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.

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.

Performance of the Combined Model Based on Both Clinicopathological and CT Texture Features in Predicting Liver Metastasis of High-risk Gastrointestinal Stromal Tumors / 中国医学科学院学报

Objective To investigate the performance of the combined model based on both clinicopathological features and CT texture features in predicting liver metastasis of high-risk gastrointestinal stromal tumors(GISTs). Methods The high-risk GISTs confirmed by pathology from January 2015 to December 2020 were analyzed retrospectively,including 153 cases from the Cancer Hospital of the University of Chinese Academy of Sciences and 51 cases from the Shaoxing Central Hospital.The cases were randomly assigned into a training set(n=142)and a test set(n=62)at a ratio of 7∶3.According to the results of operation or puncture,they were classified into a liver metastasis group(76 cases)and a non-metastasis group(128 cases).ITK-SNAP was employed to delineate the volume of interest of the stromal tumors.Least absolute shrinkage and selection operator(LASSO)was employed to screen out the effective features.Multivariate logistic regression was adopted to construct the models based on clinicopathological features,texture features extracted from CT scans,and the both(combined model),respectively.Receiver operating characteristic(ROC)curve and calibration curve were established to evaluate the predictive performance of the models.The area under the curve(AUC)was compared by Delong test. Results Body mass index(BMI),tumor size,Ki-67,tumor occurrence site,abdominal mass,gastrointestinal bleeding,and CA125 level showed statistical differences between groups(all P<0.05).A total of 107 texture features were extracted from CT images,from which 13 and 7 texture features were selected by LASSO from CT plain scans and CT enhanced scans,respectively.The AUC of the prediction with the training set and the test set respectively was 0.870 and 0.855 for the model based on clinicopathological features,0.918 and 0.836 for the model based on texture features extracted from CT plain scans,0.920 and 0.846 for the model based on texture features extracted from CT enhanced scans,and 0.930 and 0.889 for the combined model based on both clinicopathological features and texture features extracted from CT plain scans.Delong test demonstrated no significant difference in AUC between the models based on the texture features extracted from CT plain scans and CT enhanced scans(P=0.762),whereas the AUC of the combined model was significantly different from that of the clinicopathological feature-based model and texture feature-based model(P=0.001 and P=0.023,respectively). Conclusion Texture features extracted from CT plain scans can predict the liver metastasis of high-risk GISTs,and the model established with clinicopathological features combined with CT texture features has best prediction performance.

Clinical significance of the deep learning algorithm based on contrast-enhanced CT in the differential diagnosis of gastric gastrointestinal stromal tumors with a diameter ≤ 5 cm / 中华胃肠外科杂志

Objective: Contrast-enhanced CT is an important method of preoperative diagnosis and evaluation for the malignant potential of gastric submucosal tumor (SMT). It has a high diagnostic accuracy rate in differentiating gastric gastrointestinal stromal tumor (GIST) with a diameter greater than 5 cm from gastric benign SMT. This study aimed to use deep learning algorithms to establish a diagnosis model (GISTNet) based on contrast-enhanced CT and evaluate its diagnostic value in distinguishing gastric GIST with a diameter ≤ 5 cm and other gastric SMT before surgery. Methods: A diagnostic test study was carried out. Clinicopathological data of 181 patients undergoing resection with postoperative pathological diagnosis of gastric SMT with a diameter ≤ 5 cm at Department of Gastrointestinal Surgery of Renji Hospital from September 2016 to April 2021 were retrospectively collected. After excluding 13 patients without preoperative CT or with poor CT imaging quality, a total of 168 patients were enrolled in this study, of whom, 107 were GIST while 61 were benign SMT (non-GIST), including 27 leiomyomas, 24 schwannomas, 6 heterotopic pancreas and 4 lipomas. Inclusion criteria were as follows: (1) gastric SMT was diagnosed by contrast-enhanced CT before surgery; (2) preoperative gastroscopic examination and biopsy showed no abnormal cells; (3) complete clinical and pathological data. Exclusion criteria were as follows: (1) patients received anti-tumor therapy before surgery; (2) without preoperative CT or with poor CT imaging quality due to any reason; (3) except GIST, other gastric malignant tumors were pathologically diagnosed after surgery. Based on the hold-out method, 148 patients were randomly selected as the training set and 20 patients as the test set of the GISTNet diagnosis model. After the GISTNet model was established, 5 indicators were used for evaluation in the test set, including sensitivity, specificity, positive predictive value, negative predictive value and the area under the receiver operating curve (AUC). Then GISTNet diagnosis model was compared with the GIST-risk scoring model based on traditional CT features. Besides, in order to compare the accuracy of the GISTNet diagnosis model and the imaging doctors in the diagnosis of gastric SMT imaging, 3 radiologists with 3, 9 and 19 years of work experience, respectively, blinded to clinical and pathological information, tested and judged the samples. The accuracy rate between the three doctors and the GISTNet model was compared. Results: The GISTNet model yielded an AUC of 0.900 (95% CI: 0.827-0.973) in the test set. When the threshold value was 0.345, the sensitivity specificity, positive and negative predictive values of the GISTNet diagnosis model was 100%, 67%, 75% and 100%, respectively. The accuracy rate of the GISTNet diagnosis model was better than that of the GIST-risk model and the manual readings from two radiologists with 3 years and 9 years of work experience (83% vs. 75%, 60%, 65%), and was close to the manual reading of the radiologist with 19 years of work experience (83% vs. 80%). Conclusion: The deep learning algorithm based on contrast-enhanced CT has favorable and reliable diagnostic accuracy in distinguishing gastric GIST with a diameter ≤ 5 cm and other gastric SMT before operation.

