Cases Of Gastrointestinal Stromal Tumors Research Articles

Metastatic GIST with a TWIST of RCC: A case report

Gastrointestinal Stromal Tumors (GIST) is a tumor of mesenchymal origin in the digestive tract, arising from Interstitial cells of Cajal. Majorly, they are an incidental finding in people of older age group (>60 years) with very rare bone metastasis. Our aim is to understand the role of genetic mutations in metastasis of GIST and coexistence of other malignancy in the same patient. We present an unusual case of a 75-year-old male with jejunal GIST, managed with resection of the tumor and imatinib, who 15 years later presented with subsequent liver, rare femoral head metastases and coexisting Renal Cell Carcinoma in left kidney. GIST cases can be associated with different syndromes and malignancies. This necessitates additional work up and long term follow up.

Clinicopathological Characteristics and the First Mutational Analysis of Gastrointestinal Stromal Tumors From Mexico: A Single Institution Experience.

Background Gastrointestinal stromal tumors (GISTs) arise from Cajal's interstitial cell precursors and display a variety of genetic mutations, primarily in the KIT and PDGFRA genes. These mutations are linked to tumor location, prognosis, and response to treatment. This study delves into the mutational patterns of GISTs in a Mexican population and their impact on overall survival (OS) and disease-free survival (DFS). Methodology This retrospective study examined 42 GIST cases diagnosed at the Oncology Hospital of the National Medical Center XXI Century between January 2018 and December 2020. Clinical, histological, and immunohistochemical data were gathered, and mutational analysis of KIT and PDGFRA genes was conducted using second-generation sequencing. Results The study group consisted of 52.4% females and 47.6% males, with an average age of 62.6 years. The most common tumor site was the stomach (59.5%), followed by the small intestine (26.2%). KIT mutations were detected in 71.4% of cases, predominantly involving exon 11. PDGFRA mutations were observed in 7.1% of cases. Recurrence was noted in 9.5% of patients, all with high-risk tumors. No significant link was identified between specific mutations and OS or DFS. Conclusions This investigation sheds light on the genetic landscape of GISTs in the Mexican population. While no significant association was established between particular mutations and survival outcomes, the study emphasizes the importance of molecular profiling in treatment decision-making. Further studies with larger sample sizes and longer follow-up periods are necessary to validate these results and explore their clinical relevance.

Addressing the Gap: Racial Disparities and Public Health Strategies in the Epidemiology of Gastrointestinal Stromal Tumors.

Background Gastrointestinal stromal tumors (GISTs) represent the most common mesenchymal neoplasms of the gastrointestinal tract, arising from the interstitial cells of Cajal. These tumors bridge the nervous system and muscular layers of the gastrointestinal tract, playing a crucial role in the digestive process. The incidence of GISTs demonstrates notable variations across different racial and ethnic groups, underscoring the need for in-depth analysis to understand the interplay of genetic, environmental, and socioeconomic factors behind these disparities. Linear regression analysis is a pivotal statistical tool in such epidemiological studies, offering insights into the temporal dynamics of disease incidence and the impact of public health interventions. Methodology This investigation employed a detailed dataset from 2009 to 2020, documenting GIST incidences across Asian, African American, Hispanic, and White populations. A meticulous preprocessing routine prepared the dataset for analysis, which involved data cleaning, normalization of racial terminologies, and aggregation by year and race. Linear regression models and Pearson correlation coefficients were applied to analyze trends and correlations in GIST incidences across the different racial groups, emphasizing an understanding of temporal patterns and racial disparities in disease incidence. Results The study analyzed GIST cases among four racial groups, revealing a male predominance (53.19%) and an even distribution of cases across racial categories: Whites (27.66%), Hispanics (25.53%), African Americans (24.47%), and Asians (22.34%). Hypertension was the most common comorbidity (32.98%), followed by heart failure (28.72%). The linear regression analysis for Asians showed a decreasing trend in GIST incidences with a slope of -0.576, an R-squared value of 0.717, and a non-significant p-value of 0.153. A significant increasing trend was observed for Whites, with a slope of 0.581, an R-squared value of 0.971, and a p-value of 0.002. African Americans exhibited a moderate positive slope of 0.277 with an R-squared value of 0.470 and a p-value of 0.201, indicating a non-significant increase. Hispanics showed negligible change over time with a slope of -0.095, an R-squared value of 0.009, and a p-value of 0.879, suggesting no significant trend. Conclusions This study examines GIST incidences across racial groups, revealing significant disparities. Whites show an increasing trend (p = 0.002), while Asians display a decreasing trend (p = 0.153), with stable rates in African Americans and Hispanics. Such disparities suggest a complex interplay of genetics, environment, and socioeconomic factors, highlighting the need for targeted research and interventions that address these differences and the systemic inequalities influencing GIST outcomes.

