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Calcifying nested stromal-epithelial tumor of the liver: Case report of a rare primary liver tumor.

ABSTRACT: Calcifying nested stromal epithelial tumor is a very rare primary liver tumor in children. To our knowledge, few cases have been reported in literature. We describe the imaging appearance and histopathologic features of this tumor incidentally detected in a 2-year-old girl. This tumor should be considered in the differential when a large heterogeneous liver tumor with central scar and coarse/chunky calcifications is identified at imaging in the absence of elevated alpha-fetoprotein in a child.

SUBMITTER: Runyan C

PROVIDER: S-EPMC8258647 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Calcifying nested stromal-epithelial tumor of the liver: Case report of a rare primary liver tumor.

Runyan Charles C Patel Mittun M Youssfi Mostafa M Taylor Steve S Biyyam Deepa D

Radiology case reports 20210630 9

Calcifying nested stromal epithelial tumor is a very rare primary liver tumor in children. To our knowledge, few cases have been reported in literature. We describe the imaging appearance and histopathologic features of this tumor incidentally detected in a 2-year-old girl. This tumor should be considered in the differential when a large heterogeneous liver tumor with central scar and coarse/chunky calcifications is identified at imaging in the absence of elevated alpha-fetoprotein in a child. ...[more]

PMID: 34306277

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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

Calcifying nested stromal-epithelial tumor of the liver: Case report of a rare primary liver tumor.

Publications

Calcifying nested stromal-epithelial tumor of the liver: Case report of a rare primary liver tumor.

Similar Datasets

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