Clinical significance of pathological diagnosis and genetic abnormalities detection in gastrointestinal stromal tumor using endoscopic biopsy / 中华病理学杂志

Objective: To investigate the clinical significance of pathological diagnosis and genetic abnormalities detection of gastrointestinal stromal tumor (GIST) using endoscopic biopsy. Methods: Patients with GIST diagnosed by endoscopic biopsy (from January 1st, 2016 to August 1st, 2018, at Zhongshan Hospital, Fudan University) were included in this study. This retrospective study evaluated the histopathologic and immunohistochemical (IHC) features, genetic abnormalities of the tumors and the treatment and clinical course of the patients. Results: Totally 4 095 cases of GIST were collected, among which 67 patients (67/4 095, 1.6%) underwent endoscopic biopsy. Forty-eight patients (71.6%) were male and 19 (28.4%) were female, with a mean age of 61 years (range 31-90 years). Fifty-nine lesions were located in stomach and eight in duodenum. Of all the 67 cases, 47 were spindle type, 14 were epithelioid type, and 6 mixed type. IHC staining showed the positive rates were 100.0% (64/64) for DOG1, 98.4% (62/63) for CD117, 87.5% (56/64) for CD34, 3.6% (2/56) for S-100 protein, 12.1% (7/58) for α-SMA, 12.3% (7/57) for desmin and 4.0% (2/50) for CKpan. Morphologically, 34 cases were malignant; three cases (all epithelioid type) were originally misdiagnosed as poorly differentiated carcinoma; missed-diagnosis were found in four cases (spindle type) due to the insufficient diagnostic tumor cells. The genetic abnormality detection rate in the biopsy tissue was 38.8% (26/67),among them two patients were lost to follow up after biopsy, 33 patients received surgical resection, 16 cases underwent operation after neoadjuvant therapy and 16 patients with advanced disease underwent continuous imatinib therapy, with the genetic testing rate of 6.1% (2/33), 10/16 and 14/16, respectively. Conclusions: Endoscopic biopsy is a useful but rare method for the preoperative diagnosis of GIST. For majority of biopsy, accurate pathological diagnosis and auxiliary examination can be completed to guide clinical treatment. A thorough history in combination with endoscopic finding is essential to avoid misdiagnosis (epithelioid type) and missed diagnosis (spindle type) in suspicious cases. Genetic testing should be recommended in patients who will undergo targeted therapy after endoscopic biopsy, and it can provide valuable information and guidance for clinical treatment.

Tumor de GIST, presentación no habitual / GIST tumor: an unusual presentation

RESUMEN El tumor estromal gastrointestinal representa el 3% de las neoplasias gastrointestinales; es el tumor mesenquimático más frecuente. Afecta a hombres mayores de 50 años. El 80% son benignos, la mayoría afectan el estómago e intestino delgado. La incidencia de localización extragastrointestinal es desconocida. Paciente masculino de 56 años, tabaquista, obeso, con hipertensión arterial (HTA) y diabético (DBT), anticoagulado, consulta por dolor en fosa ilíaca derecha, posterior a esfuerzo físico. Se realiza tomografía computarizada (TC) donde se visualiza lesión de aspecto expansivo intraperitoneal que muestra realce periférico. Se decide conducta quirúrgica. Se halla un tumor mesentérico. En su presentación, estos tumores hasta en un 60% suelen ser asintomáticos por lo que resultan solo un hallazgo imagenológico; es indispensable, pues, su sospecha clínica y fundamentalmente el aporte de la inmunohistoquímica para la definición de la patología. El CD 117 es el principal marcador. Su tratamiento de preferencia es siempre quirúrgico, acompañado de tratamientos quimioterápicos.

ABSTRACT Gastrointestinal stromal tumors (GISTs) account for < 3% of gastrointestinal neoplasms and are the most common mesenchymal tumors. They are more common in men > 50 years. They are benign in 80% of the cases and usually occur in the stomach and small intestine. The incidence of extragastrointestinal GISTs is unknown. A 56-year-old male patient sought medical care for abdominal pain in the right iliac fossa that appeared after exercising. The patient was a current smoker, obese, had a history of hypertension (HTN) and diabetes (DBT) and was receiving anticoagulants. A computed tomography (CT) scan showed an expansive mass within the peritoneum with peripheral enhancement. Surgical management was decided. During the procedure, a tumor was found in the mesentery. Up to 60% of these tumors are usually asymptomatic and are incidentally found in imaging tests; therefore, clinical suspicion and, most importantly immunohistochemistry, are essential for the diagnosis. CD117 is the main marker. Surgery is the treatment of choice for GISTs and chemotherapy is also indicated.

GIST gástrico complicado. Una forma de presentación inusual / Complicated gastric GIST. An unusual presentation

RESUMEN Los tumores GIST son un motivo de consulta cada vez más frecuente en las entrevistas de cirugía gastroenterológica. Suelen ser derivados como hallazgos incidentales o por presentar síntomas derivados de su crecimiento. Se presenta el caso clínico de una paciente que requirió internación de urgencia por síndrome anémico agudo. Se comenta su algoritmo diagnóstico y su resolución quirúrgica. Asimismo se comentan los estándares de diagnóstico y tratamiento actuales con especial foco en la estrategia quirúrgica, la cual debe ser individualizada según cada caso.