GASTRIC GASTROINTESTINAL STROMAL TUMOR WITH SUCCINATE DEHYDROGENASE B DEFICIENCY: CLINICAL CASE

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors found in the gastrointestinal tract, constituting a diverse group of c-Kit positive mesenchymal (stromal or connective tissue) tumors. Their development is primarily associated with mutations in the c-Kit proto-oncogene, leading to structural alterations in the type III transmembrane tyrosine kinase receptor (Kit). This receptor is crucial for regulating mitotic activity and cell differentiation. The activation of the Kit-receptor in tumor cells is identified through the expression of the immunohistochemical marker CD 117 (tyrosine kinase receptor protein), with approximately 80-90% of GISTs testing positive for CD 117. The objective of our study is to improve the diagnosis and treatment of gastrointestinal stromal tumors. The clinical case underscores the challenge of diagnosing gastrointestinal stromal tumors (GISTs) due to the absence of specific and definitive symptoms. In this instance, only radical surgical intervention facilitated an accurate diagnosis. Given the location of the tumor in the pyloric part of the gastric submucosal layer, a reliable biopsy during video esophagogastroduodenoscopy was unfeasible, as the gastric mucosa above the tumor appeared unaffected. Consequently, surgery with complete tumor excision and subsequent pathohistological and immunohistochemical analysis emerged as the primary diagnostic and therapeutic approach. These investigations confirmed the presence of a gastrointestinal stromal tumor of the stomach with succinate dehydrogenase B deficiency. In approximately 80% of GIST cases, succinate dehydrogenase deficiency plays a pivotal role. The absence of succinate dehydrogenase disrupts the Krebs cycle, leading to an accumulation of succinate, an oncometabolite that fuels carcinogenesis. Such tumors exhibit distinctive clinical characteristics, prognostic outcomes, and responsiveness to targeted therapies. Succinate dehydrogenase deficiency can arise from mutations or epigenomic alterations affecting gene expression. Notably, mutations or epigenomic disruptions in any succinate dehydrogenase subunit inevitably result in the loss of subunit B expression.

Efficacy and histologic frequencies of endoscopic ultrasonography‐guided tissue acquisition using conventional fine‐needle aspiration needles for gastric subepithelial hypoechoic mass

AbstractIntroduction/PurposeFor gastric subepithelial lesions (GSELs) showing a hypoechoic mass (HM) on endoscopic ultrasonography (EUS) imaging, the utility of EUS‐guided tissue acquisition using conventional fine‐needle aspiration needles (EUS‐TA‐CFNAN) and the frequency of histological types remain unclear. This study aimed to examine this issue.MethodsThis prospective observational study enrolled 291 consecutive patients who underwent EUS‐TA‐CFNAN for GSELs showing an HM (GSELHM) on EUS imaging. Immunohistochemical analysis was performed for all EUS‐TA‐CFNAN and surgically resected specimens. The main outcome measures were the technical results of EUS‐TA‐CFNAN and the frequency of histological types in GSELHM.ResultsThe endoscopic ultrasound‐guided tissue acquisition using conventional fine‐needle aspiration needle diagnosis rate for GSELHM was 80.1% (95% confidence interval [CI]: 75.0–84.5, 233/291). It was significantly lower for antrum (P = 0.004) and lesions smaller than 2 cm (P = 0.003). There were no adverse events. The immunohistochemical diagnoses of EUS‐TA‐CFNAN included 149 cases of gastrointestinal stromal tumour (GIST) (51.2%), 48 cases of leiomyoma (16.5%), 11 cases of schwannoma (3.8%), 8 cases of the ectopic pancreas (2.7%), 5 cases of subepithelial lesion like cancer (1.7%), 12 cases of other lesions (4.1%), and 58 cases of undiagnosable lesions (19.9%). The frequency of malignant or potentially malignant tumour in GSELHM was 55.0% (95% CI: 49.1–60.8, 160/291). Surgery was performed in 149 patients according to the conclusive EUS‐TA‐CFNAN results, in which the diagnostic accuracy of EUS‐TA‐CFNAN was 97.3% (95% CI: 94.7–99.9, 145/149).ConclusionThe use of EUS‐TA‐CFNAN for GSELHMs is safe and accurate. Gastric subepithelial lesions showing a hypoechoic mass have a reasonably high possibility of containing malignant or potentially malignant tumours, including GISTs.

