Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

lymphangioleiomyomatosis_somatic

In contrast to hereditary lymphangioleiomyomatosis the somatic form is sporadic and caused by mutations hat develop after fertilization and therefore usually are not hereditary. Symptoms consist of dyspnea, pneumothorax and chylothorax. The mutation may be detected in the TSC2 gene in tissue samples and sometimes also in blood.

Systematic

Lymphangiomyomatosis
TSC1
TSC2
lymphangioleiomyomatosis_somatic
TSC2

References:

1.

Castro M et al. (1995) Pulmonary tuberous sclerosis.

external link
2.

Smolarek TA et al. (1998) Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

external link
3.

Urban T et al. (1999) Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

external link
4.

Astrinidis A et al. (2000) Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.

external link
5.

Carsillo T et al. (2000) Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

external link
6.

Sato T et al. (2002) Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

external link
7.

Karbowniczek M et al. (2003) Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism.

external link
8.

Taylor JR et al. (1990) Lymphangioleiomyomatosis. Clinical course in 32 patients.

external link
9.

Torres VE et al. (1995) Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex.

external link
10.

Johnson SF et al. (1993) Lymphangioleiomyomatosis.

external link
11.

Boehler A et al. (1996) Lung transplantation for lymphangioleiomyomatosis.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits