Miika Mehine

TL;DR: It is determined that MED12 is altered in 70% (159 of 225) of tumors from a total of 80 patients, and aberrant function of this region of MED12 contributes to tumorigenesis.

TL;DR: Chromosome shattering and reassembly resembling chromothripsis is a major cause of chromosomal abnormalities in uterine leiomyomas and it is proposed that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events.

TL;DR: Transcriptional differences among leiomyomas harboring different genetic drivers, including high mobility group AT-hook 2 (HMGA2) rearrangements, mediator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and collagen, type IV, alpha 5 andcollagen, typeIV, alpha 6 deletions are explored.

TL;DR: The findings derived from high-throughput sequencing combined with previous knowledge have led to an emerging molecular classification of leiomyomas, suggesting that there are several distinct pathogenic pathways involved inLeiomyoma formation.

TL;DR: Somatic MED12 exon 2 mutations were observed in uterine leiomyosarcomas, suggesting that a subgroup of these malignant tumours may develop from a leioma precursor.