un caso / Pulmonary chondroma and carotid paraganglioma as expressions of Carney's triad: report of a case

Resumen Objetivos: Presentar caso clínico y revisión de la literatura sobre asociación de tumores poco frecuentes compatibles con diagnóstico de tríada de Carney. Paciente y Métodos: Revisión de ficha clínica de paciente de sexo femenino de 39 años de edad con antecedentes de asma, quien acude a servicio de urgencias por síntomas respiratorios. En estudio con imágenes se evidencia masa pulmonar en lóbulo superior derecho probablemente hamartoma y masa en la bifurcación carotídea izquierda compatible con posible paraganglioma. Se completó el estudio con endoscopia digestiva alta sin evidencia de tumor gástrico y PET-CT (tomografía de emisión de positrones-tomografía computarizada) que descartó otras lesiones. Resultados: La paciente fue sometida a resección quirúrgica de ambos tumores (pulmonar y carotídeo). En estudio histopatológico diferido, se plantean los diagnósticos de paraganglioma carotideo y hamartoma pulmonar, el cual, luego de una segunda revisión histopatológica, es corregido a condroma pulmonar. Discusión: La tríada de Carney se compone por la asociación de al menos 2 de 3 tumores: tumor estromal gastrointestinal (GIST), paraganglioma extra-adrenal y condroma pulmonar. Su expresión es variable, coexistiendo en forma completa en solo el 22% de los casos. Conclusión: Los pacientes con sospecha de tríada de Carney deben recibir evaluación multidisciplinaria, estudio completo en búsqueda de tumores asociados y seguimiento a largo plazo por posibles recurrencias o metástasis.

Objective: To present a clinical case and review of the literature on the infrequent association of pulmonary and extra thoracic tumors compatible with Carney's triad. Patient and Methods: Review of clinical records of a 39 years-old female patient with history of asthma who presented in the emergency department with respiratory symptoms. An imaging study showed a pulmonary mass in the right upper lobe with the aspect of hamartoma and a mass in the left carotid artery bifurcation compatible with a possible paraganglioma. Upper gastrointestinal endoscopy showed no evidence of gastric tumor and a PET-CT (Positron Emission Tomography - Computed Tomography) excluded other lesions. Results: Patient underwent surgical resection of both tumors (pulmonary and carotid). Diagnosis of carotid paraganglioma and pulmonary hamartoma were stated by histopathology. However, lung tumor after a second pathological analysis was confirmed to be a pulmonary chondroma. Discussion: Carney's triad is defined by the association of at least 2 of 3 tumors: Gastrointestinal Stromal Tumor (GIST), extraadrenal paraganglioma and pulmonary chondroma. Its expression is variable, coexisting completely in only 22% of cases. Conclusion: Patients with suspected Carney's triad should receive a multidisciplinary assessment, a complete study searching associated tumors and long-term follow-up for recurrences or metastases.

Tumores estromales gastrointestinales (GIST) gástricos, serie de casos / Gastrointestinal stromal tumors (GIST). Case series

Resumen Introducción: Los tumores estromales gastrointestinales (GIST) representan hasta el 2 % de las neoplasias gastrointestinales, estos aparecen en cualquier parte del tracto gastrointestinal y son encontrados más frecuentemente en el estómago (60 %). El diagnóstico se realiza por la expresión de un receptor de factor de crecimiento de tirosina-cinasa, antígeno de diferenciación (CD) 117, lo que lo diferencia de los otros tumores mesenquimales como leiomiomas, leiomiosarcomas, leiomioblastomas y tumores neurogénicos, que no expresan esta proteína. Objetivo: El objetivo de nuestro trabajo es caracterizar los GIST de localización gástrica con respecto a su presentación clínica, diagnóstico, manejo, recurrencia y supervivencia. Métodos: Se trata de un estudio observacional, retrospectivo basado en una serie de casos. Se realizó una extracción de la información por medio de la revisión de las historias clínicas de los pacientes con GIST gástricos en un centro oncológico de Bogotá entre enero de 2005 y diciembre de 2015. La información recolectada incluyó tipo de manejo y abordaje quirúrgico, localización, tamaño, índice mitótico y clasificación de riesgo. Resultados: Se encontraron 31 pacientes con diagnóstico de GIST gástrico. La edad media fue de 62,3 años, con una mediana de 61 años. De los 31 pacientes, 18 fueron mujeres y 13 hombres. El tiempo de seguimiento estuvo entre un mínimo de 2,4 meses y un máximo de 214 meses, La mediana de seguimiento fue de 36 meses. Conclusiones: Los GIST son tumores potencialmente malignos, y el de localización gástrica es el más frecuente. El diagnóstico y tratamiento dependen de su tamaño y localización dentro del estómago. El manejo es variado y consiste en la resección quirúrgica, en la que los procedimientos son mínimamente invasivos, en combinación con la endoscopia, que son una buena alternativa al tratamiento abierto hasta que haya necesidad de terapia sistémica.

