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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.   Electronic supplementary material  The online version of this article (doi:10.1186/s13039-015-0177-9) contains supplementary material, which is available to authorized users.

A rare coincidence of different types of driver mutations among uterine leiomyomas (UL)