ABSTRACT Gastrointestinal stromal tumors (GISTs) are becoming an increasingly common reason for consultation in gastroenterology surgery interviews. Patients are usually referred for surgery due to an incidental finding or symptoms associated with tumor growth. We report the case of a female patient who required urgent hospitalization due to acute anemic syndrome. The diagnostic algorithm and surgical approach are described. The current standards of diagnosis and treatment are also discussed, with special focus on the surgical strategy, which must be tailored to each case.

GIST duodenal asociado a hemorragia digestiva alta: reporte de caso / Duodenal GIST associated with upper gastrointestinal bleeding: case report

Resumen Introducción Los tumores del estroma gastrointestinal (GIST) corresponden al 1% de todas las neoplasias gastrointestinales, sin embargo, sólo el 3-5% de estos se desarrollan en el duodeno. Objetivo Reportar el caso de un paciente masculino con localización atípica de un tumor de estroma gastrointestinal y su manejo. Caso clínico paciente masculino de 50 años con antecedente de traumatismo encefalo craneano (TEC) con daño orgánico cerebral secundario, tabaquismo, consumidor de alcohol ocasional y sometido a quistectomía branquial en la infancia, que consulta en el servicio de urgencias por cuadro de hemorragia digestiva alta con compromiso hemodinámico. Tras realizar endoscopia digestiva alta (EDA), resonancia nuclear magnética (RNM) y tomografía computada (TC) de abdomen, se pesquisa masa tumoral en segunda porción de duodenal. Discusión A pesar de que la presentación clínica de los GIST es variable, lo más frecuente es que sean pacientes asintomáticos. En algunas ocasiones, al igual que en este reporte, pueden presentarse con dolor abdominal y/o hemorragia digestiva alta. El diagnóstico preoperatorio fue difícil ya que el estudio con imágenes (TC, RNM, EDA) sólo permite establecer la sospecha; el diagnóstico definitivo se realizó con biopsia (no contamos con endosonografía en nuestro centro). Debido a los sitios de reparo anatómico, no existe una cirugía estandarizada; en este caso, debido a la localización, infiltración y características, se decidió realizar una pancreatoduodenectomía.

Introduction Gastrointestinal stromal tumors (GIST), corresponds to 1%, of all gastrointestinal neoplasms, however, only 3%-5% developed in duodenum. Aim To report a case of a male patient with atypical location of gastrointestinal stroma tumor and the treatment proposed. Case report 50-year-old male patient, with medical history of organic brain damage secondary a traumatic brain injury, smoker, occasional alcohol consumer and branquial cystomy during childhood. Consulted in the emergency department for a high digestive hemorrhage case with hemodynamic compromise. Upper digestive endoscopy, computed tomography and nuclear magnetic resonance were performed, which impresses tumor-like lesion in the second duodenal portion. Discussion Although the GIST clinical presentation is variable, most often they are asymptomatic patients. In some times, as in this report, they may present with abdominal pain and/or upper gastrointestinal bleeding. The preoperative diagnosis was difficult, because the imaging study (CT, RNM, EDA) only stablished the suspicion and the final diagnosis was made by biopsy (we don't have endosonography in our center). Due to the anatomic repair, there is not a standardized surgery, in this case, due tumor location, infiltration and characteristics, it was decided to perform a pancreatoduodenectomy.

Clinic-pathological aspect of gastro-intestinal stromal tumors at tertiary care Hospital India / Aspecto clínico e patológico dos tumores estromais gastrointestinais em hospital terciário da Índia

Abstract Background This study defines the disease profile in south Indian population and determine the clinic-pathological aspects of Gastro-Intestinal Stromal Tumors. Method In this prospective study patients diagnosed of gastrointestinal stromal tumors were taken thorough clinical examination and a database of Anthropometric details and clinical details were analyzed. Pathological data included tumor size, presence or absence necrosis, mitotic counts, immunohistochemistry for CD-117, CD-34. Results There were 44 patients with confirmed diagnosis of gastro-intestinal stromal tumor. The highest incidence was found in the 6th decade. The most common symptoms were abdominal pain and gastrointestinal bleed. Stomach was most frequent site for gastro-intestinal stromal tumors. Immunochemistry for CD-117 was positive in 93.18% cases. Majority of tumors (79.5%) had pure spindle cell morphology and mitotic activity showed that 34% of the GISTs were of the high risk group. Forty two patients were suggestive of surgery as the primary treatment after presentation. Conclusion Abdominal pain was the most common presenting complaint. Majority of the tumors aroused from the stomach. The majority of the tumors had pure spindle cell morphology and 93% of the tumors were CD-117 positive. A significant relationship between tumor size, tumor necrosis and mitotic activity with large tumors having necrosis and high mitotic rate having high risk of malignancy, was observed. Surgical resection is considered mainstay of treatment of gastro-intestinal stromal tumor. Imatinib therapy should be given to patients in moderate to severe risk categories.

Resumo Justificativa Este estudo define o perfil da doença na população do sul da Índia e determina os aspectos clínicos e patológicos dos tumores estromais gastrointestinais. Método Neste estudo prospectivo, os pacientes diagnosticados com tumor estromal gastrointestinl foram submetidos a um exame clínico completo, e uma série de dados dos pacientes, incluindo detalhes antropométricos e clínicos, foram analisados. Os dados patológicos incluíram tamanho do tumor, presença ou ausência de necrose, contagem mitótica e imuno-histoquímica para CD-117, CD-34. Resultados Havia 44 pacientes com diagnóstico confirmado de tumor estromal gastrointestinal. A maior incidência foi encontrada na 6ª década de vida. Os sintomas mais comuns foram dor abdominal e sangramento gastrointestinal. O estômago foi o local mais frequente para tumores estromais gastrointestinais. A imuno-histoquímica para CD-117 foi positiva em 93,18% dos casos. A maioria dos tumores (79,5%) apresentava morfologia pura de células fusiformes e a atividade mitótica mostrou que 34% dos GISTs pertenciam ao grupo de alto risco. Quarenta e dois pacientes receberam indicação para cirurgia como tratamento primário após a apresentação. Conclusão A dor abdominal foi a queixa mais comum. A maioria dos tumores afetava o estômago, apresentava morfologia pura de células fusiformes e 93% eram CD-117 positivos. Foi observada uma relação significativa entre o tamanho do tumor, a necrose tumoral e a atividade mitótica, com os tumores grandes apresentando necrose e alta taxa mitótica com alto risco de malignidade. A ressecção cirúrgica é considerada o principal tratamento do tumor estromal gastrointestinal. A terapia com imatinibe deve ser administrada a pacientes em categoria de risco de moderadas a grave.

Tumor estromal gastrointestinal como causa infrecuente de hemoperitoneo / Gastrointestinal Stromal Tumor as a Rare Cause for Hemoperitoneum

RESUMEN El tumor estromal gastrointestinal es el tumor mesenquimático más frecuente y se caracteriza por la expresión de un receptor de factor de crecimiento tirosina kinasa, CD117 c-KIT/CD 117. Se diferencia del resto de los tumores mesenquimáticos en que no expresa esta proteína. Alrededor del 70 - 80 por ciento de estos tumores son benignos, la mayoría se localizan en estómago e intestino delgado (> 90 por ciento). Los tumores estromal gastrointestinal malignos son generalmente de gran tamaño (> 5 cm), con índice mitótico alto y pueden dar metástasis a hígado y peritoneo. El tratamiento es la resección quirúrgica. Presentamos una paciente con 65 años de edad que acudió al cuerpo de guardia por sufrir caída de sus pies y quejarse de dolor abdominal. Como datos positivos al examen físico se constató palidez cutáneo mucosa y los complementarios de urgencia. El ultrasonido y la tomografía axial computarizada informaron líquido libre en cavidad con cifras de hemoglobina en 6,4 g/L. La punción abdominal constató sangre roja que no coagulaba. Se realizó laparotomía exploratoria encontrando hemoperitoneo y gran tumoración en cara anterior del antro gástrico, con otra pequeña en la porción alta del cuerpo; se realizó resección local con bordes libres de tumor y se suturaron los bordes gástricos. El resultado de la biopsia informó tumor del estroma gastrointestinal de células fusiformes con bajo índice mitótico, que midió 13 x 8 x 8 cm, con marcada angiogénesis y zonas de calcificación(AU)

ABSTRACT Gastrointestinal stromal tumor is the most frequent mesenchymal tumor and is characterized by expression of a tyrosine kinase growth factor receptor, CD117 c-KIT/CD 117. It is different to the rest of mesenchymal tumors in that it does not express this protein. About 70-80 percent of these tumors are benign. The majority are located in the stomach and small intestine (more than 90 percent). Malignant gastrointestinal stromal tumors are usually large (over 5 cm in size), with a high mitotic index, and can metastasize to the liver and peritoneum. The treatment is surgical resection. We present a 65-year-old patient who came to the emergency room due to having fallen on her own feet and complaining of abdominal pain. As positive data to the physical examination, mucous and skin whitening and the emergency complement tests were analyzed. Ultrasound and CT scan reported free fluid in cavity with hemoglobin values at 6.4 g/L. The abdominal puncture showed red blood that did not clot. The exploratory laparotomy showed a hemoperitoneum and a large tumor in the anterior face of the gastric antrum, with a small one in the upper portion of the body; local resection with tumor-free borders was performed and the gastric borders were sutured. The result of the biopsy reported a spindle cell gastrointestinal stromal tumor with a low mitotic index, measuring 13x8x8 cm, with marked angiogenesis and areas of calcification(AU)

Tumor del estroma gastrointestinal de localización gástrica. Presentación de un caso / Gastrointestinal stromal tumor of gastric location. Case presentation

Los tumores estromales gastrointestinales son neoplasias que se originan en el tejido mesenquimal de la pared del tracto gastrointestinal. Se ha postulado que las células que originan estos tumores son las células intersticiales de Cajal, las cuales constituyen el marcapaso del tracto digestivo, se hallan en el plexo mientérico de Auerbach y responden al oncogén CD117, c-KIT. Pueden presentarse a cualquier edad pero tienen un pico de incidencia durante la sexta década de la vida. La localización más frecuente es en estómago. Tienen variedad de tamaños desde pocos milímetros hasta 20 cm o más. En este trabajo se presenta un paciente de 56 años de edad que fue ingresado en el centro hospitalario del territorio de Colón por presentar un cuadro de sangrado digestivo alto en forma de melena. Se le realizaron exámenes de laboratorio, estudios imagenológicos (Rx contrastado de estómago-duodeno, ultrasonido y TAC abdominal) y endoscopia digestiva superior. Se comprobó la presencia de una tumoración polipoide de 5 cm de diámetro en la región prepilórica gástrica. Fue sometido a operación quirúrgica y los resultados definitivos de Anatomía Patológica arrojaron un tumor del estroma gastrointestinal de bajo grado de malignidad (AU).

