Secondary amyloidosis with concomitant gastric GIST and gastric adenocarcinoma - A case report

Secondary amyloidosis is a well-established entity and has been described in association with chronic inflammatory conditions such as rheumatoid arthritis, ankylosing spondylitis, bronchiectasis, tuberculosis, etc., It has also been reported in association with neoplasms such as Hodgkin's lymphoma, Waldenstrom's macroglobulinemia, renal cell carcinoma, lung carcinoma, etc. However, only a few case reports documenting the association of amyloidosis with gastrointestinal tumor (GIST) and gastric adenocarcinoma are available in the literature. Hereby, we report a case of a 74-year-old male who presented with colicky abdominal pain and vomiting. Ultrasonography revealed a common bile duct (CBD) stone and a small extra-luminal gastric mass. Endoscopic retrograde cholangiopancreatography (ERCP) was performed to remove the CBD stone which revealed an incidental finding of gastric ulcer. A biopsy was taken from the gastric ulcer which on histopathological examination was confirmed as adenocarcinoma leading onto total gastrectomy. During total gastrectomy, an inadvertent injury to the spleen led to simultaneous splenectomy. Multiple samples from the gastric ulcer, the extra-luminal gastric mass, and the spleen were subjected to histopathological examination. Gastric ulcer was confirmed as adenocarcinoma, gastric extra-luminal mass was confirmed as GIST, and splenic examination revealed widespread deposition of amyloid which on Congo-red stain imparted an apple-green birefringence on polarizing microscopy. To the best of our knowledge, this is the first-ever case of such an association where gastric adenocarcinoma occurred with concomitant gastric GIST and secondary amyloidosis of the spleen.

Endosonographic Characteristics of Subepithelial Lesions of the Upper Digestive Tract: Experience of a Referral Center in Colombia

Introduction: Subepithelial lesions (SELs), described as bulges or masses covered by healthy-looking mucosa, are usually found incidentally during endoscopic studies. They are typically asymptomatic and are estimated to be identified in 1% of esophagogastroduodenoscopies performed. Materials and methods: A descriptive study was conducted with retrospective data collection. We included all patients treated at the Unión de Cirujanos, a referral gastroenterology unit of the Coffee Region in Manizales, between January 2020 and January 2022, who underwent endoscopic ultrasonography to study subepithelial-looking lesions located in the esophagus, stomach, and duodenum. Results: 152 endoscopic ultrasounds were performed, finding 108 SELs; 66.6% of the patients were women, and the average age was 58. Most SELs were located in the stomach (78.7%), the antrum being the most frequent location. The average diameter of the gastric SELs was 14.6 mm, and 47% of the lesions depended on the fourth echolayer; the most frequent presumptive diagnoses were gastrointestinal stromal tumor (GIST; 65.8%) and lipoma (11.7%). Conclusions: SELs of the GI tract originate in the muscularis mucosae, submucosa, or muscularis propria. They are most frequently located in the stomach, and their characterization usually requires endoscopic ultrasonography and histopathology. Treatment of these lesions remains controversial due to their low frequency, histological variety, and low malignant potential.

Introducción: las lesiones subepiteliales (LSE), descritas como abultamientos o masas cubiertas por mucosa de aspecto sano, se encuentran usualmente de manera incidental durante estudios endoscópicos; suelen ser asintomáticas y se estima que se identifican en el 1% de las esofagogastroduodenoscopias realizadas. Métodos: se realizó un estudio descriptivo con recolección retrospectiva de la información. Se incluyeron todos los pacientes atendidos en Unión de Cirujanos, unidad de gastroenterología de referencia del Eje Cafetero ubicada en la ciudad de Manizales, entre enero de 2020 y enero de 2022, a quienes se les realizó ultrasonografía endoscópica como parte del estudio de lesiones de aspecto subepitelial localizadas en el esófago, estómago y duodeno. Resultados: se realizaron 152 endosonografías y se encontraron 108 lesiones subepiteliales, 66,6% de los pacientes eran mujeres y el promedio de edad fue 58 años. La mayoría de las LSE se localizaron en el estómago (78,7%) y, de estas, la localización más frecuente fue el antro; el diámetro promedio de las LSE gástricas fue de 14,6 mm y el 47% de las lesiones eran dependientes de la cuarta ecocapa; los diagnósticos presuntivos más frecuentes fueron el tumor del estroma gastrointestinal (GIST; 65,8%) y lipoma (11,7%). Conclusiones: las LSE del tracto gastrointestinal se originan en la muscular de la mucosa, submucosa o muscular propia, de manera más frecuente se localizan en el estómago y su caracterización suele requerir la realización de ultrasonografía endoscópica y estudio histopatológico. El tratamiento de estas lesiones sigue siendo controversial debido a su baja frecuencia, variedad histológica y bajo potencial maligno.