Deciphering the tumor immune microenvironment of imatinib-resistance in advanced gastrointestinal stromal tumors at single-cell resolution

The heterogeneous nature of tumors presents a considerable obstacle in addressing imatinib resistance in advanced cases of gastrointestinal stromal tumors (GIST). To address this issue, we conducted single-cell RNA-sequencing in primary tumors as well as peritoneal and liver metastases from patients diagnosed with locally advanced or advanced GIST. Single-cell transcriptomic signatures of tumor microenvironment (TME) were analyzed. Immunohistochemistry and multiplex immunofluorescence staining were used to further validate it. This analysis revealed unique tumor evolutionary patterns, transcriptome features, dynamic cell-state changes, and different metabolic reprogramming. The findings indicate that in imatinib-resistant TME, tumor cells with activated immune and cytokine-mediated immune responses interacted with a higher proportion of Treg cells via the TIGIT-NECTIN2 axis. Future immunotherapeutic strategies targeting Treg may provide new directions for the treatment of imatinib-resistant patients. In addition, IDO1+ dendritic cells (DC) were highly enriched in imatinib-resistant TME, interacting with various myeloid cells via the BTLA-TNFRSF14 axis, while the interaction was not significant in imatinib-sensitive TME. Our study highlights the transcriptional heterogeneity and distinct immunosuppressive microenvironment of advanced GIST, which provides novel therapeutic strategies and innovative immunotherapeutic agents for imatinib resistance.

Gastrointestinal stromal tumors in fine-needle aspiration biopsies.

Gastrointestinal stromal tumors (GISTs), although rare, are the most common mesenchymal neoplasms of the gastrointestinal tract. Their potential for malignancy underscores the significance of identifying them through cytomorphologic findings and pertinent immunohistochemical markers. GISTs can emerge anywhere along the gastrointestinal tract with a predilection for the stomach. The clinical manifestations vary from nonspecific abdominal symptoms to incidental discovery during diagnostic interventions for unrelated signs and symptoms. Cytologically, GIST aspirates contain spindle or epithelioid cells with immunoreactivity for CD117/c-KIT, DOG-1, and CD34. Molecularly, KIT or PDGFRA mutations are prevalent, guiding targeted therapy with tyrosine kinase inhibitors. Distinct subtypes like succinate dehydrogenase-deficient GISTs pose challenges, often affecting younger individuals and displaying unique features. Histologically, GISTs are graded by mitotic rates, aiding prognostication. Distinguishing GISTs from similar entities is pivotal, necessitating attention to their immunostaining patterns for making an accurate diagnosis and molecular alterations for effectively planning treatment. Common differential diagnoses include leiomyoma, schwannoma, and solitary fibrous tumor. This article presents a classic GIST case and showcases relatively simple diagnostic clues for identifying similar lesions that may occur in diverse locations.

Analysis of Thoracoscopic Enucleation Combined with Esophagoscopy in the Prone Position for Esophageal Submucosal Tumor.

