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Article

Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.

American journal of respiratory and critical care medicine - 1 Dec 2010

Cai Xiong, Pacheco-Rodriguez Gustavo, Fan Qing-Yuan, Haughey Mary, Samsel Leigh, El-Chemaly Souheil, Wu Hai-Ping, McCoy J Philip, Steagall Wendy K, Lin Jing-Ping, Darling Thomas N, Moss Joel

Abstract excerpt

RATIONALE: Lymphangioleiomyomatosis (LAM), occurring sporadically (S-LAM) or in patients with tuberous sclerosis complex (TSC), results from abnormal proliferation of LAM cells exhibiting mutations or loss of heterozygosity (LOH) of the TSC genes, TSC1 or TSC2. OBJECTIVES: To identify molecular markers useful for isolating LAM cells from body fluids and determine the frequency of TSC1 or TSC2 LOH. METHODS:...

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Identifiers

PMID: 20639436
DOI: 10.1164/rccm.201003-0489OC
PMCID: PMC3029931

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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