Plexiform fibromyxoma of the stomach: An underrecognized entity!

Plexiform fibromyxoma (PF) is a recently described rare type of mesenchymal tumor of the stomach with only 123 cases reported in the literature. It is characterized by a peculiar plexiform growth pattern, myxoid stroma with arborizing microvasculature, and spindle-shaped myofibroblastic cells. We herein report a case of gastric PF in a 15-year-old boy, mimicking a gastrointestinal stromal tumor (GIST) due to overlapping clinicoradiological features. Distinct pathological and immunohistochemical features of PF do aid in distinction from GIST and other mesenchymal entities. Diagnosis is crucial as surgical resection is the mainstay of treatment unlike aggressive management in GIST. It is a benign entity with no local recurrence or distant metastasis reported so far, but confirmation of the same requires longitudinal observational studies with a larger sample size.

A STUDY ON RETROSPECTIVE ANALYSIS OF GASTROINTESTINAL STROMA TUMOURS.

Introduction:.Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal (GI) tract. They are believed to originate from the interstitial cells of Cajal (ICCs) or from the precursors of ICCs. Most GISTs show an activating mutation in either the c-kit or platelet-derived growth factor receptor alpha (PDGFRA) gene. Tumor size, mitotic rate, and anatomic location correlate with potential malignancy and recurrence rate. The aim of our study is to Aim & Objectivesobserve the demographic and clinical characteristics of GIST in our clinical environment.Method- 30 patients who are diagnosed with GIST managed during the period from Jun 2017 to July 2022 were reviewed in terms of demographics, clinical presentation, location of tumor, characteristics, management, histopathology, IHC analysis, post op follow up & recurrence.The risk stratification in terms of size, mitotic index, site of tumour was observed & classified using modified NIH classification. Results- Out of 30 cases male patient's- 73% (n- 22); female patients27%(n-8). Mean age was 60 years with a range of 44-81 years. Most common clinical presentation was abdominal mass, Abdominal pain. Commonly involved sites are stomach and small bowel.4 cases who underwent multiple organ resection 2 cases developed recurrence in which 1 underwent palliative Whipple's procedure and one was medically managed. GIST Conclusion- s are rare entities with a variety of clinical features, Common sites for GIST are stomach & small intestine. Surgery is the main stay of management in GIST. Neo adjuvant therapy will help in down staging the tumour. Wedge resection & resection &anastomosis will be adequate for stomach in small bowel GIST. En-bloc resection should be considered if adjacent structures are involved. Overall GIST has favourable prognosis if diagnosed early.

Imatinib en el tratamiento de pacientes con tumor del estroma gastrointestinal / Imatinib in the Treatment of Patients With Gastrointestinal Stromal Tumor

Introducción. Los tumores del estroma gastrointestinal (GIST) son neoplasias de tejido blando (sarcomas) originados en el sistema gastrointestinal (células intersticiales de Cajal). Se presentan mayormente en el estómago y el intestino delgado. La introducción del imatinib en el tratamiento ha cambiado el pronóstico de esta enfermedad. Objetivo. Describir las características clínicas, biológicas y la respuesta al tratamiento con imatinib de pacientes bolivianos con GIST. Material y métodos. Estudio descriptivo transversal de tipo retrospectivo de pacientes con diagnóstico de GIST (n=9) remitidos entre marzo de 2012 a julio de 2022. Se recopiló y analizó datos demográficos, clínicos y laboratoriales de pacientes con estudio imnunohistoquímica positivos para GIST (CD117, CD34, mutación PDGFRA) que posterior a cirugía recibieron tratamiento con imatinib dentro del programa asistencial GIPAP. Se consideró criterios SWOG y signos de desaparición del tumor para evaluar la respuesta y remisión completa. Resultados. La media de edad de los pacientes (4 mujeres, 5 varones) fue 56 años. Los sitios primarios del GIST fueron el estómago e intestino, 56 % de pacientes presentó tumor >10 cm de diámetro, y 78 % metástasis (peritoneo e hígado). Todos los pacientes alcanzaron remisión completa tras el primer año de tratamiento. Dos pacientes presentaron recaída después de abandonar el tratamiento tras 4 y 8 años respectivamente; uno de ellos reflejó una segunda remisión tras reiniciar tratamiento. Conclusiones. Los datos epidemiológicos son similares a los reportados en otros trabajos,empero un diagnóstico en estadios avanzados y abandono del tratamiento aun tratándose de un programa de tratamiento gratuito constituyen variables diferenciales. Más allá del desconocimiento, la negligencia e irresponsabilidad de los pacientes resulta preocupante.

Introduction. Gastrointestinal stromal tumor (GIST) are mesenchymal neoplasms (sarcomas) in the gastrointestinal tract (interstitial cells of Cajal). It occurs mostly in the stomach and small intestine. The introduction of imatinib for GIST treatment has changed the prognosis of this disease. Objective. To describe the clinical and biological characteristics, and the treatment response to imatinib in Bolivian patients with GIST. Material and methods. Retrospective descriptive cross-sectional study of patients with GIST(n=9) referred between March 2012 and July2022. It was collected demographic, clinical, and laboratory data of patients with immunohistochemical study positive for GIST (CD117, CD34, PDGFRA mutation) who after surgery received treatment with imatinib within the GIPAP program. SWOG criteria and signs of tumor vanishing were considered to assess treatment response and complete remission. Results. The mean age of patients (4 women, 5 men) was 56 years. Primary sites of GIST were the stomach and intestine, 56% of patients presented tumor >10 cm in diameter, and 78% metastasis (peritoneum and liver). All patients achieved complete remission after the first year of treatment. Two patients presented relapse after discontinuing treatment, with a follow-up 4 and 8 years respectively; one of them reflected a second remission after restarting treatment. Conclusions. These epidemiological data are similar to those reported in other studies, however a late-stages diagnosis and treatment dropout, even when trying a free treatment program, constitute differential variables. Beyond misinformation, patients' neglect and irresponsibility is worrying.

Expression of DOG 1 and correlation with Ki-67 and tumor characteristics in GIST: case series analysis in a tertiary care center

Gastrointestinal stromal tumours (GISTs) are the most common non epithelial, mesenchymal tumours of the gastrointestinal tract and amount to 1 to 3% of all gastrointestinal tumours. Histologically, GISTs demonstrate considerable morphologic variation.The aim of the study was to evaluate the histo-morphological features of GIST and the expression of DOG1 and KI-67 in these tumours. Eleven cases of GISTs received during a five-year period at a tertiary care centre were analysed for their demographic parameters, morphology and risk stratification. Immunohistochemistry for DOG1 and Ki67 was performed for all the eleven cases.Inthis study there was a female preponderance with the mid -fifties being the median age of presentation. The stomach and small intestine were the common sites of involvement. The histologic type was predominantly spindle cell with a few cases of mixed tumours. DOG 1 was positive in all the tumours and Ki-67 index was markedly elevated in the epithelioid cell type and in the high-risk category of tumours.DOG 1 holds good as an important marker for clinically suspected GIST diagnosis and Ki-67 expression correlates with the risk stratification of the tumour and can be a good prognostic factor

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.

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.

