Gist sincrónico con adenomioma gástrico: Reporte de caso y revisión de la literatura / Synchronous gist with gastric adenomyoma: Case report and literature review

Introducción: La colisión de dos tumores de diferente estirpe celular en un mismo órgano es infrecuente; a pesar de las asociaciones descritas en la literatura, el hallazgo de GIST con adenomioma en sincronismo, llama aún más la atención debido a sus distintos orígenes celulares. Reporte de caso: Presentamos el caso de una paciente mujer de 57 años de edad, quien es sometida a cirugía de resección doble en cuña, y distintos exámenes incluido el anátomo-patológico. Conclusión: Se demuestra la presencia de tumores sincrónicos, GIST gástrico y adenomioma gástrico, a pesar de la infrecuencia de este hallazgo.

Background:The collision of two tumors of different cell lines in the same organ is infrequent; even though, the associations described in the literature, the finding of synchronous GISTwith adenomyoma draws even more attention due to its different cellular origins. We present the case of a 57-year-Case report:old female patient who underwent double wedge resection surgery and various examinations, including pathology. Conclusion:The presence of synchronous tumors, gastric GIST and gastric adenomyoma is demonstrated,despite the infrequency of this finding.

Prognostic factors and management of colorectal gastrointestinal stromal tumors

Introduction: The gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract. Even though it can be found in any location of the digestive tract, the colorectal GIST is rare. With this study, we aim to review the current knowledge regarding the prognosis and management of colorectal GIST. Methods: A literature search was conducted in PubMed, and 717 articles were collected. After analyzing these studies, 60 articles were selected to use in this review. Results: The mitotic index, as well as tumor size and location were identified as good discriminators of prognosis in various studies. Surgery remains the only curative therapy for potentially resectable tumors. However, even after surgical resection, some patients develop disease recurrence and metastasis, especially those with highrisk tumors. Therefore, surgical resection alone might be inadequate for the management of all colorectal GISTs. The discovery of GIST's molecular pathway led to a shift in its therapy, insofar as tyrosine kinase inhibitors became part of the treatment schemes for this tumor, revolutionizing the treatment's outcome and prognosis. Discussion/Conclusion: The controversy concerning colorectal GIST prognosis and treatment can be, in part, attributed to the limited number of studies in the literature. In this review, we gathered the most recent knowledge about the prognosis and management of GIST in this rare location and propose two algorithms for its approach. Lastly, we highlight the importance of an individualized approach in the setting of a multidisciplinary team. (AU)

Analysis of clinicopathological features, gene mutation characteristics and prognosis of 228 cases of primary gastrointestinal stromal tumor of small intestine / 中华消化杂志