Abstract Introduction: Gastrointestinal stromal tumors (GIST) account for up to 2% of gastrointestinal neoplasms. They may appear anywhere in the gastrointestinal tract and are most frequently found in the stomach (60%). The diagnosis is made based on the expression of the tyrosine-protein kinase KIT CD117, which differentiates it from other mesenchymal tumors such as leiomyomas, leiomyosarcomas, leiomyoblastomas, and neurogenic tumors, that do not express this protein. Objective: To characterize the clinical presentation, diagnosis, treatment, recurrence, and survival of GISTs in the stomach. Materials and methods: This is an observational retrospective study based on a case series. Data was collected after reviewing the medical records of patients diagnosed with GIST at a cancer center in Bogotá between January 2005 and December 2015. The data included type of treatment and surgical approach, location, size, mitotic index, and risk classification. Results: There were 31 patients diagnosed with GIST. Their mean age was 62.3 years, with a median of 61 years. Of the 31 patients, 18 were women and 13 were men. Follow-up time ranged from a minimum of 2.4 months to a maximum of 214 months. The median follow-up time was 36 months. Conclusions: GISTs are potentially malignant tumors, with gastric location being the most frequent. Diagnosis and treatment depend on their size and location in the stomach. Treatment options vary, ranging from surgical resection, where minimally invasive procedures along with endoscopy are a suitable alternative to open surgery, to the need for systemic therapy.

A rectal gastrointestinal stromal tumor - a plea for neoadjuvant imatinib and TAMIS / Tumor estromal gastrointestinal no reto - um caso de uso de imatinibe neoadjuvante e TAMIS

Abstract Here we describe an infrequent case of gastrointestinal stromal tumor of the rectum in a 57 year-old man with spindle cell neoplasm probably gastrointestinal stromal tumor and CT scan showed tumor from the anterior rectal wall and offered abdominoperineal resection for the same. The patient was started on imatinib and had a significant reduction in symptoms. The patient was reassessed with the CT scan, which showed a reduction in tumor size and Transanal minimally invasive surgery was planned for the patient. Use of imatinib prior to surgical resection to attain the reduced size of the tumor within the limit of resection is an attractive approach. Since tumor development can happen rapidly again after substantial tumor shrinkage, the best time to operate depending on resectability and the maximum therapeutic outcome remains divisive.

Resumo No presente estudo, os autores descrevem um caso raro de tumor estromal gastrointestinal no reto em um homem de 57 anos que se apresentou com neoplasia de células fusiformes, com provável tumor estromal gastrointestinal. A tomografia computadorizada demonstrou tumor na parede anterior do reto e foi sugerida sua ressecção abdominoperineal. O paciente iniciou tratamento com imatinibe e apresentou uma redução significativa nos sintomas. O paciente foi reavaliado por tomografia computadorizada, que evidenciou redução do tamanho do tumor; portanto, foi indicada cirurgia transanal minimamente invasiva. O tumor era ressecável e foi necessário um extenso acompanhamento para romper o órgão, de forma a alcançar a ressecção máxima; caso contrário, o tumor estromal gastrointestinal também seria irressecável. O uso de imatinibe antes da ressecção cirúrgica para reduzir o tamanho do tumor dentro do limite de ressecção é uma abordagem interessante. Como o tumor pode se crescer rapidamente após ser substancialmente reduzido, a literatura ainda apresenta controvérsias quanto ao melhor momento para operar e quanto ao melhor desfecho terapêutico.

Giant gastrointestinal stromal tumor of the proximal ileum / Tumor estromal gastrointestinal gigante do íleo proximal

ABSTRACT The gastrointestinal stromal tumors (GIST) are rare and consist in mesenchymal neoplasms of the gastrointestinal tract, which may affect any part of the gastrointestinal tract, and is more frequent in stomach. We report a case of a 65-years-old male patient who presented a mass in the proximal ileum found by exploratory laparotomy. The patient underwent a segmental enterectomy with total resection of the tumor and free surgical margins with the pathological diagnosis of GIST, confirmed by immunohistochemistry (CD117).

RESUMEN Los tumores del estroma gastrointestinal (GIST) son raros, consisten en neoplasias de origen mesodérmico del tracto gastrointestinal y pueden acometer cualquier parte del tracto gastrointestinal, siendo más frecuentes en el estómago. Reportamos el caso de un paciente varón, de 65 años de edad, con una masa en el íleon proximal, descubierta mediante laparotomía exploratoria. Se ha realizado una enterectomía segmentaria, con la resección total del tumor y márgenes quirúrgicos libres. El diagnóstico anatomopatológico de GIST fue confirmado por inmunohistoquímica (CD117).

RESUMO Os tumores estromais gastrointestinais (GISTs) são raros, consistem em neoplasias mesenquimais do trato gastrointestinal e podem acometer qualquer parte do trato gastrointestinal, sendo mais frequentes no estômago. Relatamos o caso de um paciente do sexo masculino, 65 anos de idade, com uma massa em íleo proximal, descoberta em uma laparotomia exploradora. Foi realizada enterectomia segmentar com ressecção total do tumor e margens cirúrgicas livres, com o diagnóstico anatomopatológico de GIST confirmado por imuno-histoquímica (CD117).

