Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus

Autor:	Heidet L, Boye E, Cai Y, Sado Y, Zhang X, Jf, Fléjou, Fékété F, Ninomiya Y, Mc, Gubler, Corinne ANTIGNAC
Předmět:	Male Esophageal Neoplasms Leiomyoma Muscle Smooth DNA Neoplasm Immunohistochemistry female genital diseases and pregnancy complications Basement Membrane Electrophoresis Gel Pulsed-Field Humans Female Collagen Child Gene Deletion Research Article
Zdroj:	Europe PubMed Central CIÊNCIAVITAE
Popis:	Leiomyomata of the esophagus are sporadic benign tumors of unknown etiology. We studied a collection of nine tumors for the expression of extracellular matrix components and found the same aberrant expression pattern as previously observed in inherited diffuse leiomyomatosis. We demonstrate here the occurrence of a somatic deletion at the COL4A5/COL4A6 locus at Xq22 in a frozen leiomyoma sample. These data confirm the hypothesis that the same underlying etiology is responsible for circumscribed smooth muscle proliferation in sporadic leiomyomata as for diffuse smooth muscle cell proliferation in inherited diffuse leiomyomatosis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::36db866f27269eb1bfd7633e910a59a5 http://europepmc.org/abstract/med/9502408 Zobrazit plný text záznamu