Objective:To analyze the clinicopathological features, gene mutation characteristics, and prognostic related factors of patients with primary gastrointestinal stromal tumor (GIST) of small intestine.Methods:From January 1, 2011 to December 30, 2019, surgical resected and pathological diagnosed small intestinal GIST without preoperative adjuvant therapy, at Tianjin Medical University Cancer Institute & Hospital were retrospectively collected. The mutational status of KIT exons 9, 11, 13, and 17 and platelet-derived growth factor receptor alpha ( PDGFRA) exons 12 and 18 were detected by polymerase chain reaction and Sanger direct sequencing. Clinicopathological features and gene mutation characteristics were analyzed. Pearson chi-square test and Bonferroni continuous correction test were used to compare the categorical variables among groups. Kaplan-Meier method and log-rank test were used for univariate survival analysis. The multivariate Cox proportional hazards regression model was used for multivariate survival analysis. Results:The proportions of patients with maximum tumor diameter> 10.0 cm and high-risk GIST located in the jejunum and ileum were higher than those of patients with primary GIST located in the duodenum (18.7%, 28/150 vs. 6.4%, 5/78; 56.7%, 85/150 vs. 43.6%, 34/78), and the differences were statistically significant ( χ2=14.67 and 12.46, P=0.002 and 0.006). The results of gene detection of 58 cases of small intestinal GIST indicated that the percentage of KIT gene mutant and wild type accounted for 84.5% (49/58) and 15.5% (9/58), among which 34 cases (69.4%), 12 cases (24.5%), 2 cases (4.1%) and 1 case (2.0%) were KIT gene exons 11, 9, 13 and 17 mutations, respectively, and none of the case with PDGFRA mutation. The 3-, 5-, and 10-year progression-free survival rates of the patients with small intestinal GIST were 88.1%, 85.0%, and 68.3%, respectively, and the 3-, 5-, and 10-year overall survival rates were 96.6%, 94.5%, and 86.1%, respectively. The results of univariate survival analysis showed that the progression-free survival rate and overall survival rate of patients with very low-risk and low-risk GIST were higher than those of patients with intermediate-risk and high-risk GIST (100.0%, 49/49 vs. 72.3%, 81/112; 100.0%, 49/49 vs. 89.3%, 100/112, respectively), and the differences were statistically significant ( χ2=14.07 and 4.92, P<0.001、=0.027). The results of univariate survival analysis of patients with intermediate-risk and high-risk GIST showed that the epithelioid cell type, mitotic index >5/5 mm 2, Ki-67 proliferation index >5%, and without postoperative adjuvant therapy were all related with progression-free survival time, and the differences were statistically significant ( χ2=8.39, 5.53, 13.73 and 15.44, P=0.004、0.019、<0.001、<0.001). Without postoperative adjuvant therapy was related with poor overall survival time ( χ2=7.06, P=0.008). The results of univariate analysis in patients with intermediate-risk and high-risk GIST and without postoperative adjuvant therapy showed that the epithelioid cell type, high-risk, mitotic index >5/5 mm 2 and Ki-67 proliferation index >10% were all related with progression-free survival time, and the differences were statistically significant ( χ2=10.08, 6.51, 10.37 and 15.72, P=0.001、0.011、0.001、<0.001). The results of multivariate analysis indicated that Ki-67 proliferation index >5% ( HR=5.018, 95% confidence interval(95% CI) 1.745 to 14.430, P=0.003) and without postoperative adjuvant treatment ( HR=0.145, 95% CI 0.051 to 0.414, P<0.001) were independent risk factors of postoperative tumor progression in patients with small intestinal intermediate-risk and high-risk GIST. Ki-67 proliferation index>10% ( HR=8.381, 95% CI 1.364 to 51.487, P=0.022) was an independent risk factor of postoperative tumor progression in patients with small intestinal intermediate-risk and high-risk GIST and without postoperative adjuvant treatment. Conclusions:The most common mutation in small intestinal primary GIST is KIT mutation, followed by wild type, no case of PDGFRA gene mutation has been found. High Ki-67 proliferation index can predict poor prognosis of patients with moderate-risk and high-risk small intestinal primary GIST. Postoperative adjuvant therapy can significantly improve the prognosis of patients with small intestinal intermediate-risk and high-risk primary GIST.

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.

Calcifying fibrous tumor

ABSTRACT Calcifying fibrous tumor is a rare benign mesenchymal neoplasm. The etiology and pathogenesis of this tumor are uncertain. It has wide anatomical distribution. The tumor is most commonly found in the soft tissues of the extremities in younger individuals. However, in middle-aged patients, it tends to affect the visceral locations more commonly. In visceral location, it can mimic aggressive lesions clinically. The purpose of this report is to describe a case of calcifying fibrous tumor in a 71-year-old female with a history of breast carcinoma who was found to have an incidental small bowel mass on her follow-up. Clinically and radiologically, the mass was suspicious for either metastatic disease or gastrointestinal stromal tumor. The patient underwent open small bowel resection, and a 6.5 cm segment of the small bowel was sent to pathology. Grossly, a 2.0 cm tan-pink smooth round submucosal polyploid mass protruding into the lumen, mimicking a gastrointestinal stromal tumor, was identified. The tumor was hard and serially sectioned to reveal a white, calcified cut surface. Microscopically, the tumor appeared hypocellular and composed of scant spindle cells embedded in a dense, hyalinized and calcified collagenous stroma. Immunohistochemical stains for pan-cytokeratin, DOG1, desmin, S100, CD34, and MUC4 were negative, and a diagnosis of the calcifying fibrous tumor was rendered. This case provides a rare gross specimen image of calcifying fibrous tumor and highlights the importance of knowledge of rare entities in providing an accurate diagnosis for entities that can mimic other lesions.