Adenocarcinoma gástrico y tumor estromal del estómago sincrónico incidental / Gastric adenocarcinoma and incidental synchronous incidental gastrointestinal stromal tumor

Se presenta el caso de un paciente masculino de 73 años de edad operado por adenocarcinoma del antro gástrico. Se practicó gastrectomía subtotal distal más linfadenectomía D2. Durante el examen anatomopatológico de la pieza quirúrgica se encontró otro tumor pequeño en el espesor de la pared del antro cubierto por mucosa normal, separado del adenocarcinoma. El análisis histológico confirmó otra neoplasia incidental sincrónica, un tumor del estroma gastrointestinal de tipo fusiforme, positivo para el marcador tumoral CD117. El objetivo del trabajo es presentar esta asociación tumoral sincrónica, revisar sus características y las teorías etiopatogénicas actuales de esta condición sincrónica según la literatura especializada(AU)

A case is presented of a 73-year-old male patient who was operated for a gastric adenocarcinoma of the antrum. A distal subtotal gastrectomy plus D2 lymphadenectomy were practiced. During the anatomic and pathologic examination of the surgical piece, a second tiny tumor was found in the wall of the antrum and that was covered with a normal mucosa separated from the adenocarcinoma. The histologic examination confirmed another synchronous incidental neoplasm, a spindle-cell gastrointestinal stromal tumor, positive for the tumor marker CD117. This paper is aimed at presenting synchronous tumor entity, to review its characteristics and the current etiologic and pathogenic theories of this synchronic condition according to the specialized literature(AU)

Tumor del estroma gastrointestinal y trasplante renal / Gastrointestinal stromal tumor and renal transplant

El tumor estromal gastrointestinal (GIST) representa alrededor del 1% de todos los tumores digestivos y su aparición en pacientes trasplantados renales es infrecuente. Aproximadamente el 95% muestra tinción positiva para c-kit/CD117. DOG1 es un anticuerpo recientemente descrito que se sobre-expresa en los GIST, incluso en c-kit/ CD117 negativos. El diagnóstico preciso de GIST resulta imperativo, debido a la disponibilidad y la creciente eficacia de los inhibidores de la tirosina quinasa en estos tumores, incluso en el subgrupo c-kit/ CD117 negativo. Se presenta el caso de una mujer trasplantada renal inicialmente con GIST en intestino delgado y débil positividad para CD117 tratada con cirugía y recidiva tumoral a los tres años, pérdida de la expresión CD117 y tinción positiva para DOG1. Recibió tratamiento exitoso con imatimib sin presentar recaída tumoral durante un seguimiento de cinco años.

Gastrointestinal stromal tumor (GIST) accounts for nearly 1% of all gastrointestinal tumors. Its association with renal transplantation is not frequent. Approximately 95% of GIST show staining for CD177. DOG1 is a recently described monoclonal antibody that shows positivity even in the absence of CD177 staining. The diagnosis of GIST should be pursued because of the availability of very effective treatments with tyrosine-kinase inhibitors. Herein, we describe the case of a woman with renal transplant who presented a small bowel GIST and weak positivity for CD177, treated initially with surgery. Tumor recurrence was documented 3 years later and histopatology showed loss of CD177 staining and positivity for DOG1. She was treated with imatimib without further recurrence after five years of follow up.

Tumor del estroma gastrointestinal (TEGI): terapia adyuvante: ¿Cuánto tiempo? / For How Long Should Adjuvant Therapy for Gastrointestinal Stromal Tumors (GIST) Be Administered?

La cirugía es el tratamiento establecido para pacientes con tumor del estroma gastrointestinal (TEGI) primario completamente resecable. Luego de la cirugía, se pueden presentar recurrencias hasta en 50% de los casos en los 2 primeros años, especialmente en pacientes con alto riesgo. Esto justifica la terapia adyuvante con imatinib (IMB). Debido a la evidencia clínica, se sabe que 3 años de tratamiento es el tiempo establecido para pacientes con alto riesgo de recurrencia; sin embargo, también se conoce por los mismos estudios clínicos, que las recurrencias comienzan a detectarse de nuevo 6 a 9 meses después de suspender el medicamento. Se presentaron 3 pacientes llevados a cirugía con resección completa de la lesión, quienes recibieron imatinib por 3 años. Meses después de suspender el medicamento, presentaron recurrencia, lo que obligó nuevamente su administración. La duración óptima del tratamiento adyuvante con IMB no está establecida, y no es claro si el IMB realmente cura la enfermedad. Por este motivo, se plantea la necesidad de revisar por cuánto tiempo se debe administrar la terapia adyuvante con IMB y el efecto que el IMB realmente tiene sobre la enfermedad. En conclusión, por la evidencia actual se sabe que la recomendación es de 3 años de tratamiento con IMB como terapia adyuvante, pero con base en la experiencia diaria y con las recomendaciones de expertos, existen pacientes que probablemente necesiten continuar con imatinib por mucho más tiempo mientras se informan los resultados de los estudios clínicos de 5 años de tratamiento con IMB.

Surgery is the established treatment for patients with primary gastrointestinal stromal tumors (GIST) that are completely resectable. After surgery, up to 50% of patients suffer recurrences in the first two years. This is especially true for high risk patients. This is the justification for adjuvant therapy with imatinib (IMB). Based on clinical evidence, three years is the established treatment time for patients at high risk of recurrence. However, the same clinical studies also show that recurrences begin to be detectable six to nine months after discontinuation of the drug. We present the cases of three patients who underwent complete resection of GIST who then received imatinib for three years. Months after the medication was discontinued, recurrences required administration of the drug to be restarted. The optimal duration of adjuvant therapy with IMB has not been established, and it is unclear whether IMB actually cures the disease. For this reason, a review of how long adjuvant therapy with IMB should be administered and of what the effect of IMB on the disease really is was needed. In conclusion, on the basis of currently available evidence, we know that the recommendation is three years of treatment with IMB as adjuvant therapy, but, based on daily experience and expert recommendations, there are patients who probably need to continue treatment with imatinib for much longer while we wait for reports of the results of clinical studies of five year IMB treatment.