Gastrointestinal stromal tumors are neoplasias originated in the mesenchymal tissue of the gastrointestinal tract wall. It has been stated that cells originating these tumors are the Cajal´s interstitial cells, the digestive tract pacemaker, that are located in he Auerbach´s myoenteric plexus and answer to CD117, c-KIT oncogen. They may occur at any age but have an incidence peak during the sixth decade of life. The most common location is the stomach. There is a variety of sizes, from few millimeters to 20 cm or more. The case of a 56-years-old patient is presented in this work; he was admitted in the territorial hospital of Colon for presenting a high digestive bleeding in a melena form. Laboratory tests, imagine studies (contrasted Rx of stomach and duodena, abdominal ultrasound and CAT) and high digestive endoscopy were made. It was proved the presence of a 5 cm polypoid tumor in the gastric pre-pyloric region. It was surgically operated and the final results of Pathologic Anatomy showed a gastrointestinal stromal tumor of low level malignancy (AU).

ENDOSCOPIC ULTRASOUND IN THE EVALUATION OF UPPER SUBEPITHELIAL LESIONS / Ultrasson endoscópico na avaliação das lesões subepiteliais do trato digestivo alto

BackgroundEndoscopic ultrasound is considered the best imaging test for the diagnosis and evaluation of subepithelial lesions of the gastrointestinal tract.ObjectiveThe present study aims to describe the endosonographic characteristics of upper gastric subepithelial lesions and our experience using endoscopic ultrasound for evaluation of such lesions.MethodsRetrospective data study of 342 patients who underwent endoscopic ultrasound evaluation of subepithelial lesions.ResultsLesions of the fourth layer were more common in the stomach (63.72%) than in the esophagus (44.68%) and duodenum (29.03%). In stomach, 81.1% of the lesions ≥2 cm, and 96.5% ≥3 cm, were from the fourth layer. Endosonographic signs that could be related to malignant behavior, such as irregular borders, echogenic foci, cystic spaces and/or size greater than 3 cm were identified in 34 (15.81%) lesions at the first endoscopic ultrasound evaluation. Endoscopic ultrasound-fine needle aspiration did the diagnosis in 21 (61.76%) patients who were submitted a puncture. Three (12.0%) lesions of 25 who were submitted to regular endoscopic ultrasound surveillance increased the size.ConclusionStomach is the organ most affected with subepithelial lesions of the gastrointestinal tract and the fourth layer was the most common layer of origin. More than 80% of gastric subepithelial lesions from the fourth layer are ≥2 cm. Endoscopic ultrasound evaluation of subepithelial lesions has been very important for stratification into risk groups and to determine the best management.

ContextoA ecoendoscopia é considerada o melhor método de imagem para diagnosticar e avaliar as lesões subepiteliais do trato digestivo.ObjetivoO presente estudo tem como objetivo fazer uma análise dos casos submetidos a ecoendoscopia para avaliação de lesões subepiteliais do trato digestivo alto.MétodosForam analisados de forma retrospectiva 342 pacientes submetidos a ecoendoscopia para avaliação de lesões subepiteliais.ResultadosLesões da quarta camada foram mais comuns no estômago (63,72%) do que no esôfago (44,68%) e no duodeno (29,03%). No estômago, 81,1% das lesões >2 cm, e 96,5% >3 cm, eram da quarta camada. Sinais endossonográficos que poderiam ser relacionados com o comportamento maligno, como bordas irregulares, focos ecogênicos, espaços císticos e/ou tamanho maior que 3 cm foram identificados em 34 lesões (15,81%) na primeira avaliação com ecoendoscopia. Aspiração por agulha fina guiada por ultrassom endoscópico fez o diagnóstico em 21 (61,76%) dos pacientes que foram submetidos a punção ecoguiada. Três (12,0%) lesões das 25, que foram submetidas a vigilância pela ecoendoscopia, aumentaram de tamanho.ConclusãoO estômago é o órgão mais afetado pelas lesões subepitelias do trato gastrointestinal alto, sendo a camada muscular própria a camada de origem mais comum. Mais de 80% das lesões gástricas subepiteliais da quarta camada são >2 cm. A avaliação ecoendoscópica das lesões subepiteliais tem sido muito importante para a estratificação em grupos de risco e para determinar a melhor conduta.

Tumores del estroma gastrointestinal: revisión de nuestra experiencia / Surgery of gastrointestinal stromal tumors: review of our experience in the last five years

Objective: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Surgical resection is the standard treatment for localized primary GISTs. The aim of the study is to present our 5-year surgical experience, as well as the results obtained in terms of survival and disease progression. Material and Method: We conducted a descriptive, retrospective study of primary GISTs treated in our center between 2009-2013. We analyze the most relevant variables, criteria of risk of progression according Fletcher's classification from National Institutes of Health and the Miettinem's classification from the Armed Forces Institute of Pathology, as well as analysis of relapse-free survival (RFS) with Kaplan-Meier survival curves. Results: We present a series of 30 patients. Mean age 65 years (40-84 years). The most common location was the stomach (n = 14, 46.6 percent). The surgery was R0 in 23 cases of 30. The mean tumor diameter was 5.3 cm (0.5-18). 14 patients received adjuvant treatment with Imatinib. After an average follow-up of 31.2 months (6-62 months), it was found relapse in 4 patients, progression and exitus in 1, exitus in 3 and exitus in the immediate postoperative period in 1. RFS at one year was 96.7 percent, and 89.2 percent at 4 years. Mean survival time was 56.2 months (95 percent CI 51.8-60.6). Conclusion: The recommended attitude after radical surgery is follow-up. In selected patients with risk of relapse, adjuvant treatment with Imatinib delays the progression of the disease and increases the survival.

