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Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma – A Case Report

Abstract

Introduction:
Renal angiomyolipomas (AMLs) are rare tumors categorized within the perivascular epithelioid cell tumor (PEComa) family, most of which are benign, except for epithelioid AMLs (EAML) with malignant potential. EAML develops sporadically or as part of the tuberous sclerosis complex (TSC), where mutations of the TSC1/2 genes result in increased activation of the mammalian target of the rapamycin (mTOR) signaling pathway.

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