Gastrointestinal stromal tumor of rectum diagnosed by three-dimensional anorectal ultrasound / Tumor estromal gastrointestinal de reto diagnosticado por ultra-sonografia anorretal tridimensional

ABSTRACT Gastrointestinal stromal tumors (GIST) are relatively rare lesions of mesenchymal origin, being more frequent in the stomach and small intestine. These are clinically asymptomatic lesions, and in advanced stages may present with nausea, vomiting, bleeding, abdominal pain, a palpable mass, and even intestinal obstruction. The only effective treatment consists of a complete tumor resection. We report two cases of GIST located in the distal rectum and evaluated with three-dimensional anorectal ultrasonography, a procedure of great value in identifying the size of the lesion, its involvement toward nearby structures and lymph node invasion.

RESUMO Os tumores estromais do trato gastrointestinal (GIST) são lesões relativamente raras de origem mesenquimal, sendo mais frequentes no estômago e intestino delgado. Clinicamente, são lesões assintomáticas e em estados avançados podem cursar com náusea, vômito, sangramento, dor abdominal, massa palpável e até obstrução intestinal. O único tratamento efetivo é a ressecção completa do tumor. Relatamos dois casos de GIST localizados no reto distal e avaliados com ultra-sonografia anorretal tridimensional, que se apresenta de grande valia na identificação do tamanho da lesão, acometimento de estruturas vizinhas e invasão linfonodal.

Resección laparoscópica de tumor del estroma gástrico / Laparoscopic resection of a gastric stromal tumor

Los tumores estromales gastrointestinales son los tumores mesenquimales más frecuentes del tracto digestivo. La mayor prevalencia de esta enfermedad se presenta en el estómago. El tratamiento de elección es la resección del área tumoral con márgenes histológicos sin linfadenectomia. Las técnicas de mínimo acceso muestran una alternativa muy favorable para el tratamiento de los tumores estromales gastrointestinales. Existen reportes aislados en la literatura de estos tumores tratados quirúrgica y oncológicamente. Por la escasa frecuencia con que se presenta la patología y los beneficios que brinda el acceso laparoscópico para su tratamiento, hemos realizado el presente trabajo con el objetivo de describir los aspectos clínicos del diagnóstico y tratamiento de un paciente que presenta tumor de páncreas versus tumor estromal gástrico. Se realiza laparoexploración donde se constata tumor de fundus gástrico, curvatura mayor y realiza resección tumoral laparoscópica. Con evolución favorable, confirmación inmunohistoquímica de tumores estromales gastrointestinales y seguimiento oncológico(AU)

Gastrointestinal stromal tumors are the most frequent mesenchymal tumors of the digestive tract. The highest prevalence of the disease is found in the stomach. The treatment of choice is resection of the tumor area with histological borders without lymphadenectomy. The minimal access techniques represent a very favorable alternative to treat gastrointestinal stromal tumors. There are few reports in literature about surgically and oncologically treated tumors of this type. The uncommon occurrence of this pathology and the benefits of laparoscopic techniques for treatment prompted us to present this paper in order to describe the clinical aspects of diagnosis and treatment of a patient who presented with pancreas tumor vs gastric stromal tumor. A laparoscopic examination was made to confirm the presence of a gastric fundus tumor and greater curvature, so laparoscopic tumor resection was performed, with favorable evolution, immunohistochemical confirmation of gastrointestinal stromal tumors and oncological follow-up(AU)

Tumor GIST grande en estómago: hallazgo incidental posterior a laparotomía. Presentación de un caso y revisión de la literatura / An incidental finding of a gastrointestinal stromal tumor (GIST) in the stomach following laparotomy: case report and literature review

Los tumores del estroma gastrointestinal (GIST) son las neoplasias mesenquimales más frecuentes del tubo digestivo. La frecuencia de GIST en países desarrollados se estima entre 6,5 a 14,5 casos por millón anualmente. La mayoría de ellos se originan en estómago (50% a 70%). La sintomatología de los pacientes varía desde síntomas abdominales inespecíficos hasta la presencia de dolor abdominal con o sin masa palpable. Una parte de estos pacientes son diagnosticados de forma incidental al ser sometidos a endoscopia de tamizaje o para diagnóstico de sangrado digestivo alto. Presentamos un caso de GIST que se presentó como sangrado digestivo alto luego de laparotomía por colecistectomía.

Salvamento de extremidad con resección extraarticular de rodilla / Limb-salvage surgery with extra-articular resection of the knee

Cuando tenemos un tumor óseo maligno del fémur distal con contaminación de la articulación, ya sea por extensión del tumor, fracturas secundarias al tumor con trazo intraarticular o contaminación en una biopsia tomada de manera inadecuada, debemos realizar resecciones extraarticulares de rodilla para lograr un control primario del tumor. Podemos emplear varias técnicas para lograr este fin, y una buena reconstrucción; la técnica que empleamos es la resección extraarticular más la preservación del mecanismo extensor, poco conocida en nuestro medio y de la cual es pionera el instituto Nacional de Cancerología. Con ella, hemos logrado un adecuado control tumoral primario de las lesiones óseas malignas en el fémur distal, menor número de complicaciones, una rápida rehabilitación y retorno a sus actividades habituales. Por esto, el interés de dar a conocer dicha técnica en los grupos de ortopedia oncológica, para que haga parte de su armamentario quirúrgico habitual.