Gastrointestinal stromal tumor: outcomes of the past decade in a reference institution in southern brazil / Tumor estromal gastrointestinal (gist): resultados da última década em uma instituição de referência no sul do brasil

ABSTRACT - BACKGROUND: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the digestive tract and has a wide variation in biological behavior; surgical resection remains the main form of treatment. AIM: This study aimed to analyze clinicopathological characteristics and survival of patients with GIST in a reference institution for oncological diseases. METHODS: An observational, longitudinal, and retrospective study of patients diagnosed with GIST from January 2011 to January 2020 was carried out by analyzing epidemiological and clinical variables, staging, surgical resection, recurrence, use of imatinib, and curves of overall survival (OS) and disease-free survival (DFS). RESULTS: A total of 38 patients were included. The majority (58%) of patients were males and the median age was 62 years. The primary organs that were affected by this tumor were stomach (63%) and small intestine (17%). Notably, 24% of patients had metastatic disease at diagnosis; 76% of patients received surgical treatment and 13% received neoadjuvant treatment; and 47% of patients received imatinib as adjuvant or palliative therapy. Tumor recurrence was 13%, being more common in the liver. The 5-year OS was 72.5% and DFS was 47.1%. The operated ones had better OS (87.1% vs. 18.5%) and DFS (57.1% vs. 14.3%) in 5 years. Tumor size ≥5 cm had no difference in OS at 5 years, but DFS was 24.6%, when compared with 92.3% of smaller tumors. Patients who were undergoing neoadjuvant therapy and/or using imatinib did not show any significant differences. CONCLUSIONS: Surgical treatment with adequate margins allows the best gain in survival, and the use of imatinib in more advanced cases has prognostic equity with less advanced-stage tumors. Treatment of metastatic tumors seems promising, requiring further studies.

RESUMO - RACIONAL: O Tumor estromal gastrointestinal (Gastrointestinal stromal tumor - GIST) é a neoplasia mesenquimal mais comum do trato digestivo, possui comportamento biológico variado e a principal forma de tratamento é a ressecção cirúrgica. OBJETIVO: analisar as características clínico-patológicas e a sobrevida de pacientes com GIST em uma instituição de referência para doenças oncológicas. MÉTODOS: Foi realizado um estudo observacional, longitudinal e retrospectivo de pacientes com diagnóstico de GIST de janeiro de 2011 a janeiro de 2020, analisando variáveis epidemiológicas e clínicas, estadiamento, ressecção cirúrgica, recidiva, uso de imatinibe e curvas de sobrevida global (SG) e sobrevida livre de doença (SLD). RESULTADOS: foram incluídos 38 pacientes, a maioria (58%) do sexo masculino, idade mediana de 62 anos. Os principais órgãos primários foram estômago (63%) e intestino delgado (17%). 24% tinham doença metastática ao diagnóstico. 76% receberam tratamento cirúrgico e 13% tratamento neoadjuvante. 47% dos pacientes receberam Imatinib como terapia adjuvante ou paliativa. A recorrência tumoral foi de 13%, mais comum no fígado. SG de 5 anos foi de 72,5% e SLD 47,1%. Os operados tiveram melhor SG (87,1% vs. 18,5%) e SLD (57,1% vs. 14,3%) em 5 anos. O tamanho do tumor igual ou maior que 5 cm não teve diferença na SG em 5 anos, mas SLD foi de 24,6%, em comparação com 92,3% dos tumores menores. Pacientes em terapia neoadjuvante e/ou em uso de imatinibe não apresentaram diferenças significativas. CONCLUSÕES: O tratamento cirúrgico com margens adequadas permite o melhor ganho de sobrevida, e o uso de Imatinibe em casos mais avançados tem equidade prognóstica com tumores em estágio menos avançado. O tratamento de tumores metastáticos parece promissor, necessitando de mais estudos.

Clinical analysis and literature review of 3 cases with pancreatic gastrointestinal stromal tumor / 中华胰腺病杂志

