Study Finds HMGA2 is a Disease Driver in Hydropic Leiomyoma

BACKGROUND

Uterine leiomyoma (ULM) is the most common benign tumor of the female reproductive system, occurring in up to 70% of pre-menopausal women. Hydropic leiomyoma (HLM) is a poorly understood ULM subtype; it lacks typical ULM morphology, has unclear genetics, and is only sparingly documented in the literature.

THE STUDY

A study out of Northwestern University - Hydropic leiomyoma: a distinct variant of leiomyoma closely related to HMGA2 overexpression – saw this gap in data and went on to conduct the largest HLM series study to date. They pulled leiomyoma cases suspect for HLM from NU’s database. Histological, immunohistochemical, and genetic analyses (including detection of HMGA2 rearrangements using Empire Genomics' HMGA2 break apart probe) were then performed on the tumors, and compared alongside each patient’s medical history.

TAKEAWAY

HMGA2 was found rearranged in 32% of samples. Tumors with HMGA2 overexpression had high pAKT levels and increased Ki-67 proliferation index, proving HMGA2 is heavily involved in AKT pathway signaling. As HLM displays a complex morphology and heavy disease burden not found in typical ULM, the team concluded that HMGA2 overexpression is a disease-driver in this unique subtype.