Background: Esophageal submucosal tumors (SMTs) are rare, occurring in less than 1% of esophageal neoplasms. For surgical treatment of esophageal SMTs, enucleation is usually the procedure of choice for benign tumors. This study aimed at evaluating the surgical technique and outcomes of thoracoscopic enucleation with esophagoscopy for esophageal SMTs. Methods: Patients with esophageal SMTs who underwent thoracoscopic enucleation between 2015 and 2022 were retrospectively investigated. Surgery was performed with the patient in the prone position. First, an esophagoscope was inserted, and a sodium hyaluronate solution with indigo carmine dye was injected into the submucosal layer just below the tumor. Next, under thoracoscopy, the tumor was exposed through a thoracoscopic incision and dissection of the muscularis propria and adventitia was performed at the tumor site. The colored layer resulting from the previously injected dye was identified, and tumor enucleation was performed under guidance of the dye so as not to damage the mucosa or pseudocapsule. Results: In total, 5 surgeries were performed. The mean operative time was 122.6 minutes (range 84-168 minutes), mean blood loss was 21.1 mL (range 0-80 mL), and mean postoperative hospital stay was 8 days (range 7-10 days). There were no postoperative complications. Pathological diagnosis revealed 2 cases of gastrointestinal stromal tumors, 2 cases of schwannoma, and 1 case of leiomyoma. Conclusions: We believe that this technique is a useful and safe method of performing thoracoscopic enucleation of esophageal SMTs because the injected dye provides an indicator of the resection line during enucleation.

Is lymph node metastasis an event indicating an advanced gastrointestinal stromal tumor?

754 Background: The clinicopathological features and prognosis of gastrointestinal stromal tumors (GISTs) with lymph node metastasis remain controversial owing to their low incidence. A multicenter retrospective cohort study was conducted to compare the clinicopathological features and oncologic outcomes of GIST with and without lymph node metastases. Methods: The medical records of patients with GISTs in 16 large medical centers in China from January 2014 to December 2020 were reviewed. Patients were divided into three groups: no metastasis, lymph node metastasis without distant metastasis, and distant metastasis without lymph node metastasis. Propensity score matching (PSM) was performed to reduce confounding factors. Results: A total of 1109 cases of primary GIST were included in this study, comprising 607 males (54.7%) and 502 females (45.3%), with a mean age of 56.6±11.9 years. There were 1024 patients (92.3%) with no lymph node metastasis after surgery, and 85 patients (7.7%) had lymph node metastasis. Compared to that in GIST without lymph node metastasis, the proportion of non-gastric GIST was higher in GIST with lymph node metastasis (52.9% vs. 40.7%) with a larger tumor diameter (>10 cm: 36.5% vs. 18.1%) and more patients with distant metastasis (11.8% vs. 3.5%). Tumor location not in the stomach, the largest tumor diameter, and distant metastasis were independent risk factors for GIST with lymph node metastasis (all P < 0.05). After PSM, 96, 48, 24 patients comprised no metastasis, lymph node metastasis without distant metastasis, and distant metastasis without lymph node metastasis, respectively. The relapse-free survival (RFS) of the lymph node metastasis group was comparable to that of the distant metastasis group without lymph node metastasis ( P = 0.368) and significantly inferior to that of no metastases ( P = 0.042). Conclusions: The prognosis of patients with GIST with lymph node metastasis was comparable to that of patients with distant metastasis and significantly worse than that of patients without metastasis. Lymph node metastasis may be an advanced event in GIST.

Reappraisals of biological behaviors of PDGFRA mutant gastrointestinal stromal tumor