Objective:To explore the clinicopathological characteristics and prognosis of pancreatic gastrointestinal interstitial tumors(pGISTs).Methods:Three cases of pGISTs diagnosed in the Affiliated Tumor Hospital of Guangxi Medical University from August 2015 to October 2019 were analyzed retrospectively. Relevant literatures at home and abroad were searched and reviewed through PubMed, China knowledge Network, Wanfang and VIP databases. The sex, age, tumor size, tumor location, cystic or solid tumor, mode of treatment, mitosis, gene mutation, survival status and survival time were recorded, and the correlation between tumor cystic-solid characteristics and clinicopathological parameters was analyzed. Kaplan-Meier′s method was used to calculate the overall survival (OS) rate and disease-free survival (DFS) rate. Univariate and multivariate Cox regression models were used to analyze the independent risk factors affecting the prognosis of pGISTs.Results:In this group, 3 cases were combined with 71 cases reported in the literature, and a total of 74 cases of pGISTs were included. Among them, 36 cases were male and 38 were female, the age of onset was 55(19-84) years, and the diameter of the tumor was 8 cm(2-35 cm). The tumor location of 71 patients was recorded by literature; 30 cases (42.3%) were located in the head of the pancreas. The solid-cystic characteristics of tumor in 63 patients were recorded by literature, and 33 cases (52.4%) were solid. The mode of treatment of 74 patients was recorded, and 60 cases (81.1%) underwent radical resection. The mitosis figures of 59 patients were recorded, and 33 cases (55.9%) were <5/50 high power field of vision (HPF). The gene mutation of 14 patients was recorded, and 11 cases (78.6%) were c-kit exon gene mutation. Correlation analysis showed that the cystic-solid characteristics of the tumor were significantly correlated with tumor location, tumor diameter and mitosis figures, but not with age, sex, histological type, Ki-67 index and modification National Institutes of Health(mNIH) classification. The 5-year OS rate of 51 patients after radical resection was 88.8%, and the 5-year DFS rate was 60.3%. The 1-year OS rate of patients receiving palliative treatment was 51.9%, and the 1-year fatality rate was 33.3%. Univariate Cox regression analysis showed that male ( P=0.083), mitosis figures >5/50 HPF ( P=0.008)and CD 34 negative ( P=0.055)were risk factors for postoperative recurrence of pGISTs, while multivariate Cox regression analysis showed that mitosis figures >5/50 HPF ( P=0.023)was an independent risk factor for the prognosis of pGISTs. Kaplan-Meier survival analysis showed that patients with mitosis figures ≤5/50 HPF had a higher survival rate ( P=0.0003), but there was no significant difference on prognosis between patients with 10/50 HPF and >10/50 HPF( P=0.3075). Conclusions:pGISTs usually occured in the head of pancreas, and the tumor volume was usually found to be large. The main treatment was radical operation, and the main mutation type was exon mutation of c-kit gene. Nuclear fission image figures >5/50HPF was an independent risk factor for postoperative recurrence.

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)

Resección laparoendoscópica de tumor de la unión gastroesofágica / Laparoendoscopic resection of a tumor of the gastroesophageal junction

RESUMEN La resección gástrica atípica ha demostrado ser beneficiosa para tumores submucosos. La técnica pre senta mayor riesgo cuando estos se desarrollan próximos a la unión esófago-gástrica (UEG). Para esta limitación se propuso la resección intragástrica mediante una técnica mixta combinando laparoscopia y endoscopia. En nuestro medio no existen publicaciones al respecto. Se trata de una mujer de 42 años, con lesión subepitelial-subcardial de 2 cm, evaluada mediante videoendoscopia alta (VEDA), compa tible con tumor del estroma gastrointestinal (GIST) evaluado mediante ecoendoscopia. La lesión fue resecada mediante abordaje combinado laparoendoscópico. Bajo visión laparoscópica se introdujeron en cavidad abdominal trocares con balón, y bajo visión endoscópica intragástrica se introdujeron estos en el estómago y se fijó la pared gástrica a la pared abdominal insuflando dichos balones. Posterior mente se realizó la resección de la lesión con sutura mecánica. El abordaje combinado es seguro y eficaz, simple en manos entrenadas, pero constituye una opción reproducible en casos seleccionados.

ABSTRACT Atypical gastric resection has proved to be beneficial to treat submucosal tumors. The technique is more difficult when these tumors develop next to the gastroesophageal junction (GEJ). Intragastric resection combining endoscopic and laparoscopic approach was proposed to solve this limitation. There are no publications about this technique in our environment. A 42-year-old female patients with a 2-mm subepithelial tumor below the cardia evaluated by upper gastrointestinal (UGI) videoendoscopy and endoscopic ultrasound suggestive of a gastrointestinal stroma tumor (GIST) underwent resection using the combined laparo-endoscopic approach. Under laparoscopic guidance, balloon-tipped trocars were introduced in the abdominal cavity and then into the stomach using endoscopic view. The balloons were inflated to fix the gastirc wall to the abdominal wall. The lesion was resected using mechanical stapler. The combined approach is safe and efficient, and simple to perform for trained professionals, constituting a reproducible option in selected cases.

