Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman

• DOI: 10.1186/s13000-019-0809-1
• Publication Date: 2019-04-26T11:05:14Z
• Authors: Alessandra J. Ain...; Nooshin K. Dashti; Taofic Mounajjed; Karen J. Fritchie; Jaime Davila; Rohini Mopuri; Rory A. Jackson; Kevin C. Halling; Jamie N. Bakkum-G...; J. Kenneth School...
• Keywords: Uterine Leiomyoma; Uterine sarcoma

Uterine leiomyomas, in contrast to sarcomas, tend cease growth following menopause. In the setting of a rapidly enlarging uterine mass postmenopausal patient, clinical distinction leiomyoma from sarcoma is difficult and requires pathologic examination. A 74-year-old woman presented with bleeding acute blood loss requiring transfusion. She was found have clinically suspicious for sarcoma. An abdominal hysterectomy bilateral salpingo-oophorectomy were performed. 15.5 cm partially necrotic intramural identified corpus. The tumor classified as cellular leiomyoma. RNA sequencing KAT6B-KANSL1 fusion that confirmed by RT-PCR Sanger sequencing. After 6 months follow-up, patient remains asymptomatic without evidence disease. Prior studies leiomyomas KAT6B (previously MORF) rearrangements but this case first identify gene While alterations MED12 HMGA2 are most common range other genetic pathways been described. Our contributes evolving molecular landscape leiomyomas.