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MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors
Author(s) -
Markowski Dominique Nadine,
Huhle Sonja,
Nimzyk Rolf,
Stenman Göran,
Löning Thomas,
Bullerdiek Jörn
Publication year - 2013
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22029
Subject(s) - leiomyoma , smooth muscle tumor , smooth muscle , uterine leiomyoma , leiomyosarcoma , pathology , biology , medicine , endocrinology
Mutations of the mediator subcomplex 12 gene ( MED12 ) recently have been described in a large group of uterine leiomyomas (UL) but only in a single malignant uterine smooth muscle tumor. To further address the occurrence of fibroid‐type MED12 mutations in smooth muscle tumors, we have analyzed samples from 34 leiomyosarcomas (LMS), 21 UL, two extrauterine leiomyomas (EL), and 10 canine genital leiomyomas for the presence of MED12 mutations of the UL‐type. Interestingly, besides UL MED12 mutations were found in one uterine LMS, one EL, and two canine vaginal leiomyomas. The results confirm the occurrence of fibroid‐type MED12 mutations in malignant uterine smooth muscle tumors thus suggesting a rare but existing leiomyoma‐LMS sequence. In addition, for the first time MED12 mutations are reported in smooth muscle tumors in a non‐primate mammalian species. © 2012 Wiley Periodicals, Inc.