Objetivo: Los tumores del estroma gastrointestinal son las neoplasias mesenquimales más frecuentes del tubo digestivo. La resección quirúrgica es el tratamiento estándar en los GISTs primarios localizados. El objetivo del estudio es presentar nuestra experiencia quirúrgica en 5 años, así como los resultados obtenidos en cuanto supervivencia y progresión de la enfermedad. Material y Método: Serie de casos, estudio observacional descriptivo retrospectivo, que analiza los resultados obtenidos en cuanto al tratamiento quirúrgico de GIST primarios sometidos a resección quirúrgica en nuestro centro entre 2009-2013. Todas las intervenciones fueron realizadas por personal del Staff y dentro de los protocolos de las unidades de cirugía hepato-biliar y esófago-gástrica. Se analizan las variables de mayor relevancia, criterios de riesgo de progresión según la clasificación de Fletcher del National Institutes of Health y la clasificación de Miettinem del Armed Forces Institute of Pathology, así como análisis de la supervivencia libre de recaída (SLR) con curvas de Kaplan-Meier. Resultados: Presentamos una serie de 30 pacientes. Edad media de 65 años (40-84 años). La localización más frecuente fue estómago (n = 14, 46,6 por ciento). La cirugía fue R0 en 23 de los 30 pacientes. El diámetro tumoral medio fue de 5,3 cm (0,5-18, con una mediana de 4 cm. Catorce pacientes recibieron tratamiento adyuvante con Imatinib. Tras un seguimiento medio 31,2 meses (6-62 meses), se detectó recaída en 4 pacientes, progresión y exitus en 1, exitus en 3 y exitus en el postoperatorio inmediato en 1. La SLR al año fue del 96,7 por ciento, siendo del 89,2 por ciento a los 4 años. El tiempo medio de supervivencia fue de 56,2 meses (IC 95 por ciento 51,8-60,6). Conclusiones: La actitud recomendada tras una cirugía radical es el seguimiento. En pacientes seleccionados con riesgo de recaída el tratamiento adyuvante con Imatinib retrasa la progresión de la enfermedad y aumenta la supervivencia.

Preoperative imatinib for patients with primary unresectable or metastatic/recurrent gastrointestinal stromal tumor

OBJECTIVES: Despite its rising popularity, reports on the use of preoperative imatinib mesylate (IM) in patients with advanced gastrointestinal stromal tumor (GIST) are limited. This study aims to explore the clinical efficacy of preoperative IM in patients with primarily unresectable or metastatic/recurrent GIST. METHODS: Between September 2009 and February 2014, patients with primarily unresectable or metastatic/recurrent GIST treated by a single medical team were recruited and considered for preoperative IM therapy. Re-examination was conducted regularly and abdominal enhanced CT data, blood biochemistry and responses to IM were recorded. RESULTS: A total of 18 patients were enrolled, including 13 with a primary tumor (7 stomach, 3 small bowel, 2 rectal and 1 pelvic tumor) and 5 with recurrent or metastatic GIST (2 with liver metastasis, 2 with anastomotic recurrence and 1 with pelvic GIST). The median follow-up time was 9.5 months (range of 3-63). The median tumor sizes before and after initiation of IM treatment were 9.1 cm and 6.0 cm (p = 0.003) based on the CT findings, respectively. All patients showed a decrease in tumor burden and the median tumor size reduction was 35%. Sixteen of the 18 patients showed a partial response to IM and two possessed stable disease. Nine of the 18 patients (50%) underwent surgical resection of primary or metastatic/recurrent tumors, with a median of 7 months of IM therapy. One case each of multivisceral resection and tumor recurrence were noted. CONCLUSIONS: IM as a preoperative therapy is feasible and safe for unresectable or metastatic/recurrent GIST that can effectively decrease tumor size, facilitating resection. .

Tumor maligno del estroma gastrointestinal extraintestinal (EGIST). Reporte de caso y revisión de la literatura / The extraintestinal gastrointestinal stromal malignant tumor. Case report and literature review

Gracias a la inmunohistoquímica los tumores sarcomatosos del tubo digestivo actualmente son conocidos como tumores del estroma gastrointestinal, cambiando el tratamiento y pronóstico de estas enfermedades. Objetivos: Analizar el caso a presentar y revisar bibliografía internacional, acercar el paradigma de los blancos moleculares a la población médica general. Diseño: retrospectivo. Descriptivo. Material y métodos: se realizó la revisión bibliográfica mediante búsqueda seleccionada sobre el tema en NCBI-Pubmed y revistas de oncología internacional. Resultados: El caso presentado pertenece a los denominados tumores del estroma gastrointestinal extraintestinal con CD117 negativo y positivo para CD34, haciéndolo un caso extremadamente raro de hallar. Conclusiones: el advenimiento de las terapias con blancos moleculares mejoran la sobrevida global y libre de enfermedad de estos pacientes, pero la cirugía continua siendo la única opción de curabilidad...

Submucosal tunneling endoscopic resection for upper gastrointestinal multiple submucosal tumors originating from the muscular propria layer: A feasibility study.

BACKGROUND AND AIMS: In recent years, submucosal tunneling endoscopic resection (STER) was applied more and more often for single gastrointestinal (GI) submucosal tumor (SMT). However, little is known about this technique for treating multiple SMTs in GI tract. In the present study, we investigated the feasibility and outcome of STER for upper GI multiple SMTs originating from the muscularis propria (MP) layer. PATIENTS AND METHODS: A feasibility study was carried out including a consecutive cohort of 23 patients with multiple SMTs from MP layer in esophagus, cardia, and upper corpus who were treated by STER from June 2011 to June 2014. Clinicopathological, demographic, and endoscopic data were collected and analyzed. RESULTS: All of the 49 SMTs were resected completely by STER technique. Furthermore, only one tunnel was built for multiple SMTs of each patient in this study. En bloc resection was achieved in all 49 tumors. The median size of all the resected tumors was 1.5 cm (range 0.8–3.5 cm). The pathological results showed that all the tumors were leiomyoma, and the margins of the resected specimens were negative. The median procedure time was 40 min (range: 20–75 min). Gas‑related complications were of the main complications, the rates of subcutaneous emphysema and pneumomediastinum, pneumothorax, and pneumoperitoneum were 13.0%, 8.7% and 4.3%. Another common complication was thoracic effusion that occurred in 2 cases (8.7%), among which only 1 case (4.3%) with low‑grade fever got the drainage. Delayed bleeding, esophageal fistula or hematocele, and infection in tunnel were not detected after the operation there were no treatment‑related deaths. The median hospital stay was 4 days (range, 2–9 days). No residual or recurrent lesion was found during the follow‑up period (median 18, ranging 3–36 months). CONCLUSION: Submucosal tunneling endoscopic resection is a safe and efficient technique for treating multiple esophageal SMTs originating from MP layer, which can avoid patients suffering repeated resections.

Gastrointestinal stromal tumor: Analysis of outcome and correlation with c-kit status in Indian population.

AIMS: The aim of the present study is to analyse the outcome and genotypic pattern of metastatic GIST patients which is largely unknown in India. MATERIALS AND METHODS: The present study was a retrospective analysis of 24 patients of metastatic GIST. The case records were analysed for clinical profile, treatment response and prognostic factors. The archival samples were retrieved for c‑kit mutation analysis in all but 5 patients for mutation analysis. RESULTS: The median age of the study population was 56 years. At a median follow up of 29 months, the PFS was 45% at 2 years. Activating c‑kit mutations were detected in 10 cases (52.6%). 80% of the mutations were located in Exon 11. CONCLUSIONS: The outcome of metastatic GIST patients has definitely improved from a virtually incurable state to a disease where median OS has reached 60 months. The genotype of Indian patients with GIST may be different from the western population which needs to be confirmed in a larger study.

Tomographic finiings of gastric gastrointestina stromal tumor and correlation with the mitotic index / Aspectos tomograficos do tumor estromal gastrointestinal de origem gastrica e correlacao com indice mitotico

Context Gastrointestinal stromal tumors are uncommon abdominal neoplasms and can affect any portion of the gastrointestinal tract. Objectives Describe the tomographic findings of the gastrointestinal stromal tumor of gastric origin, correlating it with the mitotic index. Methods Twenty-one patients were selected within the period of January 2000 and 2008, with histopathological and immunohistochemical diagnosis of gastric gastrointestinal stromal tumors, who presented computed tomography done before the treatment. The tomographic variables analyzed were lesion topography, dimensions, contours, morphology, pattern and intensity enhancement through venous contrast, growth pattern, invasion of adjacent organs, presence of ulceration, fistula, calcifications, infiltration of mesenteric fat, lymphadenopathy and metastasis. The mitotic index was determined through optic microscopy, counting the number of mitosis figures in 50 high power fields. Results The tumors were located in the body (66.7%) or gastric fundus (33.3%), with dimensions varying between 4.2 and 21.2 cm (average of 10.5 cm). The growth was predominantly extraluminal (47.6%) or intra/extra luminal (28.6%). The enhancement by venous contrast was heterogeneous in 66.7%. The statistical analysis showed that irregular morphology (P = 0.027) and infiltration of mesenteric fat (P = 0.012) presented correlation with the high mitotic index. Conclusions In the present study, most part of the tumors were located in the gastric body, with average size of 10.5 cm, presenting central hypo dense area, heterogeneous enhancement through contrast and predominantly extra luminal growth. Irregular morphology and infiltration of mesenteric fat present statistical correlation with high mitotic level. .