Tumores del estroma gastrointestinal en un Hospital de México / Gastrointestinal stroma tumor in a hospital of Mexico

Introducción: Los tumores del estroma gastrointestinal son neoplasias de comportamiento benigno o maligno. Se originan de las células intersticiales de Cajal del tubo digestivo. Objetivo: Describir dos formas distintas de presentación clínica de los tumores del estroma gastrointestinal. Casos clínicos: El caso 1, paciente femenina de 65 años de edad que acudió por síntomas compresivos del tubo digestivo superior a causa de un gastrointestinal gástrico. El caso 2, paciente masculino de 56 años de edad que acudió por sangrado de tubo digestivo medio ocasionado por un gastrointestinal intestinal. Conclusiones: Los tumores del estroma gastrointestinal tienen distinta presentación clínica. Su tratamiento es esencialmente quirúrgico y en algunos casos complementados con terapia molecular dirigida(AU)

Introduction: Gastrointestinal stromal tumors are neoplasms of benign or malignant behavior. They originate from the interstitial cells of Cajal in the digestive tract. Objective: The objective of this work is to describe two different forms of clinical presentation. Case report: case 1: 65-year-old female patient who presented for compression symptoms of the upper digestive tract due to gastric GIST; case 2: 56-year-old male who presented with bleeding from the middle digestive tract caused by intestinal GIST. Conclusions: GISTs have different clinical presentation. Its treatment is essentially surgical and in some cases supplemented with targeted molecular therapy(AU)

Gist gigante de alto riesgo: Reporte de caso y revisión de la literatura / Giant GIST of High-risk Criteria: Case Report and Literature Review

RESUMEN Los tumores del estroma gastrointestinal (GIST) son las neoplasias mesenquimales más frecuentes del tracto digestivo. Los criterios de estadificación del riesgo, como angioinvasion, tamaño, infiltración y el índice mitótico, permiten realizar un adecuado diagnóstico y tratamiento. Se presenta un paciente masculino de 67 años de edad, quien consultó por he-matemesis y melenas. Endoscópicamente se observó una masa en el estómago de 20x10x6 cm de diámetro de la cual se tomó biopsia para estudio. Al examen histopatológico se diagnósticó un GIST con invasión microscópica de la lámina propia y angioinvasión, estos dos componentes histopatológicos son escasamente tomados en cuenta para clasificar GIST; sin embargo, son muy importantes en este contexto, pues cambian el pronóstico de la enfermedad y con requerimiento de terapia adyuvante con imatinib. El desenlace del paciente fue favorable, debido a la conducta terapéutica establecida. El comportamiento biológico del GIST varía dependiendo de las características clínicas e histopatológicas. Este caso resalta los criterios de alto riesgo del GIST y la necesidad de modificar el tratamiento cuando están presentes.

ABSTRACT Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms of the digestive tract. Risk staging criteria such as angioinvasion, size, infiltration, and mitotic index allow for adequate diagnosis and treatment. A 67-year-old male patient is presented, who consulted for hematemesis and melena. Endoscopically, a 20x10x6 cm diameter mass was observed in the stomach, which was taken for a biopsy for study. On histopathological examination, a GIST with the microscopic invasion of the lamina propia and angioinvasion was diagnosed. These two histopathological components are scarcely taken into account to classify GIST; however, they are very important in this context, changing the prognosis of the disease and requiring adjuvant therapy with imatinib. The outcome of the patient was favorable due to the established therapeutic conduct. The biological behavior of GIST varies depending on the clinical and histopathological characteristics. This case highlights the high-risk criteria for GIST and the need to modify the treatment when present.

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.