GIST duodenal asociado a hemorragia digestiva alta. Reporte de caso

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.

Caracterización de paciente con tumores estromales gastrointestinales en Hospital Clínico-Quirúrgico "Arnaldo Milián Castro" / Characterization of Patients with Stromal Gastrointestinal Tumors in Arnaldo Milián Castro Clinical-Surgical Hospital

Introducción: El tumor estromal gastrointestinal es la neoplasia mesenquimal más frecuente en el tracto digestivo, su diagnóstico y tratamiento aun es controvertido por ser infrecuente. Objetivo: Caracterizar los pacientes con tumores estromales gastrointestinales atendidos en nuestro servicio. Métodos: Se realizó un estudio observacional descriptivo longitudinal en pacientes con tumores estromales gastrointestinales atendidos en el servicio de cirugía del Hospital Clínico-Quirúrgico "Arnaldo Milián Castro" desde 2015 hasta 2018. La muestra fue de 17 pacientes. Resultados: Predominaron los pacientes entre 60 y 69 años (35,3 por ciento) del sexo femenino (58,82 por ciento). El dolor abdominal como síntoma más frecuente (58,82 por ciento). El (47,1 por ciento) de los tumores midieron más de 10 cm, celularidad fusiforme (58,8 por ciento), índice mitótico menor de 5 (70,6 por ciento), sin patrón de crecimiento infiltrante (70,6 por ciento). La metástasis ausente en el (82,4 por ciento). Presente con igual frecuencia en estómago e intestino delgado (N = 8), fue igual la presencia de comportamiento agresivo bajo y alto (35,3 por ciento). Predominaron los marcadores CD.117 (41,2 por ciento) y CD.34 (35,3 por ciento). La recesión segmentaria de intestino delgado con anastomosis término-terminal fue la técnica quirúrgica más empleada (35,3 por ciento). Conclusiones: A pesar de ser mayormente grandes y encontrarse en porciones altas del tubo digestivo, muchos presentaron índice mitótico bajo, no obstante, un grupo considerable presentó comportamiento agresivo. Si bien es cierto que casi la totalidad de pacientes egresaron vivos, falta un seguimiento en el centro, lo cual resultaría interesante evaluar en futuros estudios(AU)

Introduction: Gastrointestinal stromal tumor is the most frequent mesenchymal neoplasm in the digestive tract, its diagnosis and treatment is still controversial because it is infrequent. Objective: To characterize the patients with gastrointestinal stromal tumors treated in our service. Methods: A longitudinal descriptive observational study was carried out in patients with gastrointestinal stromal tumors treated in the surgery service of the "Arnaldo Milián Castro" Clinical-Surgical Hospital from 2015 to 2018. The sample consisted of 17 patients. Results: Female patients between 60 and 69 years old (35.3 percent) predominated (58.82 percent). Abdominal pain as the most frequent symptom (58.82 percent). Tumors (47.1 percent) measured more than 10 cm, spindle cell cellularity (58.8 percent), mitotic index less than 5 (70.6 percent), and no infiltrative growth pattern (70.6 percent). Metastasis absent in (82.4 percent). Present with equal frequency in the stomach and small intestine (N = 8), the presence of low and high aggressive behavior (35.3 percent) was the same. The markers CD.117 (41.2 percent) and CD.34 (35.3 percent) predominated. Segmental recession of the small intestine with end-to-end anastomosis was the most widely used surgical technique (35.3 percent). Conclusions: Despite being mostly large and found in high portions of the digestive tract, many presented a low mitotic index, however, a considerable group presented aggressive behavior. Although it is true that almost all the patients were discharged alive, there is a lack of follow-up at the center, which would be interesting to evaluate in future studies(AU)

Comparison of the efficacy and safety of endoscopic submucosal excavation and full-thickness resection for intraluminal gastric stromal tumors / 中华消化内镜杂志