When we encounter a malignant bone tumor in the distal femur with contamination of the joint, whether caused by tumor extension, secondary tumor fractures with intra-articular traces, or by contamination produced by inadequate taking of biopsies, extra-articular knee resection must be performed in order to achieve primary tumor control. Several methods are at our disposal to do so; our reconstruction technique of choice is that of extra-articular resection plus preservation of the extensor mechanism. this method is not well known locally; however, the National Cancer institute of Colombia has pioneered its use, thus allowing us to attain adequate primary tumor control in malignant bone lesions in the distal femur, with fewer complications, rapid rehabilitation and more immediate return to daily activities. We are, therefore, interested in sharing our expertise on this method with orthopedic oncologists so that they may include it their armory of standard surgical procedures.

Tumores estromales gastrointestinales en el Hospital Universitario del Caribe, Cartagena de Indias, Colombia, 2009-2011. Serie de casos / Gastrointestinal stromal tumors in the Hospital Universitario del Caribe, Cartagena de Indias, Colombia, 2009-2011. A case series

Los tumores estromales gastrointestinales son poco comunes. Representan neoplasias de células intersticiales de Cajal; especialmente, por mutaciones del receptor CD117 (c-Kit), cuya detección inmunohistoquímica confirma el diagnóstico, y para el cual existen inhibidores específicos (imatinib, sunitinib). Se describen las características clínicas, el diagnóstico, el tratamiento y el seguimiento de 6 casos (1 esofágico, 2 gástricos, 1 duodenal, 1 yeyunal y 1 colónico), de los cuales 4 son mujeres, y donde las edades oscilaron entre los 38 y los 78 años (promedio: 52). según cada caso, se evidencian manifestaciones (síndrome anémico, dolor y masa abdominal, etc.), las características operativas de los estudios imagenológicos y endoscópicos, y la histopatología. Hubo resección mínimamente invasiva en 2 pacientes, 1 sincronía con adenocarcinoma colorrectal y 2 casos de recurrencia. Los hallazgos son acordes con la literatura. Existen controversias respecto al pronóstico y la experiencia médica es limitada, por la escasa frecuencia, dado lo cual son necesarias las evidencias en torno a esta enfermedad. © 2012 Instituto Nacional de Cancerología. publicado por elsevier españa, S.L. todos los derechos reservados.

Gastrointestinal stromal tumors (GIST ) are uncommon. They are neoplasms of interstitial cells of Cajal, mainly due to receptor mutations CD117 (c-Kit), with their diagnosis being confirmed by immunohistochemical methods, and for which there are specific inhibitors (imatinib, sunitinib). We describe the clinical features, diagnosis, treatment, and follow-up of 6 cases (1 esophageal, two gastric, one duodenal, one jejunal and one colon), of which 4 were women, with an age range between 38 and 78 years (mean: 52). The signs and symptoms of each case are presented (anemic syndrome, abdominal pain and mass, etc.), as well as the operating characteristics of the imaging and endoscopic tests, and the histopathology. Minimally invasive resection was performed in 2 patients, 1 synchronous with colorectal adenocarcinoma and 2 cases of recurrence. The findings are consistent with the literature. There are controversies in prognosis, and medical expertise is limited by the low frequency, therefore, more evidence is needed about this disease.

Gastrointestinal stromal tumor, GIST.

Gastrointestinal neoplasia.

Tratamento adjuvante nos GISTs / Adjuvant treatment in GISTs

INTRODUÇÃO: O tumor estromal gastrointestinal (GIST) é o sarcoma mais comum do aparelho digestivo. Essa neoplasia ocorre devido à mutação do gene KIT com consequente ativação constitutiva da proteína KIT. O tratamento primário é cirúrgico e consiste na sua ressecção completa. Entretanto, alguns grupos de pacientes apresentam risco elevado de recorrência mesmo após operação com ressecção completa (R0), indicando diferenças no comportamento biológico. Estudos clínicos comprovaram a atividade clínica do mesilato de imatinibe, fazendo dele a primeira linha de tratamento padrão nos GISTs metastáticos ou irressecáveis, mudando muito o desfecho clínico dessa doença em relação aos benefícios anteriormente obtidos com a quimioterapia antineoplásica. MÉTODO: Foi realizada revisão da literatura com consulta nos periódicos das bases Medline/Pubmed, Scielo e Lilacs cruzando os descritores: tumor estromal gastrointestinal, Gist, tratamento, adjuvância. Além desta revisão foi adicionada a experiência pessoal dos autores. CONCLUSÃO: Melhor refinamento dos critérios de prognóstico tem permitido selecionar de forma mais adequada pacientes para o tratamento adjuvante com imatinibe. Os resultados de maior evidência até o momento respaldam o tratamento adjuvante por um ano, o que produz benefício significativo na sobrevida livre de recidiva, mas não na sobrevida global desses pacientes.