Jejunal stromal tumor and neurofibromatosis / Tumor estromal de jejuno e neurofibromatose

Abstract Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal. They present slow growth and symptoms such as bleeding, abdominal pain or discomfort, and the presence of an abdominal mass. The most affected organs are the stomach and small intestine. Differential diagnoses for gastrointestinal stromal tumor include adenocarcinoma and small intestine lymphoma, metastasis, and carcinoid tumor. Gastrointestinal stromal tumors have been associated with familial syndromes such as type 1 neurofibromatosis, considered a predisposing factor for tumors in the small intestine. This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinations of the abdomen alone. Thus, the small intestine gastrointestinal stromal tumor may be erroneously diagnosed as pancreatic, gynecological, or mesenteric tumors. The literature does not present many reports on the association of jejunal gastrointestinal stromal tumor with neurofibromatosis. Understanding the tumoral behavior of small intestine gastrointestinal stromal tumor in this subgroup of patients would allow better follow-up.

Resumo Os tumores estromais gastrointestinais, embora raros, são as neoplasias mesenquimais primárias mais comuns do trato gastrointestinal e originam-se das células intersticiais de Cajal. Apresentam crescimento lento e manifestam sintomas como sangramento, dor ou desconforto abdominal e presença de massa abdominal. Os órgãos mais acometidos são estômago e intestino delgado. Os diagnósticos diferenciais para tumores estromais gastrointestinais incluem adenocarcinoma e linfoma de intestino delgado, metástases e tumor carcinoide. Os tumores estromais gastrointestinais têm sido associados a síndromes familiares como a neurofibromatose tipo 1, considerada um fator predisponente para tumores no intestino delgado. O objetivo desse trabalho é relatar um caso de tumor estromal gastrointestinal em região jejunal em paciente portadora de neurofibromatose tipo 1, com 2 anos de seguimento, submetida a enterectomia segmentar laparoscópica e diagnóstico determinados pela histopatologia e imuno-histoquímica. O diagnóstico de tumor estromal gastrointestinal do intestino delgado é desafiador, devido a sua baixa incidência, sintomas inespecíficos, relativa inacessibilidade do intestino delgado ao exame endoscópico convencional, amplo espectro de aparências radiológicas e difícil determinação da natureza da massa apenas com exames de imagens do abdome. Assim, tumor estromal gastrointestinal no intestino delgado podem ser erroneamente diagnosticados como tumores pancreáticos, tumores ginecológicos, ou tumores do mesentério. A descrição científica da associação de tumor estromal gastrointestinal de jejuno com neurofibromatose é incomum. Tais descrições permitem melhor seguimento dos pacientes a partir do momento que se entende o comportamento tumoral do tumor estromal gastrointestinal de intestino delgado nesse subgrupo de pacientes.

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)

Endoscopic full-thickness resection for gastric gastrointestinal stromal tumor originating from the muscularis propria

SUMMARY OBJECTIVE: This study retrospectively reviewed 46 cases of gastric gastrointestinal stromal tumors treated by endoluminal endoscopic full-thickness resection (EFR) microsurgery in our gastrointestinal endoscopy center. We aimed to evaluate the EFR for the treatment of gastric gastrointestinal stromal tumors originating from the muscularis propria. METHODS: A total of 46 patients with gastric gastrointestinal stromal tumors originated from the muscularis propria layer from January 2012 to June 2015 were treated with EFR. The patients were followed up with gastroscope and computed tomography (CT) for evaluation of therapeutic effect and safety. RESULTS: EFR was successfully accomplished to remove all tumors in 46 patients. The mean procedure time was 82.5±39.8min (56-188min). Except in 3 leiomyomas, pathological examination confirmed gastrointestinal stromal tumor (GIST) in 43 cases. None of the patients had occurred bleeding, peritonitis and other complications after EFR. Thereafter, all patients were followed up with gastro-scope after 1, 6,12 months. CONCLUSIONS: EFR is effective and safe for patients with gastric gastrointestinal stromal tumors originated from muscularis propria layer and has the advantage of less invasive treatment and higher tumor resection rate. It should be considered for further application.

