title: Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.
abstract: 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.
authors.affiliation: INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Heidet
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: Y
authors.initials: Y
authors.lastname: Cai
authors.forename: Y
authors.initials: Y
authors.lastname: Sado
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: J F
authors.initials: JF
authors.lastname: Fléjou
authors.forename: F
authors.initials: F
authors.lastname: Fékété
authors.forename: Y
authors.initials: Y
authors.lastname: Ninomiya
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D001485:Basement Membrane / Q000378:metabolism / Q000473:pathology; D002648:Child; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004273:DNA, Neoplasm / Q000032:analysis; D016521:Electrophoresis, Gel, Pulsed-Field; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D007889:Leiomyoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009130:Muscle, Smooth / Q000378:metabolism / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; D003094:Collagen