INTRODUCTION: Gastrointestinal stromal tumor (GIST) is the most common sarcoma of the digestive tract. This cancer occurs due to mutation of the KIT gene resulting in constitutive activation of KIT protein. The primary treatment is surgical and consists of complete resection. However, some groups of patients at high risk of recurrence even after surgery with complete resection (R0), indicate differences in biological behavior. Clinical studies have demonstrated the clinical activity of imatinib mesylate, making it the standard first-line treatment in metastatic or unresectable GISTs, changing the outcome of this disease in relation to the benefits obtained previously with cancer chemotherapy. METHODS: Was performed a literature review with consultation in Medline/Pubmed, Lilacs and Scielo crossing the key words: gastrointestinal stromal tumor, GIST, treatment, adjuvant treatment. In addition to this review was added to the authors' personal experience. CONCLUSION: Better refinement of prognostic criteria is allowed to select the most appropriate patients for adjuvant treatment with imatinib. The results are yet evident on basis of one year, which produces significant benefit in relapse-free survival but not overall survival in these patients.

GIST Yeyunal con Sangrado Digestivo de Origen Oscuro / Jejunal GIST with obscure gastrointestinal bleeding

Reportamos el caso de una mujer de 84 años con antecedentes de arritmia cardiaca y hemorroides. Tenía múltiples hospitalizaciones y transfusiones por anemia ferropénica sintomática; los estudios endoscópicos solo demostraron divertículos y pequeños pòlipos de colon. Posteriormente fue hospitalizada por presentar heces sanguinolentas de color rojo vinoso; la endoscopia alta indicó gastritis y la colonoscopia mostró pequeñas úlceras colónicas, un pólipo colónico y múltiples divertículos. Meses después, reingresó con hemorragia de origen oscuro; en esa ocasión se demostraron: gastritis, erosiones antrales, pequeños pólipos colónicos y úlceras colónicas en vías de cicatrización; la cápsula endoscópica mostró probable angiodisplasia en yeyuno medio, la enteroscopia anterógrada detectó en yeyuno proximal algunas lesiones eritematosas sin evidencia de sangrado activo. Volvió a ser hospitalizada por melena y dolor abdominal, la endoscopia alta mostró angiodisplasias gástricas y duodenales que fueron tratadas. El último ingreso indicó un tiempo de enfermedad de dos años, el episodio se caracterizó por presentar deposiciones rojo vinosas y anemia. La endoscopia mostró angiodisplasia gástrica, que fue tratada con termocoagulación con argón plasma. En el examen no presentó signos de descompensación hipovolémica. Enfocado como un problema de hemorragia digestiva de origen oscuro se repitieron varios exámenes endoscópicos sin resultados. Resangró estando hospitalizada, se realizó cápsula endoscópica que demostró sangrado agudo en yeyuno, se complementó con nueva enteroscopia anterógrada que mostró lesiones ulceradas de yeyuno, se marcó el área con tinta china y se indicó laparotomía exploratoria. En la intervención quirúrgica se encontró en borde antimesentérico de yeyuno, una tumoración redondeada (6x6x4.5 cm) de crecimiento extraluminal, que comprometía la pared sin adherirse a otras estructuras; se realizó resección del tumor y anastomosis yeyuno-yeyunal. El estudio histológico -con inmunohistoquímica- del espécimen mostró que se trataba de un Tumor Estromal Intestinal (GIST), de riesgo intermedio, patrón histológico fusiforme, con escasas mitosis, dependiente de la capa muscular propia del intestino delgado. En conclusión el presente caso se trata de una mujer con un GIST yeyunal cuya presentación clínica fue una hemorragia de origen oscuro que constituyó un problema diagnóstico y que gracias al advenimiento de los nuevos procedimientos endoscópicos (enteroscopia y cápsula endoscópica) fue localizada y posteriormente extirpada quirúrgicamente.

We report the case of a woman of 84 years with a history of cardiac arrhythmia and hemorrhoids. She had multiple hospitalizations and transfusions for symptomatic iron deficiency anemia, endoscopic studies showed only small diverticula and colon polyps. He was later hospitalized with bloody stools red wines, upper endoscopy and colonoscopy showed gastritis, small colonic ulcers, colonic polyp and multiple diverticula. Readmitted with bleeding of obscure origin, on that occasion showed gastritis, antral erosions, small ulcers, colon polyps and colon ulcers in the process of healing, capsule endoscopy showed angiodysplasia in jejunum, anterograde enteroscopy detected some erythematous lesions in proximal jejunum without evidence of bleeding. Again hospitalized for melena and abdominal pain, upper endoscopy revealed gastric and duodenal angiodysplasia were treated. The last entry indicated a time of two years disease, the current episode with wine-red colored stools, Hb: 8.4 g, for which he received two units of PG. Endoscopy showed gastric angiodysplasia, which was treated with thermocoagulation (argon plasma). In the entrance examination showed no signs of hypovolaemic decompensation. Approached as a problem of obscure gastrointestinal bleeding were repeated several endoscopic examinations without results. She re-bled being hospitalized, capsule endoscopy was performed showing acute bleeding in the jejunum, complemented by new anterograde enteroscopy that showed ulcerated lesions of the jejunum, the area was marked with indian ink. Exploratory laparotomy was indicated. In the surgical intervention it was in edge antimesentérico of yeyuno, a round tumor (6x6 cm) of extraluminal growth, which compromised the wall without sticking to other structure, Resection of the tumor and jejuno-jejunal anastomosis was realized. The histological study with immunohistochemistry showed an Intestinal Stromal Tumor (GIST), intermediate risk, histological pattern fusiform, with scarce mitosis; the lesion was dependent on the muscularis propria of the small intestine. In conclusion, this case involves a woman with a jejunal GIST whose clinical presentation was hemorrhage of unknown origin which was a diagnostic problem and thanks to the advent of new endoscopic procedures (enteroscopy and capsule endoscopy) could locate the place of injury and subsequent surgery.