RESUMO OBJETIVO: Este estudo revisou retrospectivamente 46 casos de tumores gástricos estromáticos gastrointestinais tratados por microcirurgia endoluminal endoscópica de ressecção completa (EFR) em nosso centro de endoscopia gastrointestinal. Pretendemos avaliar a EFR para o tratamento de tumores gastrointestinais estromáticos originários da muscularis própria. MÉTODOS: Um total de 46 pacientes com tumores gástricos estromáticos gastrointestinais originários da camada muscular própria, de janeiro de 2012 a junho de 2015, foi tratado com EFR. Os pacientes foram acompanhados com gastroscópio e tomografia computadorizada (TC) para avaliação de efeitos terapêuticos e segurança. RESULTADOS: A EFR foi realizada com sucesso para remover todos os tumores em 46 pacientes. O tempo médio de procedimento foi de 82,5±39,8 min (56-188 min). Exceto em três leiomiomas, exame patológico confirmou tumor estromal gastrointestinal (Gist) em 43 casos. Em nenhum paciente ocorreu sangramento, peritonite e outras complicações após EFR. Posteriormente, todos os pacientes foram acompanhados com gastroscópio após um, seis e 12 meses. CONCLUSÕES: A EFR é eficaz e segura para pacientes com tumores gastrointestinais originários da camada muscular própria e tem a vantagem de ser um tratamento menos invasivo e com maior taxa de ressecção tumoral. Deve ser considerada para posterior aplicação.

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

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

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

Tumores gastrintestinais derivados do estroma: relato de caso / Gastrointestinal stromal tumors: case report

Os autores relatam o caso raro de um GIST (Tumor Estromal Gastrointestinal) múltiplo em um paciente de 16 anos. O paciente apresentou-se com quadro de hemorragia digestiva (melena). A investigação com endoscopia digestiva alta, tomografia computadorizada e ultrssom endoscópico sugeriu tumor estromal gástrico. A laparotomia apoiou a suspeita e evidenciou outras lesões em intestino delgado. O anatomopatológico confirmou o GIST nas peças com expressão positiva para CD117 (c-Kit) e CD34. O caso chama atenção porque além do GIST ser um tumor raro, correspondente a menos de 1% das neoplasias digestivas, ele aparece na maioria das vezes como tumor único e em pacientes com média de idade de 60 anos.

This work aims to report a rare case of multiple GIST (gastrointestinal stromal tumor) in a 16-year-old patient. The patient had a gastrointestinal hemorrhage (melena). The investigation made through upper gastrointestinal endoscopy, computerized tomography and endoscopic ultrasound scan suggested a gastrointestinal stromal tumor. The laparotomy confirmed the suspicion about GIST, and other lesions were found in the small intestine. The anatomophathological analysis confirmed the GIST diagnosis in the pieces with positive results for CD117 (C-kit) and CD34. The case attracts attention for presenting a rare tumor correspondent to less than 1% of digestive neoplasia; moreover, the tumor is commonly found as unique occurring in 60-years old patients on average.

Diagnóstico de tumor estromal gastrointestinal – GIST através de enteroscopia com duplo-balão: relato de caso / Diagnosis of gastrointestinal stromal tumor – GIST by double ballon enteroscopy: case report

O diagnóstico de tumores estromais gastrointestinais (GIST) de jejuno é raro, pois eles são, na maioria das vezes, localizados no estômago. Podem cursar de forma assintomática, ser encontrados acidentalmente (massa abdominal durante investigação com tomografia computadorizada) ou como etiologia de sangramento digestivo obscuro. O diagnóstico e tratamento de doenças localizadas no intestino delgado é um desafio à prática médica. Atualmente dispomos de um novo instrumento desenvolvido para este fim, o enteroscópio de duplo-balão (EDB), que está disponível no nosso meio. A indicação mais freqüente deste exame é na investigação de sangramento obscuro, cujos diagnóstico e tratamento podem ser realizados em várias ocasiões. Este artigo relata um caso de sangramento digestivo obscuro cuja etiologia foi GIST de jejuno, diagnosticado por enteroscopia utilizando o EDB

Gastrointestinal stromal tumors (GIST) of small bowel are infrequent and diagnosis could be troublesome. The majority of these uncommon tumors are located in stomach. GIST might be asymptomatic but usually present with non-specific gastrointestinal symptoms such as abdominal mass, pain, bleeding, anorexia and bowel obstruction. Double Balloon Enteroscopy is an endoscopic technique for visualization of the small bowel. It allows for visualization of the entire small bowel, for the application of therapeutics, for the sampling or biopsying of small bowel mucosa and for the resection of polyps of the small bowel. This article relates a GIST case of jejunum in which the Double Balloon Enteroscopy is the technique used to diagnose this disease by investigation of obscure gastrointestinal bleeding