Objective:To compare the efficacy and safety of endoscopic submucosal excavation (ESE) and endoscopic full-thickness resection (EFR) for intraluminal gastric stromal tumors.Methods:Data of 441 patients diagnosed as having gastric stromal tumors in Nanjing Drum Tower Hospital from June 2009 to June 2020 were retrospectively analyzed. A total of 241 patients underwent ESE (ESE group) and 200 EFR (EFR group). Epidemiological data (gender, age and body mass index), tumor size, procedure related parameters, complications, hospital stay, cost and follow-up were compared between the two groups.Results:There were no significant differences between the two groups in gender, age, body mass index, tumor size, National Institutes of Health risk grade, complete resection rate, or block resection rate ( P>0.05). Compared with the EFR group, the ESE group required less titanium clips to close defects in the stomach wall [6.0 (4.0, 6.0) VS 6.0 (5.0, 8.0), U=18 424.0. P<0.001], shorter time of first postoperative fluid intake [2.0 (1.0, 2.0) days VS 2.0 (2.0, 3.0) days, U=17 420.0, P<0.001] and hospital stay [6.0 (5.0, 8.0) days VS 7.0 (6.0, 9.0) days, U=18 906.0, P<0.001], and lower total cost [18.9 (16.4, 21.4) thousand yuan VS 20.9 (18.1, 23.8) thousand yuan, U=17 956.0, P<0.001]. Moreover, the total incidence of complications of the ESE group was lower than that of the EFR group [5.8% (14/241) VS 11.5% (23/200), χ2=4.605, P=0.032]. Patients were followed up with the median period of 45.0 months. The disease recurrence rate was 0.45% (2/441), and there were no disease-related deaths. Conclusion:The efficacy is comparable between ESE and EFR for treating intraluminal gastric stromal tumors, but ESE shows a lower incidence of complications, and requires a shorter hospital stay and lower cost.

Comparative analysis of endoscopic full-thickness resection and surgical resection of large gastric stromal tumors (with video) / 中华消化内镜杂志

Objective:To study the safety and effectiveness of endoscopic full-thickness resection(EFR) in the treatment of large gastric stromal tumors with diameter of 5-7 cm.Methods:Data of 36 patients with large gastric stromal tumors (5-7 cm) who received EFR or surgery (including laparoscopic and open surgery) in the First Affiliated Hospital of Zhengzhou University and confirmed by postoperative histopathology from January 2017 to October 2018 were retrospectively analyzed. Patients were divided into endoscopic group (9 cases) and surgical group (27 cases) according to different resection methods. The perioperative indicators and the total incidence of complications in the two groups were compared.Results:In terms of perioperative indicators, the median operation time of the endoscopic group was significantly longer than that of the surgical group (4.0 hours VS 2.0 hours, P<0.01), and the postoperative fasting time (4.55±0.88 days VS 6.22±2.24 days, t=-2.15, P=0.03) and hospital stay (6.88±1.26 days VS 10.03±2.90 days, t=-3.13, P<0.01) were significantly shorter than those of the surgical group. The median visual analogue scores (VAS) of abdominal pain of the endoscopic group on the first postoperative day (3 VS 6, P<0.01)and the third postoperative day (1 VS 3, P<0.01) were significantly lower than those of the surgical group. The hospitalization cost was significantly less than that of the surgical group (55±14.7 thousand yuan VS 73±24.3 thousand yuan, t=-2.11, P=0.04). In term of the total incidence of complications, the endoscopic group was 11.1% (1/9), which was higher than that of the surgical group [7.4% (2/27)], but there was no statistically significant difference( P=1.00). Conclusion:EFR is safe and effective in the treatment of large gastric stromal tumors (5-7 cm), and has the advantages of less invasiveness, rapid postoperative recovery, and lower hospitalization cost. But how to shorten the operation time is an urgent problem to be solved.