Expression of miR-17-5p in gastrointestinal stromal tumor tissues and its effect on proliferation and apoptosis of GIST882 cells / 中国肿瘤生物治疗杂志

@#[摘 要] 目的：探讨miR-17-5p在胃肠道间质瘤（gastrointestinal stromal tumor，GIST）组织中的表达及其对GIST882细胞增殖与凋亡的影响。方法：选取2019年5月至2020年5月广西医科大学第四附属医院胃肠外科手术切除的20例GIST患者的瘤组织及相应的瘤旁组织标本，以及GIST882细胞和人正常肠道上皮细胞HIEC为研究对象。荧光PCR-毛细管电泳测序法检测GIST标本中KIT基因突变情况。分别将miR-17-5p mimic和pc-KIT转染至GIST882细胞中。双荧光素酶报告基因实验验证miR-17-5p与KIT的靶向关系。qPCR和WB法检测GIST组织和细胞中miR-17-5p、KIT mRNA及蛋白的表达，CCK-8法、流式细胞术检测GIST882细胞的增殖、凋亡及细胞周期进程。结果：20例GIST组织中有15例患者发生KIT基因突变。与瘤旁组织比较，GIST组织中miR-17-5p表达水平显著降低、KIT mRNA表达水平显著升高（均P<0.01）；与HIEC细胞比较，GIST882细胞中miR-17-5p表达显著降低、KIT mRNA和蛋白表达显著升高（均P<0.01）。过表达miR-17-5p可显著降低GIST882细胞的增殖能力（P<0.01）、提高细胞凋亡率（P<0.05）、sub-G1期和S期细胞比例显著增加（均P<0.05）、而G0/G1期的细胞比例显著减少（P<0.05），同时KIT蛋白表达水平明显降低（P<0.01）。双荧光素酶报告基因实验证实KIT是miR-17-5p的下游靶基因。同时过表达miR-17-5p和KIT对GIST882细胞的增殖、细胞周期进程和凋亡水平未产生明显影响。结论：过表达miR-17-5p可显著抑制GIST882细胞的增殖并诱导细胞凋亡，同时下调KIT蛋白的表达，miR-17-5p可能是治疗GIST的潜在靶标。

Neoplasia fusocelular - tumor de gist: presentación de un caso / Fusocellular neoplasia - gist tumor: presentation of a case

Los tumores del estroma gastrointestinal (TEGI) son las neoplasias mesenquimales más frecuentes del tracto digestivo con una frecuencia de 0,1 a 3 % de todas las neoplasias gastrointestinales. Son derivadas de las células intersticiales de Cajal, localizadas a lo largo del plexo mioentérico de la pared intestinal. Comprenden leiomisarcomas, leiomioblastomas, leimiomas, schwannomas. Están formadas por células fusiformes, en la mayoría, epitelioides o ambas. Se localizan predominantemente en estómago e intestino delgado. Inmunohistoquimicamente se detecta expresión de receptores KIT (antígeno CD117) que puede ser focal, variable o difusa. Involucran tumores benignos pero con potencial malignidad hasta sarcomas metastizantes. Su pronóstico se basa el tamaño y porcentaje de mitosis. La sintomatología depende del lugar de origen, en este caso como masa palpable abdominal y obstrucción intestinal. El tratamiento es la resección completa con márgenes limpios. En caso de metástasis preoperatoria, esta no cambia la conducta quirúrgica, debido a la posibilidad de obstrucción y sangrado. El Imatinib a dosis de 400 mg controla el crecimiento eventual de enfermedad residual. Se presenta el caso clínico de paciente con masa abdominal y cuadro de obstrucción intestinal que evoluciona a la perforación de un TEGI localizado en yeyuno proximal con cuadro peritoneal y absceso subfrenico. Se procede a resección intestinal con yeyuno yeyuno anastomosis resección completa. La histopatología reporta Tumor estronal gastrointestinal y la inmunohistoquimica Neoplasia Fusocelular. CONCLUSION: Los TEGI son de origen mesenquimal, comprenden espectro grande de tumores desde benignos, hasta carcomas altamente malignos. Los factores pronósticos se asocian al tamaño e índice mitótico del tumor. La inmunohistoquimica reporta su expresión para CD117. La resección quirúrgica completa es el pilar de tratamiento y en casos de resección incompleta o irresecabilidad puede usarse imatinib.

Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal neoplasms of the digestive tract with a frequency of 0.1 to 3% of all gastrointestinal neoplasms. They are derived from the interstitial cells of Cajal, located along the myoenteric plexus of the intestinal wall. They include leiomysarcomas, leiomioblastomas, leimiomas, schwannomas. They are made up of spindle cells, in the majority, epithelioids or both. They are located predominantly in the stomach and small intestine. Immunohistochemically, KIT receptor expression (CD117 antigen) is detected, and they can be focal, variable or diffuse. They involve benign but potentially malignancy tumors up to metastatic sarcomas. Their prognosis is based on the size and percentage of mitosis. The symptoms depend on the place of its origin. Treatment is complete resection with clean margins. In the case of preoperative metastases, this does not change the surgical approach, due to the possibility of obstruction and bleeding. Imatinib at a dose of 400 mg controls the eventual growth of residual disease. We present the clinical case of a patient with an abdominal mass and a small bowel obstruction that progresses to perforation of a GIST located in the proximal jejunum with a peritonitis and subphrenic abscess. Intestinal resection is performed with jejunum jejunoanastomosis and complete resection. Histopathology reports gastrointestinal stromal tumor and immunohistochemistry, Fusocellular neoplasia. Conclusion: GIST are of mesenchymal origin, they include a wide spectrum of tumors from benign to highly malignant sarcomas. Prognostic factors are associated with tumor size and mitotic index. Immunohistochemistry reports its expression for CD117. Complete surgical resection is the mainstay of treatment and in cases of incomplete resection or unresectability imatinib can be used.

Acute intestinal obstruction due to gastrointestinal stromal tumours: case report

Gastrointestinal stromal tumours (GIST) as such is a rare disease, but according to some study it may end up to malignant type in approximately 10-30%. Herein we present a 2 cases of GIST who presented with acute intestinal obstruction in emergency department. In imaging studies (X-ray erect abdomen, ultrasonography abdomen), it showed a features of intestinal obstruction but could not rule out the exact mechanism or pathology behind the obstruction. As commonly adhesions is a main culprit behind the cause of acute intestinal obstruction in case of any post-operative patient. So, we try to highlight that in case of any old aged individual and in virgin abdomen GIST should be keep in mind as a cause of intestinal obstruction.

Jejunal gastrointestinal stromal tumors masquerading as an appendicular mass: an unusual presentation

Gastrointestinal stromal tumors (GISTs) are a rare variety of tumors of mesenchymal origin found in the gastrointestinal (GI) tract forming about 1% of all GI tumors. These originate from the interstitial cells of Cajal. Small bowel GISTs have been shown to present as obscure GI bleeding, obstruction and perforation in literature. We report a 57 years old female patient presenting with pain abdomen, fever and vomiting and palpable right iliac fossa (RIF) mass diagnosed as an appendicular mass and managed conservatively. She was planned interval appendicectomy and was discovered to have a jejunal GIST at laparotomy treated with resection and anastomosis. There are case reports of small bowel GISTs presenting as sources of obscure or overt GI bleeding and luminal or extra luminal mass causing small bowel obstruction. Surgery is mainstay of treatment with imatinib for adjuvant or neoadjuvant therapy. This case highlights an unusual presentation of a jejunal GIST with a sealed off perforation mimicking an appendicular mass in the RIF treated by surgical resection followed by adjuvant Imatinib therapy. GIST being an uncommon tumor with varied presentations can lead to misdiagnosis and delays in treatment. This differential should be kept in mind while evaluating small bowel pathologies to aid a timely diagnosis.

Gastric Schwannoma mimicking gastrointestinal stromal tumor: a rare case with review of literature

Gastric schwannoma (GS) is a rare neoplasm of the stomach. It accounts for 0.2% of all gastric tumors and is mostly benign, slow-growing, and asymptomatic. Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors and up to 60-70% of GIST occur in the stomach. Schwannoma and GIST have similar radiological and endoscopic features making it extremely difficult to differentiate them preoperatively. Differential diagnosis of these two submucosal tumors is important because of the malignant potential of GIST and the relatively benign course of gastric schwannomas. This case stresses on the importance of including gastric schwannomas in the differential diagnosis of a submucosal gastric mass as it has the ability to mimic a gastrointestinal stromal tumor, which is a leading differential diagnosis because of its common occurrence at this site.

