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.

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.

Reporte de caso: metástasis gástrica de carcinoma endometrial, una localización inusual / Case report: gastric metastasis of endometrial carcinoma, an unusual localization

INTRODUCCIÓN: el carcinoma endometrial es la sexta entidad maligna más común a nivel mundial. En la mayoría de casos se diagnóstica de forma temprana. Recurre principalmente a cúpula vaginal y a nivel linfático, sin embargo, se han descrito metástasis a vagina, peritoneo y pulmones, entre otros. PRESENTACIÓN DEL CASO: paciente femenina adulta mayor con antecedente de carcinoma endometrial hace 7 años, tratado quirúrgicamente con estudio histopatológico que evidenciaba un miometrio infiltrado en un 95% sin invasión a otros órganos y linfadenectomía libre de lesión (estadio FIGO IB), quien consulta por dolor abdominal localizado en mesogastrio y deposiciones melénicas, evidenciándose una lesión gástrica, con resultado de biopsia que reporta carcinoma pobremente diferenciado con positividad focal para vimentina compatible con metástasis gástrica secundaria a carcinoma endometrial. Se indica manejo sistémico con quimioterapia, se documenta respuesta total de la lesión. DISCUSIÓN: las lesiones tumorales a nivel de estómago son primarios en su gran mayoría, una metástasis a este nivel es inusual. En el momento del diagnóstico de una metástasis gástrica, la mitad de las pacientes presentan concomitante compromiso de otros órganos. El carcinoma endometrial no está descrito dentro de los primarios que generan este compromiso. CONCLUSIÓN: el caso expuesto es un reto clínico, que representa un vacío en la evidencia actual; se comparte la experiencia de un manejo exitoso. Son necesarios más estudios para evaluar el pronóstico, opciones de tratamiento y definir la pertinencia de métodos de tamización para la detección temprana de estos casos.

INTRODUCTION: the endometrial carcinoma is the sixth cancer worldwide. Usually it is diagnosed in early stages. The sites of recurrence includes vaginal cuff and lymph nodes, however some metastasis have been described to vagina, peritoneum and lungs, among others. CASE REPORT: Elder female with history of an endometrial carcinoma 7 years ago, surgically treated. With histopathology that reported myometrial infiltration in a 95% without invasion to other organs and lymphadenectomy free of neoplasm (FIGO IB), who consult at the emergency room due to abdominal pain and black stool, with further studies that make evident a gastric lesion with biopsy reported as a poorly differentiated carcinoma, vimentin positive, compatible with gastric metastasis secondary to an endometrial carcinoma. Chemoterapy was indicated, documenting total posterior response of the lesion. DISCUSSION: Secondary lessions in stomach are rare. If they are present at the moment of diagnosis half of the patients concomitantly have metastasis in other organs. The endometrial carcinoma hasn't been described as a common localization that result in this compromise. CONCLUSION: the case exposed is a clinical challenge, a therapeutic success is shared. Limited evidence is available. Further studies are necessary to evaluate the prognosis, therapeutic options and to define the relevance of screening tests for early detection.

The role of conventional echoendoscopy (eus) in therapeutic decisions in patients with neuroendocrine gastrointestinal tumors / O papel da ecoendoscopia convencional nas decisões terapêuticas em pacientes com tumores neuroendócrinos gastrointestinais

