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A rare case of renal gastrointestinal stromal tumor.

ABSTRACT: Renal cell carcinoma (RCC) accounts for about 3% of adult cancers. RCC is the third most common cancer among the urogenital cancers, clear-cell RCC being the most common histological subtype. Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and are derived from interstitial Cajal cells (ICCs). The ICCs in the urinary system were first shown in 2003 in a study by Solari et al. However, there is no publication of a GIST of renal origin yet. Here we report a case of renal GIST that has not previously been published in the literature.

SUBMITTER: Karlidag I

PROVIDER: S-EPMC6562833 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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A rare case of renal gastrointestinal stromal tumor.

Karlidag Ismail I Ozbay Engin E Colakerol Aykut A Dizibuyuk Omer Faruk OF Yenigurbuz Serkan S Ozyuvali Ekrem E

Urology case reports 20190327

Renal cell carcinoma (RCC) accounts for about 3% of adult cancers. RCC is the third most common cancer among the urogenital cancers, clear-cell RCC being the most common histological subtype. Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and are derived from interstitial Cajal cells (ICCs). The ICCs in the urinary system were first shown in 2003 in a study by Solari et al. However, there is no publication of a GIST of renal origin ye ...[more]

PMID: 31211090

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Project description:BackgroundGastrointestinal 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 presentationWe 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.ConclusionThis 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

A rare case of renal gastrointestinal stromal tumor.

Publications

A rare case of renal gastrointestinal stromal tumor.

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