AUTHOR=Jamaluddin M. Fairuz B. , Nagendra Prathima B. , Ko Yi-An , Bajwa Preety , Scott Rodney J. , Nahar Pravin , Tanwar Pradeep S. 

TITLE=Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women

JOURNAL=Frontiers in Reproductive Health

VOLUME=5

YEAR=2023

URL=https://www.frontiersin.org/journals/reproductive-health/articles/10.3389/frph.2023.1081092

DOI=10.3389/frph.2023.1081092

ISSN=2673-3153

ABSTRACT=<p>Uterine fibroids are exceedingly common benign tumours of the female reproductive system and cause severe symptoms, including acute pain, bleeding, and infertility. Fibroids are frequently associated with genetic alterations affecting mediator complex subunit 12 (<italic>MED12</italic>), fumarate hydratase (<italic>FH</italic>), high mobility group AT-hook 2 (<italic>HMGA2</italic>) and collagen, type IV alpha 5 and alpha 6 (<italic>COL4A5-COL4A6</italic>). Recently, we reported <italic>MED12</italic> exon 2 mutations in 39 out of 65 uterine fibroids (60%) from 14 Australian patients. The aim of this study was to evaluate the status of <italic>FH</italic> mutations in <italic>MED12</italic> mutation-positive and mutation-negative uterine fibroids. <italic>FH</italic> mutation screening of altogether 65 uterine fibroids and corresponding adjacent normal myometrium (<italic>n</italic> = 14) was carried out by Sanger sequencing. Three out of 14 patients displayed somatic mutations in <italic>FH</italic> exon 1 in addition to harbouring <italic>MED12</italic> mutation in uterine fibroids. This study is the first to report that the mutations in <italic>MED12</italic> and <italic>FH</italic> co-exist in uterine fibroids of Australian women.</p>