ABSTRACT Background: Gastrointestinal neuroendocrine tumors are rare, usually presented as subepithelial or polypoid tumors. Accurate diagnosis and indication of the type of resection are still challenging. Aim: To determine the effectiveness of echoendoscopy in determining the depth of the lesions (T) identified by endoscopy in order to evaluate surgical and/or endoscopic indication, and to evaluate the results of endoscopic removal in the medium term. Methods: Twenty-seven patients were included, all of whom underwent echoendoscopy for TN tumor staging and the evaluation of possible endoscopic resection. The parameters were: lesion size, origin layer, depth of involvement and identified perilesional adenopathies. The inclusion criteria for endoscopic resection were: 1) high surgical risk; 2) those with NET <2 cm; 3) absence of impairment of the muscle itself; and 4) absence of perilesional adenopathies in echoendoscopy and in others without distant metastases. Exclusion criteria were TNE> 2 cm; those with infiltration of the muscle itself; with perilesional adenopathies and distant metastases. The techniques used were: resection with polypectomy loop; mucosectomy with saline injection; and mucosectomy after ligation with an elastic band. The anatomopathological study of the specimens included evaluation of the margins and immunohistochemistry (chromogranin, synaptophysin and Ki 67) to characterize the tumor. Follow-up was done at 1, 6 and 12 months. Results: Resections with polypectomy loop were performed in 15 patients; mucosectomy in five; mucosectomy and ligation with elastic band in three and the remaining four were referred for surgery. The anatomopathological specimens and immunohistochemical analyzes showed positive chromogranin and synaptophysin, while Ki 67 was less than 5% among all cases. The medium-term follow-up revealed three recurrences. The average size of tumors in the stomach was 7.6 mm and in the duodenum 7.2 mm. Well-demarcated, hypoechoic, homogeneous lesions occurred in 75%; mucous layer in 80%; and the deep and submucosal mucosa in 70%. Conclusions: Echoendoscopy proved to be a good method for the study of subepithelial lesions, being able to identify the layer affected by the neoplasm, degree of invasion, echogenicity, heterogeneity, size of the lesion and perilesional lymph node involvement and better indicate the treatment option.

RESUMO Racional: Tumores neuroendócrinos gastrointestinais são raros geralmente apresentados como tumores subepiteliais ou polipoides. O diagnóstico preciso e a indicação do tipo de ressecção ainda são desafiadores. Objetivo: Determinar a eficácia da ecoendoscopia em determinar a profundidade das lesões (T) identificadas pela endoscopia com objetivo de avaliar indicação cirúrgica e/ou endoscópica, e avaliar os resultados da remoção endoscópica em seguimento em médio prazo. Métodos: Foram incluídos 27 pacientes todos submetidos à ecoendoscopia para estadiamento tumoral TN e à avaliação de possível ressecção endoscópica. Os parâmetros estudados foram: tamanho da lesão, camada de origem, profundidade do acometimento e adenopatias perilesionais identificadas. Os critérios de inclusão para ressecção endoscópica foram: 1) risco cirúrgico elevado; 2) aqueles com TNE <2 cm; 3) ausência de comprometimento da muscular própria; e 4) ausência de adenopatias perilesionais na ecoendoscopia e em outros sem metástases à distância. Os critérios de exclusão foram TNE >2 cm; os com infiltração da muscular própria; com adenopatias perilesionais e metástases à distância. As técnicas utilizadas foram: ressecção com alça de polipectomia; mucosectomia com injeção de solução salina; e mucosectomia após a ligadura com banda elástica. O estudo anatomopatológico dos espécimes incluiu avaliação das margens e imunoistoquímica (cromogranina, sinaptofisina e Ki 67) para caracterizar o tumor. O seguimento foi feito com 1, 6 e 12 meses. Resultados: Ressecções com alça de polipectomia foram realizadas em 15 pacientes; mucosectomia em cinco; mucosectomia e ligadura com banda elástica em três e os quatro restantes foram encaminhados para cirurgia. O anatomopatológico dos espécimes e as análises imunoistoquímicas mostraram cromogranina e sinaptofisina positivas, enquanto que o Ki 67 foi menor que 5% dentre todos os casos. O seguimento em médio prazo revelou três recidivas. A média de tamanho dos tumores no estômago foi de 7,6 mm e no duodeno 7,2 mm. As lesões bem demarcadas, hipoecóicas, homogêneas ocorreram em 75%; da camada mucosa em 80%; e da mucosa profunda e submucosa em 70%. Conclusões: A ecoendoscopia mostrou ser bom método para o estudo de lesões subepiteliais podendo identificar a camada acometida pela neoplasia, grau de invasão, ecogeneicidade, heterogeneidade, tamanho da lesão e acometimento linfonodal perilesional e melhor indicar a opção de tratamento.