Contexto Tumores estromais gastrointestinais são neoplasias raras e podem acometer qualquer segmento do trato gastrointestinal. A tomografia computadorizada é o método de imagem mais importante na detecção e caracterização do tumor. Objetivos Descrever os achados tomográficos do tumor estromal gastrointestinal de origem gástrica, correlacionando com o índice mitótico. Métodos No período de janeiro de 2000 a dezembro de 2008, foram selecionados 21 pacientes com diagnóstico histopatológico e imunohistoquímico de tumor estromal gastrointestinal, que apresentavam tomografia computadorizada realizada anteriormente ao tratamento. As variáveis tomográficas analisadas foram topografia da lesão, dimensões, contornos, morfologia, padrão e intensidade do realce pelo meio de contraste venoso, padrão de crescimento, invasão de órgãos adjacentes, presença de ulceração, fístula, calcificações, infiltração da gordura mesentérica, linfonodomegalias e metástases. O índice mitótico foi determinado através de microscopia óptica, com contagem do número de figuras de mitoses em 50 campos de grande aumento. Resultados Os tumores foram localizados no corpo (66,7%) ou fundo gástrico (33,3%), com dimensões variando entre 4,2 e 21,2 cm (média de 10,5 cm). O crescimento foi predominantemente extraluminal (47,6%) ou intra/extraluminal (28,6%). O realce pelo contraste venoso foi heterogêneo em 66.7%. A análise estatística mostrou que morfologia irregular (P = 0.027) e infiltração da gordura mesentérica (P = 0,012) apresentaram correlação com índice mitótico elevado. Conclusões No presente estudo, a maioria dos tumores localizava-se no corpo gástrico, com tamanho médio de 10.5 cm, ...

Tumor del estroma extra gastrointestinal (E-GIST) gigante de omento / Extra gastrointestinal stromal tumor (E-GIST) of the omentum

Introduction: Tumors that are pathologically and immunohistochemically similar to gastrointestinal stromal tumors (GIST), but coming from soft tissues of the mesentery or retroperitoneum are called extra gastrointestinal stromal tumors (E-GISTs) and are more aggressive than GISTs. Clinical case: We report a 46 years old woman operated for a uterine sarcoma with a liver metastasis of the tumor, subsequently subjected to radiotherapy. A new CAT scan showed a 21 x 12 cm tumor. Radiotherapy was discontinued and the patient refused chemotherapy. Four years later, the patient consulted in the emergency room for a partial bowel obstruction. A new CAT scan showed a tumor that occupied the abdominal and pelvic cavity. The patient was operated, finding a highly vascularized and multisystem tumor that was fused together with the omentum, which was excised. The pathological diagnosis of the surgical piece was a high risk GIST.

Introducción: Los tumores del estroma gastrointestinal (GIST) fueron clasificados inicialmente dentro de otros grupos de tumores (leiomioma, leiomioblastoma, leiomiosarcoma), llamándolos leiomiomas bizarros o leiomiomas celulares debido a su apariencia histológica similar. Con el advenimiento de la microscopia electrónica se demostró que sólo algunos de estos tumores presentaban evidencias ultraestructurales de diferenciación muscular lisa. Posteriormente, los avances en la biología molecular y la inmunohistoquímica han permitido diferenciarlos de otras neoplasias digestivas e identificarlos como una patología clínica e histopatológica propia. Los tumores que histopatológicamente e inmunohistoquímicamente son similares a los GIST, pero proceden de los tejidos blandos del mesenterio o el retroperitoneo sin presentar conexión, ni siquiera tenue, con la pared ni con la superficie serosa de las vísceras, son denominanados tumores del estroma extragastrointestinal (E-GIST) y han mostrado tener un comportamiento más agresivo que los GIST originados a nivel gástrico y similar a los intestinales. Reporte del caso: Paciente de 47 años quien desarrolló durante 8 años un tumor abdominal, que resultó ser un tumor del estroma gastrointestinal de omento, sometida a tratamiento quirúrgico. En 18 meses no ha presentado recidiva tumoral.

Prediction of Risk of Malignancy of Gastrointestinal Stromal Tumors by Endoscopic Ultrasonography

BACKGROUND/AIMS: The accurate preoperative prediction of the risk of malignancy of gastrointestinal stromal tumors (GISTs) is difficult. The aim of this study was to determine whether tumor size and endoscopic ultrasonography (EUS) features can preoperatively predict the risk of malignancy of medium-sized gastric GISTs. METHODS: Surgically resected, 2 to 5 cm gastric GIST patients were enrolled and retrospectively reviewed. EUS features, such as heterogeneity, hyperechoic foci, calcification, cystic change, hypoechoic foci, lobulation, and ulceration, were evaluated. Tumors were grouped in 1 cm intervals. The correlations of tumor size or EUS features with the risk of malignancy were evaluated. RESULTS: A total of 75 patients were enrolled. The mean tumor size was 3.43+/-0.92 cm. Regarding the risk of malignancy, 51 tumors (68%) had a very low risk, and 24 tumors (32%) had a moderate risk. When the tumors were divided into three groups in 1 cm intervals, the proportions of tumors with a moderate risk were not different between the groups. The preoperative EUS features also did not differ between the very low risk and the moderate risk groups. CONCLUSIONS: Tumor size and EUS features cannot be used to preoperatively predict the risk of malignancy of medium-sized gastric GISTs. A preoperative diagnostic modality for predicting risk of malignancy is necessary to prevent the overtreatment of GISTs with a low risk of malignancy.