Safety and long-term efficacy of endoscopic resection of large gastric stromal tumors: a multicenter retrospective study / 中华消化内镜杂志

Objective:To evaluate the safety and long-term efficacy of endoscopic resection of gastric stromal tumors with a diameter of >2-4 cm.Methods:The clinical data of 307 patients, who underwent endoscopic or surgical resection and pathologically confirmed to be gastric stromal tumors with a diameter ≤4 cm in Fujian Provincial Hospital, Jinshan Branch of Fujian Provincial Hospital or Fujian Geriatric Hospital from January 2014 to December 2019, were collected. The propensity score matching (1∶1) was performed for the cases with the tumor size of >2-4 cm.Then the incidence of adverse events related to the operation and clinical outcomes were compared between 41 patients in the endoscopic group and 41 patients in the surgical group.Results:Compared with the surgical group, the median operation time in the endoscopic group was significantly shorter (58.0 min VS 108.0 min, Z=-4.789, P<0.001), and the median hospitalization cost was significantly lower (22.7 thousand yuan VS 42.0 thousand yuan, Z=-7.164, P<0.001). There were no significant differences in postoperative fasting time or postoperative hospitalization time between the two groups ( P>0.05). Complications occurred in 7 cases (17.1%) in the endoscopy group, including 5 cases of postoperative acute infection, 1 case of postoperative perforation, and 1 case of postoperative bleeding; all 9 cases (22.0%) in the surgical group developed postoperative acute infection. There was no significant difference in the overall incidence of complications between the two groups ( χ2=0.311, P=0.577). Tumors in both groups were completely removed with negative resection margins. The follow-up time of the endoscopy group was 34.3±15.6 months, and that of the surgical group was 42.2±20.2 months. No recurrence or distant metastasis was observed during the follow-up period in the two groups. Conclusion:Endoscopic resection of large gastric stromal tumor (range>2-4 cm) is safe and effective in the long term, which can be used as one of the methods for gastrointestinal stromal tumors.

Clinicopathological characteristics and prognosis of patients with sporadic multiple primary gastrointestinal stromal tumors / 中华胃肠外科杂志

Objective: To investigate the clinicopathological characteristics and prognosis of sporadic multiple primary gastrointestinal stromal tumor (GIST). Methods: A retrospective cohort study was conducted. Case inclusion criteria: (1) postoperative pathological diagnosis of GIST; (2) primary GIST with single lesion or sporadic multiple primary GIST (sporadic GIST was defined as primary GIST other than familial and syndrome-related GIST, and multiple primary GIST was defined as the number of primary GISTs in the same patient ≥ 2); (3) patients with complete clinicopathological data. Those with tumor recurrence or distant metastasis, and with other malignancies were excluded. Medical records of patients with primary GIST who underwent surgical resection in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2010 to December 2020 were collected. Patients were divided into sporadic multiple primary GIST group and single primary GIST group according to the number of primary GIST lesions. The clinicopathological data and prognosis of the two groups were observed and compared. Results: A total of 1200 patients with primary GIST were enrolled in this study, including 628 males (52.3%) and 572 females (47.7%), with a median onset age of 58 (19-93) years. Among them, 1165 cases (97.1%) were sporadic primary GIST with single lesion; 35 cases (2.9%) were sporadic multiple primary GIST. Among 35 cases of sporadic multiple primary GIST, 3 cases (8.6%) had acid reflux as the first symptom, which was higher than the single primary GIST group (22/1165, 1.9%) (χ(2)=7.437, P=0.006). There were no significant differences in other clinical characteristics between the two groups (all P>0.05). Patients in the sporadic multiple primary GIST group contained a total of 80 primary tumors. Compared with the single primary GIST group, the sporadic multiple primary GIST group had a higher proportion of tumors originating in the stomach [87.5% (70/80) vs. 59.1% (689/1165)], lower proportion of spindle cell in histology [85.0% (68/80) vs. 93.7% (1092/1165)], higher proportion of positive CD34 [97.5% (78/80) vs. 87.6% (1021/1165)], smaller maximum diameter [maximum diameter ≤2.0 cm: 61.2% (49/80) vs. 28.8% (335/1165)], lower mitotic rate [≤5/50 high-power fields (HPF): 93.8% (75/80) vs. 74.5% (868/1165)], lower risk of recurrence [60.0% (48/80) vs. 23.3% (271/1165)], and the differences were all statistically significant (all P<0.05). The 3-year recurrence-free survival rate in the sporadic multiple primary group and the single primary GIST group was 96.6% and 89.3% respectively (P=0.160), and the 3-year overall survival rate was 100.0% and 92.8%, respectively (P=0.088). Conclusions: The most common type of sporadic multiple primary GIST is multiple tumors originating in the stomach at the same time. Compared with primary GIST with single lesion, sporadic multiple primary GIST presents smaller maximum diameter and lower mitotic rate. The prognosis of patients between two groups is not significantly different.

