title: A rare coincidence of different types of driver mutations among uterine leiomyomas (UL).
abstract: Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely coexist in different UL tumors of one patient. Here we describe a patient who underwent hysterectomy because of multiple leiomyomas which were studied by cytogenetics, MED12 hotspot sequencing, and copy number variation arrays. Two of the UL tumors had different HMGA2 rearrangements not detected by G-banding. Two UL tumors had deletions of the long arm of chromosome 3, in one case associated with a MED12 mutation. Both deletions lead to the loss of MED12L showing strong similarity with MED12. It remains to be determined if this gene can play a role in leiomyomagenesis independent of MED12. In summary, the patient presented exhibits an unusual coincidence of different driver mutations among her leiomyomas.
authors.affiliation: Institute of Medical Genetics, University Rostock Medical Center, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Holzmann
authors.affiliation: Center of Human Genetics, University of Bremen, Leobener Strasse ZHG, D-28359 Bremen, Germany.
authors.forename: Dominique Nadine
authors.initials: DN
authors.lastname: Markowski
authors.affiliation: Center of Human Genetics, University of Bremen, Leobener Strasse ZHG, D-28359 Bremen, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Bartnitzke
authors.affiliation: Institute of Immunology, University of Rostock, University Rostock Medical Center, Schillingallee 70, D-18057 Rostock, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Koczan
authors.affiliation: Institute of Pathology, University of Heidelberg, Heidelberg, Germany ; Present address: Institute of Pathology, Elbe Kliniken, Klinikum Stade, Bremervörder Str. 111, D- 21682 Stade, Germany.
authors.forename: Burkhard Maria
authors.initials: BM
authors.lastname: Helmke
authors.affiliation: Institute of Medical Genetics, University Rostock Medical Center, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany ; Center of Human Genetics, University of Bremen, Leobener Strasse ZHG, D-28359 Bremen, Germany.
authors.forename: Jörn
authors.initials: J
authors.lastname: Bullerdiek
keywords: Genetic types; HMGA2; MED12; MED12L; Uterine leiomyoma