Dataset Information

Multifocal gastrointestinal stromal tumor: A case report with CT, surgical, and histopathologic correlation.

ABSTRACT: Mutifocal gatrointestinal stromal tumors (GISTs) are rare conditions that are usually associated with other syndromes or reported in pediatric cases. The sporadic form represents only 11% of GISTs. The imaging features on a contrast-enhanced computed tomography examination, surgery and histopathology of a rare case of a sporadic multifocal small bowel GISTs in an emergency setting are described. This case highlights how GISTs appearances on an imaging computed tomography may vary. Radiologists can have difficulty in defining the point of origin of large lesions. In our case, laparotomy open surgery was mandatory to figuring out the correct diagnosis.

SUBMITTER: Brogna B

PROVIDER: S-EPMC6545350 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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Multifocal gastrointestinal stromal tumor: A case report with CT, surgical, and histopathologic correlation.

Brogna Barbara B Imbriani Giusy Carmen GC Forte Nicola Rosario NR Schettino Michele M Morelli Raffaele R Venditti Michele M Manganiello Carmine C Biondo Francesco Giuseppe FG

Radiology case reports 20190531 8

Mutifocal gatrointestinal stromal tumors (GISTs) are rare conditions that are usually associated with other syndromes or reported in pediatric cases. The sporadic form represents only 11% of GISTs. The imaging features on a contrast-enhanced computed tomography examination, surgery and histopathology of a rare case of a sporadic multifocal small bowel GISTs in an emergency setting are described. This case highlights how GISTs appearances on an imaging computed tomography may vary. Radiologists c ...[more]

PMID: 31193951

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Project description:BACKGROUND:Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal neoplasm of the gastrointestinal tract. Mutations of KIT and platelet-derived growth factor receptor alpha have been well characterized in GISTs. Patients with KIT mutations are generally sensitive to treatment with tyrosine kinase inhibitors. However, some patients with GIST, while initially sensitive to TKIs, gain resistance in later stages of treatment. Heterologous rhabdomyomsarcomatous dedifferentiation of advanced GISTs after long-term imatinib mesylate (IM) therapy has been reported. In these cases, the underlying molecular mechanism of tumor progression and transformation is unclear. CASE PRESENTATION:We report one such patient with rhabdomyosarcomatous dedifferentiation of a GIST without metastatic disease after brief 3-month therapy with IM. The tumor was composed of two distinct phenotypes, a CD117 negative region with rhabdomyosarcomatous differentiation directly adjacent to a CD117 positive classic GIST region. Molecular analysis identified the activating KIT exon 11 mutation in both regions, indicating a common origin for both phenotypes. Additionally, the dedifferentiated component contained two synonymous variants in platelet-derived growth factor receptor alpha and KIT. The increased number of synonymous variants in the rhabdomyosarcomatous region may reflect increased genetic instability of this tumor that may have resulted in the loss of CD117 expression in the dedifferentiated component. CONCLUSION:This study adds to the growing consensus that rhabdomyosarcomatous GIST progresses from a common GIST primary tumor. The role of IM in this progression is uncertain; however short duration of IM treatment in this study supports the hypothesis that rhabdomyosarcomatous GIST progression is not a consequence of IM therapy. Furthermore, we provide additional information supporting the observation that CD117 negative rhabdomyosarcomatous transformation maintains the activating KIT variant without KIT expression.

Dataset Information

Multifocal gastrointestinal stromal tumor: A case report with CT, surgical, and histopathologic correlation.

Publications

Multifocal gastrointestinal stromal tumor: A case report with CT, surgical, and histopathologic correlation.

Similar Datasets

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