Pay attention to misdiagnosis and differential diagnosis of gastric gastrointestinal stromal tumor / 中华胃肠外科杂志

Due to the lack of typical symptoms and imaging findings, gastric gastrointestinal stromal tumor (GIST) is easy to be misdiagnosed as other gastric tumors clinically. In clinical practice, clinicians should adopt the multidisciplinary team model, fully understand the characteristics of gastric GIST, grasp the key points of its differential diagnosis from other gastric tumors to achieve precise diagnosis and treatment. This paper analyzes the causes of misdiagnosis and elucidates the differential diagnosis of gastric GIST, aiming to improve the accuracy of preoperative diagnosis, reduce the misdiagnosis, and improve treatment outcomes.

A comparision between two different local resections for the treatment of duodenal stromal tumors / 中华普通外科杂志

Objective:To investigate the safety and clinical efficacy of laparoscopy dominated approaches to two different local resections for duodenal stromal tumors.Methods:From May 2015 to May 2021 25 duodenal stromal tumors cases were allocated to wedged resection group (8 cases) and segmental resection (17cases).Results:Compared with the segmental resection group, the operative time in the wedge resection group was significantly shorter [(202±43) min vs. (299±128) min, t=-2.814, P=0.010]. The intraoperative blood loss was 20 (10-50) ml in the wedge resection group and 30 (15-100) ml in the segmental resection group ( t=-1.128, P>0.05). Patients in the wedge resection group had a significantly shorter postoperative hospital stay, 7(9-11) days vs. 14 (10-28) days, t=-2.66, P=0.008. There was no difference in the incidence of postoperative complications and gastric emptying disorders between the two groups ( P>0.05). Conclusion:In spite of laparoscopic,robotic or open approaches, wedge resection and segmental resection based on anatomic location for duodenal stromal tumors are both safe and satisfactory.

Multiple Gastrointestinal Stromal Tumor with Neurofibromatosis Type Ⅰ:Report of One Case / 中国医学科学院学报

Gastrointestinal stromal tumors(GISTs)in the stomach,duodenum,and rectum have low occurrence,and the coexistence GISTs in three parts with neurofibromatosis type Ⅰ(NF-Ⅰ)is even rare.This paper reports a case of GISTs with a family history of NF-Ⅰ.There were multiple nodular masses of different sizes on the patient's face,trunk,and limbs.The patient was admitted due to chest tightness for 5 days and black stools for 1 day.Enhanced CT examination of the abdomen suggested multiple space-occupying lesions in the upper abdomen with multiple small nodules under the abdominal wall,and neurofibromatosis and intestinal stromal tumor cannot be excluded.Finally,surgical pathology confirmed that the multiple tumors in the abdominal cavity were GISTs.The case was confirmed as wild-type GISTs by genetic testing,and the patient recovered well nearly one year after the operation.

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.

Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors. In this study, a targeted next-generation sequencing (NGS) assay with an Oncomine Focus Assay (OFA) panel was used for the genetic characterization of molecular targets in 30 Korean patients with GIST.MATERIALS AND METHODS: Using the OFA that enables rapid and simultaneous detection of hotspots, single nucleotide variants (SNVs), insertion and deletions (Indels), copy number variants (CNVs), and gene fusions across 52 genes relevant to solid tumors, targeted NGS was performed using genomic DNA extracted from formalin-fixed and paraffin-embedded samples of 30 GISTs.RESULTS: Forty-three hotspot/other likely pathogenic variants (33 SNVs, 8 Indels, and 2 amplifications) in 16 genes were identified in 26 of the 30 GISTs. KIT variants were most frequent (44%, 19/43), followed by 6 variants in PIK3CA, 3 in PDGFRA, 2 each in JAK1 and EGFR, and 1 each in AKT1, ALK, CCND1, CTNNB1, FGFR3, FGFR4, GNA11, GNAQ, JAK3, MET, and SMO. Based on the mutation types, majority of the variants carried missense mutations (60%, 26/43), followed by 8 frameshifts, 6 nonsense, 1 stop-loss, and 2 amplifications.CONCLUSIONS: Our study confirmed the advantage of using targeted NGS with a cancer gene panel to efficiently identify mutations associated with GISTs. These findings may provide a molecular genetic basis for developing new drugs targeting these gene mutations for GIST therapy.