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Article

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.

BMC medical genomics - 27 May 2024

Liu Cassie, Lele Subodh M, Goodenberger Martin H, Reiser Gwendolyn M, Christiansen Andrew J, Padussis James C

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic...

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Identifiers

PMID: 38802873
DOI: 10.1186/s12920-024-01913-8
PMCID: PMC11129476

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