Tumores estromais do trato gastrointestinal: revisão da literatura / Gastrointestinal stromal tumors: review of literature

De um modo geral, os tumores estromais gastrointestinais (GISTs) são raros, entretanto, são as neoplasias mesenquimais mais frequentemente identificadas no trato gastrointestinal (TGI) e representam 0,1 a 3 % de todos os tumores gastrointestinais. Seu diagnóstico é baseado no quadro clínico, nas características morfológicas, mas, sobretudo, pela presença da proteína c-KIT (CD117) detectada por método imunoistoquímico. Na maioria das vezes, são assintomáticos, descobertos incidentalmente por exames de imagem. Os fatores prognósticos mais importantes são o tamanho do tumor e o índice mitótico. A ressecção cirúrgica é a terapia de escolha e o quimioterápico mesilato de imatinibe, que está indicado nos casos de irressecabilidade ou doença metastática.

Tumor estromal gastrointestinal en duodeno / Gastrointestinal stromal tumor (GIST) of duodenum

Paciente mujer de 64 años de edad, quien hace dos años estuvo hospitalizada en otra institución para el tratamiento de un absceso en el lóbulo hepático derecho. Durante esa hospitalización se diagnosticó un tumor duodenal por tomografía; sin embargo, no se completó el estudio sobre este hallazgo. Previa a la actual hospitalización, la paciente estuvo internada en una clínica privada, donde fue tratada con antibióticos por una imagen sugestiva de "absceso organizado" en la cabeza del páncreas. Desde hace un mes presentaba fiebre, dolor abdominal y una masa palpable en el cuadrante superior derecho del abdomen. Se le realizó una tomografía espiral multicorte trifásica, con reconstrucción curvada de páncreas que permitió reconocer una tumoración ovoidea de 80 x 60 mm, con área de necrosis central e intenso realce del contraste (fase arterial), localizada entre la segunda y tercera porción duodenal, próxima a la cabeza de páncreas. La endoscopía alta demostró una compresión extrínseca en la tercera porción duodenal. La paciente fue sometida a una resección tumoral sin complicaciones y la histología del espécimen quirúrgico reveló un Tumor Estromal Gastrointestinal (GIST) Duodenal, de crecimiento transmural extraluminal. Presentamos el caso por ser una inusual presentación este tipo de tumores.

Female of 64 years old, who two years ago was hospitalized in another institution for treatment of an abscess in the right liver lobe. During that hospitalization, it was found a duodenal tumor by tomography; however, no further studies or follow up on this finding was done. Prior to actual hospitalization, she was seen in a private clinic and treated with antibiotics for a suggestive "organized abscess" in the pancreatic head diagnosed by tomography. She presented with fever, abdominal pain and a palpable abdominal tumor in the right upper quadrant for a month. We realized a three-phase multislice spiral tomography with pancreatic curved reconstruction, which allowed to identified an ovoid tumor of 80 x 60 mm, with an area of central necrosis and intense contrast enhancement (arterial phase), located between the second and third duodenal portion, near the head of the pancreas. An upper endoscopy showed an extrinsic compression of the third duodenal portion. The patient underwent tumor resection without complication and the histologic diagnosis of the surgical specimen revealed a duodenal stromal tumor (GIST) with extraluminal transmural growth. We presented this case because of its unusual presentation of this tumor.

GISTs múltiplos em neurofibromatose tipo 1: diagnóstico incidental em paciente com abdome agudo / Multiple GISTs in neurofibromatosis type 1: incidental diagnosis in a patient with acute abdomen

INTRODUÇÃO: Tem sido descrito na literatura incidência aumentada de tumores estromais gastrointestinais (GISTs) em portadores de neurofibromatose tipo 1. Estes tumores tipicamente ocorrem no intestino delgado e, frequentemente, são múltiplos.RELATO DO CASO: Diagnóstico incidental de GIST em um paciente portador de neurofibromatose tipo 1 com abdome agudo. No trans-operatório foi identificada apendicite retrocecal perfurada e massa neoplásica no jejuno proximal. A referida lesão ocupava aproximadamente 70% da circunferência do órgão e não apresentava invasão de estruturas adjacentes. Além disso, observaram-se dezenas de pequenos nódulos disseminados por toda a extensão do jejuno e íleo. O anatomopatológico revelou neoplasia compatível com GIST, com grau moderado de atipias, baixo índice mitótico (<5/50) e ausência de necrose. Na análise imunoistoquímica, as células neoplásicas foram positivas para CD-34 e CD-117 (c-KIT), e negativas para a desmina. Depois da operação, o uso do quimioterápico Imatinib foi indicado. Após período de acompanhamento de 12 meses, o paciente não demonstrou sinais de recidiva.CONCLUSÃO: A ocorrência de GISTs deve ser sempre lembrada na avaliação de pacientes com massas abdominais e neurofibromatose tipo 1, principalmente em intestino delgado. Muitas vezes o comportamento da neoplasia é favorável e o uso de Imatinib deve ser individualizado.