Objective: To investigate the biological behavior spectrum of platelet-derived growth factor alpha receptor (PDGFRA)-mutant gastrointestinal stromal tumor (GIST), and to compare the clinical values of the Zhongshan method of benign and malignant evaluation with the modified National Institutes of Health (NIH) risk stratification. Methods: A total of 119 cases of GIST with PDGFRA mutation who underwent surgical resection at Zhongshan Hospital, Fudan University from 2009 to 2020 were collected. The clinicopathological data, follow-up records, and subsequent treatment were reviewed and analyzed statistically. Results: There were 79 males and 40 females. The patients ranged in age from 25 to 80 years, with a median age of 60 years. Among them, 115 patients were followed up for 1-154 months, and 13 patients progressed to disease. The 5-year disease-free survival (DFS) and overall survival (OS) were 90.1% and 94.1%, respectively. According to the modified NIH risk stratification, 8 cases, 32 cases, 38 cases, and 35 cases were very-low risk, low risk, intermediate risk, and high risk, and 5-year DFS were 100.0%, 95.6%, 94.3%, and 80.5%, respectively. There was no significant difference in prognosis among the non-high risk groups, only the difference between high risk and non-high risk groups was significant (P=0.029). However, the 5-year OS was 100.0%, 100.0%, 95.0% and 89.0%, and there was no difference (P=0.221). According to the benign and malignant evaluation Zhongshan method, 43 cases were non-malignant (37.4%), 56 cases were low-grade malignant (48.7%), 9 cases were moderately malignant (7.8%), and 7 cases were highly malignant (6.1%). The 5-year DFS were 100.0%, 91.7%, 77.8%, 38.1%, and the difference was significant (P<0.001). The 5-year OS were 100.0%, 97.5%, 77.8%, 66.7%, the difference was significant (P<0.001). Conclusions: GIST with PDGFRA gene mutation shows a broad range of biological behavior, ranging from benign to highly malignant. According to the Zhongshan method, non-malignant and low-grade malignant tumors are common, the prognosis after surgery is good, while the fewer medium-high malignant tumors showed poor prognosis after surgical resection. The overall biological behavior of this type of GIST is relatively inert, which is due to the low proportion of medium-high malignant GIST. The modified NIH risk stratification may not be effective in risk stratification for PDGFRA mutant GIST.

Characteristics of gastrointestinal stromal tumors associated to other tumors: Características de los tumores del estroma gastrointestinal asociados a otras neoplasias.

IntroductionOur aim is to analyze the differences between sporadic gastrointestinal stromal tumors and those associated with other tumors. MethodsRetrospective cohort study including patients with diagnosis of gastrointestinal stromal tumors operated at our center. Patients were divided into two groups, according to whether or not they had associated other tumors, both synchronously and metachronously. Disease free survival and overall survival were calculated for both groups. Results96 patients were included, 60 (62.5%) were male, with a median age of 66.8 (35–84). An association with other tumors was found in 33 cases (34.3%); 12 were synchronous (36.3%) and 21 metachronous (63.7%). The presence of mutations in associated tumors was 70% and in non-associated tumors 75%. Associated tumors were classified as low risk tumors based on Fletcher’s stratification scale (p = 0.001) as they usually were smaller in size and had less than ≤5 mitosis per 50 HPF compared to non-associated tumors. When analyzing overall survival, there were statistically significant differences (p = 0,035) between both groups. ConclusionThe relatively high proportion of gastrointestinal stromal tumors cases with associated tumors suggests the need to carry out a study to rule out presence of a second neoplasm and a long-term follow-up should be carried out in order to diagnose a possible second neoplasm. Gastrointestinal stromal tumors associated with other tumors have usually low risk of recurrence with a good long-term prognosis.

Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report

BackgroundGastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney–Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1.Case presentationHerein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia. Fluoresce in situ hybridization analysis of platelet-derived growth factor receptor alpha revealed deletion in 42% of the tumor cells studied. Interestingly, next generation sequencing revealed platelet-derived growth factor receptor alpha exon 12 mutation (p.Y555C) and exon 14 mutation (p.N659Y).ConclusionsIn conclusion, osseous metaplasia in GIST is a very rare event and only few cases are reported in the literature. The number of reported cases is inadequate to confirm the pathogenesis and the prognosis.

