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Article

Chromosome 16 Loss of Heterozygosity in Tuberous Sclerosis and Sporadic Lymphangiomyomatosis

1 Oct 2001

Abstract excerpt

In previous work we found loss of heterozygosity (LOH) of the wild-type TSC2 allele in the abnormal pulmonary smooth muscle cells and renal angiomyolipoma cells from patients with sporadic pulmonary lymphangiomyomatosis (LAM). Here we report TSC2 LOH in microdissected pulmonary LAM cells from a patient with tuberous sclerosis complex (TSC), demonstrating for the first time that the two-hit tumor suppressor gene...

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Identifiers

PMID: 11704609
DOI: 10.1164/ajrccm.164.8.2104095

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

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Chromosome 16 Loss of Heterozygosity in Tuberous Sclerosis and Sporadic LymphangiomyomatosisPMID 11704609Read ↗

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.Semantic proximity Read ↗

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.Semantic proximity Read ↗

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

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.Semantic proximity Read ↗

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Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.Semantic proximity Read ↗

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