Laparoscopic resection of gastrointestinal stromal tumors (GIST) of the small intestine: a case report

Although gastrointestinal stromal tumors (GISTs) are a rare type of cancer, they are the commonest mesenchymal tumors of the gastrointestinal tract (GIT). GISTs can affect any segment of the GIT, but the usual location is the stomach, followed by the small intestine. Surgical resection of the tumor is the gold standard treatment for localized GISTs, and in patients with inoperable and metastatic disease, imatinib mesylate is the standard treatment. Pathological diagnosis is based on morphology and immunohistochemical findings. We report the case of a 55-year-old man with jejunal GIST presenting with endophytic and exophytic growth, located in the proximal jejunum. He had history of melena, anemia and one episode of enterorrhagia, and was treated with surgical resection of the lesion. (AU)

Tumores neuroendocrinos del tracto gastroenteropancreático. Estudio multicéntrico / Neuroendocrine tumors of the gastroenteropancreatic tract. A multicentric study

Introducción: Los tumores neuroendocrinos del tracto gastroenteropancreático constituyen un grupo infrecuente de neoplasias, de diagnóstico tardío y tratamiento complejo. Objetivo: Caracterizar clínica, macroscópica e histopatológicamente los tumores neuroendocrinos del tracto gastro enteropancreático. Material y Método: Se realizó un estudio observacional descriptivo de corte transversal, con 54 pacientes con diagnóstico histopatológico de estas neoplasias, confirmados por inmunohistoquímica, diagnosticados en el Instituto de Gastroenterología, Instituto Nacional de Oncología y Radiobiología y el Hospital Clínico-Quirúrgico Hermanos Ameijeiras, en el período 2008-2014. Resultados: El sexo femenino (66,7 por ciento y el grupo de edad de 50-69 años (48,1 por ciento), fueron los más frecuentes. La manifestación clínica más reportada fue el dolor abdominal (87 por ciento), seguido de las diarreas (16.7 por ciento), y del íctero (14.8 por ciento). Los tumores fueron más frecuentes en intestino delgado (31,5 por ciento) y páncreas (27,8 por ciento). La lesión endoscópica polipoidea se observó en 88,9% de los pacientes. La mayoría de los tumores midieron menos de 2 cm. Los tumores grado 1 y 2 tuvieron igual comportamiento en cuanto a frecuencia (40.7 por ciento). No hubo asociación estadísticamente significativa entre la localización del tumor, el tamaño y el grado histológico. Conclusiones: Predominó el sexo femenino y el grupo de edad de 50-69 años, el síntoma clínico más frecuente fue el dolor abdominal, las lesiones se localizaron con mayor frecuencia en intestino delgado y páncreas, con un predominio de la forma polipoide como patrón endoscópico y menores de 2 cm. No hubo asociación entre la localización anatómica, el tamaño de la lesión y la clasificación histopatológica(AU)

Tumor de estroma gastrointestinal en intestino delgado / Gastrointestinal stromal tumor in the small intestine

Aunque comprenden menos de 1 por ciento de todos los tumores gastrointestinales, los tumores de estroma gastrointestinal son los tumores mesenquimatosos más comunes del aparato digestivo. Son tumoraciones heterogéneas que varían en tamaño, morfología y conducta biológica. Se comportan virtualmente como tumores benignos hasta cánceres muy agresivos, muchas veces metastásicos. El tumor de estroma gastrointestinal puede producirse en cualquier punto del tracto gastrointestinal desde el esófago hasta el ano. Se presenta un caso de un hombre de 49 años que acude a consulta por molestias abdominales. Se realizan estudios que impresionan paquete ganglionar. En la videolaparoscopía se evidenció una tumoración a nivel de yeyuno que se reseca y extrae. El resultado de la biopsia informa un tumor fusocelular del estroma gastrointestinal tipo GIST de la pared del intestino delgado con diferenciación leiomatosa (leiomioma) de bajo grado, de posible comportamiento agresivo(AU)