Biological and therapeutic implications of RKIP in Gastrointestinal Stromal Tumor (GIST): an integrated transcriptomic and proteomic analysis

BackgroundGastrointestinal stromal tumors (GIST) represent a significant clinical challenge due to their metastatic potential and limited treatment options. Raf kinase inhibitor protein (RKIP), a suppressor of the MAPK signaling pathway, is downregulated in various cancers and acts as a metastasis suppressor. Our previous studies demonstrated low RKIP expression in GIST and its association with poor outcomes. This study aimed to expand on the previous findings and investigate the biological and therapeutic implications of RKIP loss on GIST.MethodsTo validate the RKIP prognostic significance, its expression was evaluated by immunohistochemistry in 142 bona fide GIST cases. The functional role of RKIP was evaluated in vitro, using the GIST-T1 cell line, which was knocked out for RKIP. The biological and therapeutic implications of RKIP were evaluated by invasion, migration, apoptosis, and 2D / 3D viability assays. Additionally, the transcriptome and proteome of RKIP knockout cells were determined by NanoString and mass spectrometry, respectively.ResultsImmunohistochemical analysis revealed the absence of RKIP in 25.3% of GIST cases, correlating with a tendency toward poor prognosis. Functional assays demonstrated that RKIP knockout increased GIST cells’ invasion and migration potential by nearly 60%. Moreover, we found that RKIP knockout cells exhibited reduced responsiveness to Imatinib treatment and higher cellular viability in 2D and 3D in vitro models, as assessed by apoptosis-related protein expression. Through comprehensive genetic and proteomic profiling of RKIP knockout cells, we identified several putative RKIP-regulated proteins in GIST, such as COL3A1.ConclusionsUsing a multidimensional integrative analysis, we identified, for the first time in GIST, molecules and pathways modulated by RKIP that may potentially drive metastasis and, consequently, poor prognosis in this disease.

Gastrointestinal stromal tumor in North Africa and the middle east: updates in presentation and management from an 11-year retrospective cohort

ABSTRACT Objectives This study described the epidemiological, clinical, and survival profiles of patients with gastrointestinal stromal tumor (GIST) in North Africa and the Middle East (AfME). Methods This regional, multicenter, observational, retrospective study collected 11-year data on demographics, medical history, disease characteristics, current treatment approaches of GIST, the safety of the most common tyrosine kinase inhibitors (TKIs), second cancers, and survival status. Results Data of 201 eligible patients were analyzed: mean age was 56.9 ± 12.6 years; 111 (55.2%) patients were men, 21 (10.4%) patients had previous personal malignancy. The most common clinical presentation of GIST was dysphagia [92 (45.8%) patients]. The stomach was the most common primary site in 120 (60.7%) patients, 171 (85.1%) patients had localized disease at diagnosis. 198 (98.5%) GIST cases were CD117/CD34-positive. Imatinib was used in the neoadjuvant (18/21 patients), adjuvant (85/89 patients), and first-line metastatic treatment (28/33 patients) settings. The most common non-hematological toxicity associated with TKIs was vomiting in 32/85 (37.6%) patients. Overall, 100 (49.8%) patients (95%CI: 42.8–56.7%) were alive and disease-free while 30 (14.9%) patients were alive with active disease. Conclusion Presentation of GIST in our AfME population is consistent with global reports, being more frequent in patients >50 years old and having the stomach as the most common primary site. Unlike what is usually reported, though, we did have more patients with lymphatic spread of the disease. Despite the global trend and advances in the treatment of GIST according to molecular profile, this is still far to happen in our population given the lack of access to molecular profiles and the high associated cost.

Gastrointestinal bleeding caused by a hidden gastrointestinal stromal tumor of the stomach

Gastrointestinal stromal tumors (GISTs) are the most common type of mesenchymal tumor of the gastrointestinal tract. This report presents a case of a large exophytic stomach GIST that was not visible at esophagogastroduodenoscopy (EGD). A 70-year-old female presented to the emergency room with presyncopal symptoms and a history of several episodes of melena. Blood tests revealed severe anemia. She underwent an EGD, which yielded negative results. Subsequently, she was hospitalized and scheduled for ileo-colonscopy and videocapsule enteroscopy (VCE). Abdominal ultrasound showed the presence of a mass in the epigastric region near the liver. Computed tomography (CT) scans confirmed the presence of a mass in the gastric wall that, at endoscopic ultrasound (EUS) exam and biopsy, was diagnosed as a tumor that originated from the muscular layer of the stomach. Surgery was performed to excise the tumor, and the diagnosis of GIST was confirmed by histomorphological and immunohistochemical findings. According to the postoperative assessment, the tumor was classified as high risk, for which the recommended treatment is imatinib.

Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report

BackgroundNeurofibromatosis type 1 (NF1) is known to be associated with the frequent occurrence of unique gastrointestinal stromal tumors (GISTs), preferably occurring in the small intestine, with no mutations in the c-kit proto-oncogene or platelet-derived growth factor receptor-alpha (PDGFRA), with a high tendency for multifocal development, indolent nature, with low proliferation activity and favorable prognosis.Case presentationA woman in her forties visited her local doctor complaining of menstrual pain; a large mass was detected in her lower abdomen, and she was referred to our hospital. The patient had hundreds of skin warts and café au lait spots. The patient’s mother had been diagnosed with type 1 neurofibromatosis. The patient met the diagnostic criteria for NF1 and was diagnosed with NF1. Ultrasonography showed a large heterogeneous cystic mass with various echo patterns, solid compartments and multiple septations. Magnetic resonance imaging showed a multilocular cystic mass with liquid content exhibiting various intensities, including that of blood. A small round solid mass was also observed close to the cystic tumor. Contrast-enhanced computed tomography showed that the round solid mass showed strong enhancement in the early phase, unlike the cystic tumor component. Open laparotomy revealed a multicystic exophytic tumor measuring 11.5 cm originating from the jejunal wall, 20 cm distal to the duodenojejunal flexure. A solid tumor measuring 2.1 cm was also found on the anal side of the large tumor. We resected the short segment of the jejunum, including the two lesions. Microscopic findings revealed that the cystic and solid tumors consisted of spindle-shaped tumor cells showing little atypia with a fascicular or bundle arrangement. Nuclear mitosis was scarce. Immunostaining of the tumor cells showed positive staining for KIT and DOG1 and negative staining for S100 and desmin. The NF1 patient was diagnosed with multiple GISTs accompanied by intratumoral hemorrhagic denaturation arising from the jejunum. The TNM staging was pT4N0M0, stage IIIA.ConclusionWe report a case of GISTs associated with NF1 that showed a jejunal origin, multifocal development and few mitotic figures. The recurrence risk, survival prognosis and need for adjuvant chemotherapy, particularly in cases where the initial GIST exhibits a very indolent pathology in NF1-related GISTs, remain to be elucidated.

Understanding and Addressing the Challenges of Gastrointestinal Stromal Tumor (GIST): Towards Improved Diagnosis and Treatment Strategies

Gastrointestinal stromal tumor (GIST) is a prevalent mesenchymal tumor affecting the digestive tract, with the stomach being the most common location. While some GIST cases are sporadic with no known risk factors, certain factors like age and genetic abnormalities increase the risk. Early diagnosis of GIST remains challenging due to atypical symptoms, leading to late diagnoses and reduced survival rates. This research aims to identify specific risk factors related to local populations, develop accurate early diagnosis methods, and formulate more effective treatment strategies. The study involves a retrospective observational approach, collecting data from medical records of GIST patients and analyzing risk factors and treatment outcomes. The results highlight the increasing prevalence of GIST globally, emphasizing the need for increased awareness and early diagnosis. Challenges in early diagnosis and treatment underscore the importance of public awareness, medical education, and collaborative efforts for better GIST management. This research offers implications for the development of diagnostic guidelines and more effective treatment approaches, ultimately improving the prognosis and quality of life for GIST patients.

Endoscopic Ultrasonography-Guided Fine-Needle Aspiration for Duodenal Subepithelial Lesions Showing a Hypoechoic Mass on Endoscopic Ultrasound Imaging.

