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Article

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

The journal of pathology. Clinical research - 1 Jul 2018

Bah Ismaël, Fahiminiya Somayyeh, Bégin Louis R, Hamel Nancy, D'Agostino Maria D, Tanguay Simon, Foulkes William D

Abstract excerpt

We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin macules, and absence of neurological anomalies. In the index case and three relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29659200
DOI: 10.1002/cjp2.104
PMCID: PMC6065116

Genes

TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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