Tumor de estroma gastrointestinal gigante de estómago / A Gigantic Gastrointestinal Stroma Tumor of the Stomach

RESUMEN Los tumores del estroma gastrointestinal son los tumores mesenquimales más frecuentes en el tracto gastrointestinal, entre el 20 y el 45 por ciento son malignos. Se originan de las células de Cajal o de sus precursores. La clínica más frecuente es la presencia de un tumor abdominal, la hemorragia digestiva por ulceración de la mucosa y el dolor o sensación de plenitud abdominal. Estos tumores pueden tener un largo período de crecimiento silente hasta que por su tamaño se manifiestan clínicamente, suelen tener un crecimiento expansivo desplazando las estructuras vecinas sin invadirlas. Se presenta a un paciente con un tumor del estroma gastrointestinal de estómago con proporciones inusualmente grandes, que fuera intervenido por nuestro grupo con una evolución satisfactoria(AU)

ABSTRACT Gastrointestinal stromal tumors are the most frequent mesenchymal tumors of the gastrointestinal tract, and are malignant in 20-45 percent. They originate from Cajal cells or their precursors. The most frequent clinical symptoms are the presence of an abdominal tumor, digestive hemorrhage due to mucosa ulceration, and pain or sensation of abdominal fullness. These tumors may have a long period of silent growth until, due to their size, they manifest clinically; they tend to have expansive growth, displacing neighboring structures without invading them. We present the case of a patient with a gastrointestinal stroma tumor of the stomach of unusually large proportions, who underwent surgery by our team and with a satisfactory evolution(AU)

Gastrointestinal Stromal Tumor (GIST)-Clinical Profile & Management of Patients Admitted To a Tertiary Care Hospital in Odisha

Gastrointestinal stromal tumor (GIST) is the commonest mesenchymal tumor of gastrointestinal tract. Gastrointestinal bleeding, obstruction, pain and abdominal lump are the common clinical manifestations. Local or segmental resection provides satisfactory results. Aim: Our aim was to report our experience of gastrointestinal stromal tumors (GISTs) during the last 2 years. Methods: Between January 2017 and June 2019, we performed surgery for 12 cases of GIST. Metastases, recurrence and survival data were collected in relation to age, history, clinical presentation, location, size, resection margins and cellular features. Results: Resection was completed in 11 cases. In one case definitive surgery was abandoned due to local invasion and metastasis. Three patients with high risk GIST were treated with imatinib mesylate. Conclusion: Non-radical surgery in the form of local or segmental resection is the standard surgical approach for GIST management. Pathological and biological features of the neoplasm represent the most important factors predicting the prognosis.

Aparición simultánea de cáncer gástrico temprano y GIST / Simultaneous appearance of early gastric cancer and GIST

Resumen Se presenta el caso clínico de un paciente masculino de 74 años quien ingresó con síntomas de sangrado digestivo alto, se realizó una endoscopia de vías digestivas altas y se encontraron dos lesiones en el estómago: una elevada de centro ulcerado y otra subepitelial, lo que llevó a completar los estudios con una ecoendoscopia gástrica que mostró una lesión mucosa que infiltraba la submucosa sugestiva de cáncer gástrico temprano y otra lesión subepitelial dependiente de la muscular, sugestivas de un tumor gastrointestinal estromal (GIST); los estudios de estatificación no evidenciaron compromiso metastásico, por lo que se llevó al manejo quirúrgico con la posterior confirmación histológica de los hallazgos.

Abstract We present the case of a 74-year-old male patient who was admitted with symptoms of upper digestive bleeding. Endoscopy of his upper digestive tract found an ulcerated lesion and a subepithelial lesion in his stomach. Complete studies including gastric endoscopic ultrasound showed a mucosal lesion infiltrating the submucosa which was suggestive of early gastric cancer as well as a subepithelial lesion on the muscle that was suggestive of a gastrointestinal stromal tumor (GIST). Staging showed no metastatic compromise, so surgery was performed, and histology subsequently confirmed the findings.