Although they represent less than one percent of all the gastrointestinal tumors, the stromal tumors are the most common mesenchymal tumors in the digestive system. They are heterogeneous tumors that vary in size, morphology and biological behavior. Their virtual behavior ranges from benign tumors to very aggressive cancers, often metastatic. Gastrointestinal stromal tumor may appear in any point of the gastrointestinal tract from the esophagus to the anus. Here is a 49 years-old man who went to the doctor´s because of abdominal pains. The studies showed ganglionic package. Video-laparoscopy showed tumor at the jejunum that was excised and removed. The result of the biopsy revealed a fusocellular tumor of the gastrointestinal stroma of GIST type in the small intestine wall with low grade differentiation (leiomyoma) of possible aggressive behavior(AU)

Evaluation of the Feasibility and Efficacy of Forward-Viewing Endoscopic Ultrasound

BACKGROUND/AIMS: We aimed to evaluate the feasibility and efficacy of a forward-viewing linear endoscopic ultrasound (FV-EUS) in diagnostic EUS procedures compared to standard oblique-viewing EUS (OV-EUS). METHODS: This study was a prospective, randomized study that permitted crossover. Fifty-one patients with subepithelial pancreatobiliary and upper gastrointestinal lesions underwent FV-EUS and OV-EUS sequentially, in random order. The EUS visualization was performed by a novice endosonographer, and the image quality of specific lesions was scored by an expert endosonographer. If fine-needle aspiration (FNA) was indicated, it was performed using both echoendoscopes by an expert endosonographer. RESULTS: Both of the EUS procedures had similar visualization times and image quality. In general, the visualization time was inversely related to the diameter of the specific lesions. In subepithelial lesions of the stomach and duodenum, the visualization time (98.8+/-62.2 seconds vs 139.0+/-66.6 seconds, p=0.008) and image quality (4.1+/-1.3 vs 3.3+/-1.7, p=0.02) of FV-EUS were significantly superior to OV-EUS. FV-EUS-guided FNA of pancreatic masses was successful in seven patients (87.5%). CONCLUSIONS: FV-EUS may increase the ease of access to gastrointestinal subepithelial lesions compared to conventional OV-EUS. The performance of FV-EUS for evaluating pancreatobiliary diseases and performing interventions was comparable to conventional OV-EUS.

Imaging Findings of Follicular Dendritic Cell Sarcoma: Report of Four Cases

Follicular dendritic cell sarcoma is a rare malignant neoplasm and little is known about its radiological features. We present here four cases of follicular dendritic cell sarcomas and we provide the image characteristics of these tumors to help radiologists recognize this entity when making a diagnosis.

Ultrasound examination of gastrointestinal tract diseases

With recent technical advances, increasing use of sonography in the initial evaluation of patients with abdominal disease may allow the detection of unexpected tumor within the abdominal cavity. Easiness of sonographic detection of bowel pathology, purposely or unexpectedly, warrants the inclusion of bowel loops during ultrasound examination when a patient complains of symptoms indicating diseases of the bowel. In patients complaining of acute abdominal symptoms or nonspecific gastrointestinal symptoms and showing signs such as abdominal pain, diarrhea, hematochezia, change of bowel habit, or bowel obstruction, sonography may reveal the primary causes and may play a definitive role in making a diagnosis. On ultrasonography, abnormal lesions may appear as fungating mass with eccentrically located bowel lumen (pseudokidney sign) or symmetrical or asymmetrical, encircling thickening of the colonic wall (target sign). In patients with mass or wall thickening detected on ultrasonography, additional work-up such as barium study, CT or endoscopy would be occasionally necessary for making a specific diagnosis.