Neurofibromatosis type 1 associated multiple and cystic gastrointestinal tumors: 02 case reports

Rahou, Fatima Zahra; Miry, Achraf; Bennani, Amal; Bouziane, Mohammed

doi:10.1016/j.ijscr.2020.09.072

Cited by 1 publication

(3 citation statements)

References 14 publications

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“…Gastrointestinal stromal tumors (GIST) are mesenchymal tumors that arise from the interstitial cells of Cajal of the subepithelial layer of the gastrointestinal tract, which regulate gut motility [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…Although very rare, with an estimated incidence of 1/100,000/year [4], GIST are the most common mesenchymal neoplasms of the gastrointestinal tract [1,2]. Some syndromes are linked to GIST, like neurofibromatosis type 1 (NF1) [4].…”

Section: Introductionmentioning

confidence: 99%

“…Gastrointestinal stromal tumors association to NF1 is established, but the different aspects of the physiopathological, clinical, and the treatment haven't been established yet [1], which cause difficulties in the clinical practice.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Neurofibromatosis type 1-associated gastrointestinal stromal tumor: A case report and review of the literature

Campos

Coelho

Freitas

et al. 2022

J Case Rep Images Surg

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Introduction: Gastrointestinal stromal tumors (GIST), although very rare, are the most common mesenchymal neoplasms of the gastrointestinal tract and develop in approximately 5–25% of patients with neurofibromatosis type 1 (NF1). Neurofibromatosis type 1-associated GIST (NF1-GIST) differ phenotypically and genotypically from sporadic GIST, neither present receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor-alfa (PDGFR-alfa) mutation and have propensity to be multifocal and to occur in the small bowel. Case Report: We present a case of NF1-GIST, with multiple primary lesions, initially diagnosed as metastatic GIST, with treatment implications. Conclusion: Different characteristics of NF1-GIST should be empathized so the evidence of multifocal GIST not be confused with advanced/metastatic GIST, influencing treatment options. Identifying this tumor early allows surgical treatment with potential cure, because GIST are mostly treatable tumors with indolent behavior. Currently, no standard drug therapy for unresectable or relapsed NF1-GIST has been established.

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Section: Introductionmentioning

confidence: 99%