Tumor del estroma gastrointestinal y resolución laparoscópica: a propósito de un caso / Gastrointestinal tumor laparoscopic resolution: a case report

Paciente femenina 80 años acude por presentar epigastralgia, pirosis de 2 meses de evolución, se realiza endoscopia superior evidenciando lesión con compresión extrínseca en curvatura menor del estómago, biopsia negativa para malignidad, tomografía de abdomen y pelvis: tumor de 5 cm en curvatura y epiplón menor, eco endoscopia con punción: tumor que afecta pared muscular gástrica sin afección de mucosa sin extensión a órganos vecinos, punción: lesión fusocelular benigna, se plantea diagnóstico leiomioma vs. tumor del estroma gastrointestinal gástrico; se practica gastrectomía parcial vertical laparoscópica, márgenes macroscópicos negativos, evolución posoperatoria satisfactoria; biopsia definitiva: tumor del estroma gastrointestinal gástrico de bajo riesgo márgenes de 1 cm libres, valoración conjunta con medicina oncológica se decide en vista de las características biológicas resección quirúrgica completa, y edad de la paciente no amerita tratamiento adyuvante por lo que se mantiene en observación. La resección laparoscópica en el tratamiento de estos tumores gástricos es efectiva

Feminine patient 80 years present epigastralgia and pirosis 2 months of evolution, superior endoscopy is don edemonstrating an extrinsic lesion with compression in smaller curvature of stomach, whose negative biopsy for malignity, tomography of abdomen and pelvis reports 5 cm approximately tumor in smaller curvature and epiplon, endoscopic ultrasound with puncture reports: gastric muscular wall tumor without affection of mucosa without neighboring organ extension affects, and puncture injury:fusocelular benign, reason we considers: gastric diagnosis leiomioma vs. gastrointestinal stomach tumor; is taken a laparoscopic vertical partial gastrectomy, with margins macroscopic negatives, with satisfactory evolution post operating, definitive biopsy reports: tumor low risk with free margins of 1 cm; because for a complete surgical resection, in evaluation with oncologic medicine, decided in view of characteristics and age of the patient does not deserve adjuvant treatment reason why she stays in observation. Laparoscopic resection on this stomach tumor it’s an effective treatment

Desarrollo de resistencia secundaria a imatinib y tratamiento quirúrgico de un GIST gástrico maligno / Secondary imatinib resistance and surgical treatment of a malignant gastric GIST

Introduction. Gastrointestinal stromal tumors (GIST) constitute a pathological condition whose treatment require the interaction of surgical and pharmacological procedures in primary, recurrent, and metastatic disease. Herein, we discuss the case of a patient operated for malignant primary GIST who suffered recurrence of his disease secondary to the development of imatinib resistance. Case report: A male patient was operated on March 2007 because of a malignant gastric GIST, with wedge resection of the tumor. In June 2008, a computerized abdominal tomography scan (CT) showed the presence of nodules over the porta hepatis, mesocolon, greater omentum and gastric antrum; at this moment imatinib 400 mg/day was initiated. A new CT in June 2010, showed a cystic tumor in the right lower abdominal quadrant besides the previously described peritoneal implants, and surgical treatment was proposed. The surgical findings consisted on a big cystic GIST implanted over the greater omentum, and multiple epiploic nodules over the gallbladder and gastric antrum. All visible tumors were resected including the gallbladder and gastric antrum. A positron emission tomography taken on December 2010, described 2 small hypermetabolic peritoneal nodules. The imatinib dose was increased to 800 mg/day, and at the last control, one year after the last surgery, the CT did not show disease progression. Discussion: This case report illustrates the GIST’s malignant potential. The tumor developed imatinib resistance after an initial period of good response to the drug. To control the disease, a new surgical intervention and an increase in the dose of imatinib was required.

Introducción. Los tumores del estroma gastrointestinal (GIST) constituyen una condición patológica cuyo tratamiento requiere la interacción de procedimientos terapéuticos y farmacológicos en los tumores primarios, recurrencias y metástasis. Reportamos el caso de un paciente operado por un GIST primario que sufrió recurrencia secundaria a desarrollo de resistencia al imatinib. Caso clínico: Paciente que se operó en marzo de 2007 por un GIST gástrico maligno, realizándose resección en cuña del tumor. En junio de 2008, como parte del seguimiento, se tomó una tomografía abdominal que informó la presencia de nódulos en el hilio porta, mesocolon, epiplón mayor y antro gástrico, iniciándose tratamiento con imatinib 400 mg diarios. La tomografía realizada en junio de 2010 demostró en el hemiabdomen derecho un tumor quístico, además de los implantes previamente descritos. Con estos antecedentes se decidió el tratamiento quirúrgico. Los hallazgos consistieron en un GIST del epiplón mayor, múltiples lesiones epiploicas, vesiculares y del antro gástrico. Se decidió resecar todas las lesiones visibles, la vesícula biliar y el antro gástrico. Una tomografía por emisión de positrones de diciembre de 2010 describe 2 pequeños nódulos hipermetabólicos peritoneales. Se aumentó la dosis de imatinib a 800 mg diarios y en el último control a 1 año de la última cirugía, la tomografía no demostró progresión de la enfermedad. Discusión: El presente caso ilustra el potencial maligno de los GIST. El tumor desarrolló resistencia al imatinib después de un período inicial con buena respuesta. Para controlar la enfermedad se requirió una nueva intervención quirúrgica y aumento de la dosis de imatinib.

Nested stromal epithelial tumor of liver presenting with cushing syndrome: A rare case report.

Nested stromal and epithelial tumor of the liver is an extremely rare pediatric hepatic tumor. To the best of our knowledge, about 25 cases have been reported in the English literature so far, few of which accompanied with Cushing syndrome. Herein we report our experience with an 8-year-old boy presented with Cushing's syndrome because of ectopic ACTH production by this tumor.