For duodenal subepithelial lesions showing a hypoechoic mass on endoscopic ultrasound imaging, the utility of endoscopic ultrasound-guided fine-needle aspiration and the frequency of histological types have not been the focus of previous literature. This study aimed to clarify this. This prospective observational study enrolled 22 consecutive patients who underwent endoscopic ultrasoundguided fine-needle aspiration for duodenal subepithelial lesions with hypoechoic mass on endoscopic ultrasound. Immunohistochemical analysis was performed for all endoscopic ultrasound-guided fine-needle aspiration and surgically resected specimens. The main outcome measures were the technical results of endoscopic ultrasound-guided fine-needle aspiration and the frequency of histological types of duodenal subepithelial lesions with hypoechoic mass. Thirteen fine-needle aspiration specimens were obtained from the duodenal bulb and eight from the descending duodenal region. The puncture was not performed because of intervening vessels in one patient. The diagnostic rate was 81% (95% confidence interval: 58.1-94.6, 17/21 patients). In 12 patients receiving surgical resection (excluding one cancellation of endoscopic ultrasoundguided fine-needle aspiration), the diagnostic accuracy of endoscopic ultrasound-guided fine-needle aspiration was 75% (95% confidence interval: 42.8-94.5, 9/12 patients). No complications were observed. The histopathological diagnoses included 11 cases of gastrointestinal stromal tumor (50%), 2 cases of leiomyoma (9%), 2 cases of metastatic cancer (9%), 2 cases of benign inconclusive, and 1 case each of carcinoid, malignant lymphoma, leiomyosarcoma, gauzeoma, and aberrant pancreas (4.5% each). The frequency of malignant tumors in the duodenal subepithelial lesions with hypoechoic mass group was 73% (16/22 patients). Endoscopic ultrasound-guided fine-needle aspiration for duodenal subepithelial lesions with hypoechoic mass was safe and accurate. As duodenal subepithelial lesion with hypoechoic mass has a reasonably high possibility of containing malignant tumors, it is desirable to perform endoscopic ultrasound-guided fine-needle aspiration.

An Unusual Presentation of Huge Gastric Cystic Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumors (GISTs), nonepithelial, mesenchymal tumors arising from the interstitial cells of Cajal. The diagnostic tool for the GISTs is tyrosine kinase growth factor receptor (c-KIT / CD117) expression. They most commonly occur in the the stomach. Here we reported a rare case of GIST, presenting as a large cystic mass connected to the main tumor with a peduncle. A 44-year-old female patient presented to the emergency department with abdominal pain and intestinal obstruction. Emergency laparatomy revealed a cystic mass of approximately 25 cm in diameter. The pathological diagnosis was gastrointestinal stromal tumor with cystic degenaration. Tumor contained areas of necrosis, high mitotic index, c-KIT positive and was large in diameter. Cystic GISTs have poor prognostic factors and patients should be followed closely in the postoperative period.

A vanished gastric gastrointestinal stromal tumor

BackgroundLocal resection is the standard treatment for gastrointestinal stromal tumors (GISTs). Laparoscopic and endoscopic cooperative surgery (LECS) is a minimally invasive surgery used to resect GISTs. Herein, we report an extremely rare case of a gastric GIST that grossly vanished during LECS.Case presentationA 50-year-old Japanese female was referred to our hospital after an abnormality was detected during an esophagogastroduodenoscopy (EGD) at her annual health checkup. Based on EGD, endoscopic ultrasound (EUS), and computer tomography (CT) findings, the patient was diagnosed with a 50-mm submucosal tumor (SMT) with intraluminal growth on the anterior wall of the lesser curvature of the upper body of the stomach. We routinely use LECS to treat the intraluminal growth type of GISTs. During the intraoperative endoscopy, the intraluminal submucosal tumor, which was detected preoperatively, had vanished. A red-white scar was observed in the regressed tumor region. LECS was performed by resecting at a distance away from the scar tissue and closing the gastric wall with intracavitary sutures. In the evaluation from the tumor section view of the original resected specimen, a 22 × 14 × 8 mm lobular neoplasm was observed that was predominantly located in the gastric submucosa to the muscularis propia. Pathological findings confirmed the diagnosis of GIST with intermediate risk indicated by the Fletcher classification. The patient continued postoperative adjuvant chemotherapy with imatinib and no recurrence was detected over 12 months after surgery.ConclusionLECS was performed on the vanished gastric GIST, providing the best surgical treatment and leading to an accurate diagnosis and optimal postoperative care.