Current Molecular Profile of Gastrointestinal Stromal Tumors and Systemic Therapeutic Implications

Mathias-Machado, Maria Cecilia; Jesus, Victor Hugo Fonseca de; Oliveira, Leandro Jonata de Carvalho; Neumann, Marina; Peixoto, Renata D’Alpino

doi:10.3390/cancers14215330

Cited by 12 publications

(10 citation statements)

References 102 publications

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“…Among gastric subepithelial lesions, GISTs are the most frequent malignant mesenchymal tumors with variable clinical behavior. [18][19][20] In contrast, leiomyoma, ectopic pancreas, and lipoma are representative benign lesions in the stomach that present as subepithelial lesions. GISTs virtually arise anywhere in the stomach, whereas ectopic pancreas and lipoma develop in the antrum and leiomyoma mostly occur in the cardia.…”

Section: Discussionmentioning

confidence: 99%

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Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Iwamuro

Mitsuhashi

Inaba

et al. 2023

Digestive Endoscopy

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ObjectivesLong‐term outcomes of gastric subepithelial lesions have not been elucidated. To reveal the natural history, we initiated a prospective, 10‐year follow‐up of patients with small (≤20 mm) gastric subepithelial lesions in September 2014. Here, we report the results of an interim analysis of a prospective observational study.MethodsIn total, 567 patients with 610 lesions were prospectively registered between September 2014 and August 2016. The location, size, morphology, and number of subepithelial lesions were recorded on a web‐based case report form. This study has been conducted as an Academic Committee Working Group of the Japan Gastroenterological Endoscopy Society.ResultsThe endoscopic follow‐up period was 4.60 ± 1.73 years (mean ± standard deviation), and survival data were investigated for 5.28 ± 1.68 years. This interim analysis revealed that the estimated cumulative incidence of a size increase ≥5 mm, after accounting for patients' death and resection of the tumor as competing risk events, was 4.5% at 5 years. In addition, the estimated cumulative incidence of lesion size increase ≥5 mm or resection of lesions was 7.9% at 5 years, and that of size increase ≥10 mm or resection of lesions was 4.5% at 5 years.ConclusionThese results indicate that approximately one in 13 patients with small (≤20 mm) gastric subepithelial lesions may require resection or further investigation for increased tumor size (≥5 mm) within 5 years.

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Section: Discussionmentioning

confidence: 99%

“…Among gastric subepithelial lesions, GISTs are the most frequent malignant mesenchymal tumors with variable clinical behavior 18–20 . In contrast, leiomyoma, ectopic pancreas, and lipoma are representative benign lesions in the stomach that present as subepithelial lesions.…”

Section: Discussionmentioning

confidence: 99%

Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Iwamuro

Mitsuhashi

Inaba

et al. 2023

Digestive Endoscopy

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“…In about 5-7.5% of all GISTs, the driving oncogenic mechanism is linked to a deficiency in the SDH complex [7]. In cases where neither KIT/PDGFRA mutations nor SDH complex deficiencies are detected, other rare driver alterations have been identified, including changes in the rat sarcoma virus (RAS) gene family, the v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) gene, NF1, the neurotropic tyrosine receptor kinase 1-3 (NTRK1-3) genes, and the fibroblast growth factor receptor 1-4 (FGFR1-4) genes [29,30]. Despite these advancements, "true" WT GISTs, which lack any identifiable driving alterations even after comprehensive molecular analysis, remain extremely rare [31].…”

Section: Genetic Basis and Molecular Pathogenesis Of Gastrointestinal...mentioning

confidence: 99%

Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature

Mirovic,

Stojanovic,

Jovanovic

et al. 2024

CIMB

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This case report details a rare instance of a perforated jejunal gastrointestinal stromal tumor (GIST) in a 76-year-old female patient. The patient presented with acute abdominal pain and distension without any changes in bowel habits or episodes of nausea and vomiting. Initial diagnostics, including abdominal plain radiography and ultrasonography, were inconclusive; however, a computed tomography (CT) scan revealed pneumoperitoneum and an irregular fluid collection suggestive of small intestine perforations. Surgical intervention uncovered a 35 mm jejunal GIST with a 10 mm perforation. Histopathological examination confirmed a mixed cell type GIST with high malignancy potential, further substantiated by immunohistochemistry markers CD117, DOG1, and vimentin. Molecular analysis illuminated the role of key oncogenes, primarily KIT and PDGFRA mutations, emphasizing the importance of molecular diagnostics in GIST management. Despite the severity of the presentation, the patient’s postoperative recovery was favorable, highlighting the effectiveness of prompt surgical and multidisciplinary approaches in managing complex GIST cases.

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“…NF1‐associated GISTs are the most common GI manifestation in individuals with NF1, occurring at a 7% prevalence rate and increasing to 25% at autopsy (Kinoshita et al, 2004; Mathias‐Machado et al, 2022; Takazawa et al, 2005). NF1 is also more than 45‐fold overrepresented amongst GIST patients.…”

Section: Gastrointestinal Stromal Tumorsmentioning

confidence: 99%

Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations

Weisman

McQuaid

Radtke

et al. 2023

American J of Med Genetics Pt A

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Neurofibromatosis (NF) and schwannomatosis (SWN) are genetic conditions characterized by the risk of developing nervous system tumors. Recently revised diagnostic criteria include the addition of genetic testing to confirm a pathogenic variant, as well as to detect the presence of mosaicism. Therefore, the use and interpretation of both germline and tumor‐based testing have increasing importance in the diagnostic approach, treatment decisions, and risk stratification of these conditions. This focused review discusses approaches to genetic testing of NF‐ and SWN‐related tumor types, which are somewhat rare and perhaps lesser known to non‐specialized clinicians. These include gastrointestinal stromal tumors, breast cancer, plexiform neurofibromas with or without transformation to malignant peripheral nerve sheath tumors, gliomas, and schwannomas, and emphasizes the need for inclusion of genetic providers in patient care and appropriate pre‐ and post‐test education, genetic counseling, and focused evaluation by a medical geneticist or other healthcare provider familiar with clinical manifestations of these disorders.

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Current Molecular Profile of Gastrointestinal Stromal Tumors and Systemic Therapeutic Implications

Cited by 12 publications

References 102 publications

Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature

Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations

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