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Article

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

PLoS genetics - 1 Aug 2016

Giannikou Krinio, Malinowska Izabela A, Pugh Trevor J, Yan Rachel, Tseng Yuen-Yi, Oh Coyin, Kim Jaegil, Tyburczy Magdalena E, Chekaluk Yvonne, Liu Yang, Alesi Nicola, Finlay Geraldine A, Wu Chin-Lee, Signoretti Sabina, Meyerson Matthew, Getz Gad, Boehm Jesse S, Henske Elizabeth P, Kwiatkowski David J

Abstract excerpt

Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. Though histologically benign, renal angiomyolipoma can cause life-threatening hemorrhage and kidney failure. Both angiomyolipoma and LAM have mutations in TSC2 or TSC1. However, the frequency and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27494029
DOI: 10.1371/journal.pgen.1006242
PMCID: PMC4975391

Genes

TSC2
TSC1
ARHGAP35
BAP1
SPEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.PMID 27494029Read ↗

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