BACKGROUND: The literature described an increased incidence of gastrointestinal stromal tumors (GISTs) in patients with neurofibromatosis type 1. These tumors typically occur in the small intestine, and frequently are multiple. Often the behavior of the tumor in this association is more favorable than in sporadic cases.CASE REPORT: Incidental diagnosis of GIST was done in a patient with neurofibromatosis type 1 during treatment for acute abdomen. Trans-operatively was identified a retrocecal perforated appendicitis and a neoplastic mass in the proximal jejunum. The lesion occupied approximately 70% of the circumference of the organ and had no invasion of adjacent structures. Moreover, there were dozens of small nodules scattered throughout the length of the jejunum and ileum. The pathology revealed malignancy consistent with GIST, with moderate degree of atypia, low mitotic index (<5 / 50) and absence of necrosis. In immunohistochemical analysis, the neoplastic cells were positive for CD-34 and CD-117 (c-KIT), and negative for desmin. After surgery, the use of Imatinib chemotherapy was indicated. After a follow-up period of 12 months, the patient showed no signs of recurrence.CONCLUSION: GISTs should be considered in the presence of abdominal mass and neurofibromatosis type 1, affecting mainly small bowel. Sometimes Imatinib can be administered with good results in the control of the disease.

GIST: avaliações morfológica e imuno-histoquímica do prognóstico / GIST: morphological and immunohistochemical prognostic evaluation

INTRODUÇÃO: os tumores estromais gastrointestinais possuem amplo espectro biológico, variando desde lesões de comportamento benigno até aquelas de caráter maligno, capazes de ampla disseminação e frequentes metástases viscerais. Atualmente, o prognóstico está baseado num escore, denominado grau de risco. Entretanto, este sistema apresenta falhas, com tumores classificados como de riscos intermediário e baixo associados ao desenvolvimento de metástases. Desta forma, são necessários estudos que visem ao aprimoramento desse sistema de classificação, destacando-se nesse campo, nos últimos anos, o índice de proliferação celular que tem mostrado valor prognóstico na predição da agressividade tumoral. OBJETIVOS: analisar critérios morfológicos (tamanho macroscópico, topografia do tumor, índice mitótico, necrose, subtipo histológico), verificar o grau de risco e pesquisar a aplicabilidade dos marcadores imuno-histoquímicos (actina músculo-específico, proteína S-100, Ki67 e p16ink4a) como fatores prognósticos do tumor estromal gastrointestinal (GIST). RESULTADOS: a análise univariada mostrou significância com tumores maiores que 5 cm, número de mitoses maior que 5/50 CGA, presença de necrose, de grau de risco alto e índice de proliferação celular (Ki67) maior que 5 por cento com relação à redução da sobrevida global dos pacientes (p = 0,017; 0,01; 0,001; 0,016; < 0,001 respectivamente). Os outros fatores analisados (subtipo histológico, imunofenótipo e p16ink4a) não mostraram significância. CONCLUSÃO: o grau de risco, o tamanho tumoral, o índice mitótico e a presença de necrose corroboram evidências prévias da sua utilização, como fatores morfológicos prognósticos e o emprego do índice de proliferação celular (Ki67) associado ao grau de risco para melhor esclarecimento do comportamento biológico dos GIST.

INTRODUCTION: Gastrointestinal stromal tumors (GIST) have a wide biological spectrum, ranging from benign to malignant lesions, which are prone to wide spread and frequent visceral metastasis. Currently, the prognosis is based on a score system known as risk level. However, this system has some drawbacks. For instance, tumors classified as low or intermediate risk may be associated with the development of metastasis. Therefore, studies are required to improve this classification system and incorporate recent developments such as cellular proliferation index, which has shown prognostic value in the prediction of tumor aggressiveness. OBJECTIVES: To analyze morphological criteria (macroscopic size, tumor topography, mitotic index, necrosis, histological subtype), observe risk and investigate the usefulness of immunohistochemical markers (muscle-specific actin, S-100 protein, Ki67 and p16ink4a) as prognostic markers of GIST. RESULTS: Univariate analysis showed that a reduced global survival was significantly associated with tumor size greater than 5cm, mitotic index greater than 5/50 CGA, presence of necrosis, a high risk level, and a cellular proliferation index (Ki67) higher than 5 percent on the reduction of overall survivel of patients (p = 0.017, 0.010, 0.001, 0.016 and 0.0005, respectively). Other factors such as histological subtype, immunophenotype and p16ink4a were not significant. CONCLUSION: According to our data, risk level, tumor size, mitotic index and the presence of necrosis stood as morphological predictors of reduced survival, which underpins previous evidence of their application. The cellular proliferation marker Ki67 associated with risk level also proved to be a useful predictor of tumor aggressiveness.

Intussuscepção intestinal secundária a tumor do estroma gatrointestinal (GIST) / Intussusception due to a gastrointestinal stromal tumor (GIST)

O presente artigo relata o caso de um paciente idoso com sinais e sintomas de obstrução intestinal. Após realização de exames de imagem e intervenção cirúrgica, o diagnóstico final foi compatível com intussuscepção intestinal decorrente de tumor estromal gastrintestinal. O presente artigo relata o caso de um paciente idoso com sinais e sintomas de obstrução intestinal. Após realização de exames de imagem e intervenção cirúrgica, o diagnóstico final foi compatível com intussuscepção intestinal decorrente de tumor estromal gastrintestinal.

We report a case of an elderly patient with signs and symptoms of intestinal obstruction. The final diagnosis was intestinal intussusception secondary to a gastrointestinal stromal tumor.We report a case of an elderly patient with signs and symptoms of intestinal obstruction. The final diagnosis was intestinal intussusception secondary to a gastrointestinal stromal tumor.