Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.

FH

Fumarate hydratase (FH) deficiency: abnormal FH and/or 2SC immunohistochemical staining in more than 85% of leiomyomas

This scoping review synthesises published data on uterine leiomyomas associated with HLRCC, a cancer predisposition syndrome in which they often precede the diagnosis of renal cancer. MEDLINE, Embase, Scopus, Web of Science and ClinicalTrials.gov were searched, and individual patient data from 410 patients plus aggregate data from 27 observational studies were included. The reported leiomyomas occur early (mean age at diagnosis 32.4 years), are multiple (89.1%) and symptomatic (88.1%), and surgery was required in 94.4% of patients, most often hysterectomy (67.0%, at a mean age of 35.2 years). Despite a suggestive family history in 88.8% of patients, only 0.6% had germline FH testing before the gynaecological diagnosis. The authors propose combining age, multiplicity, symptoms, family history and pathology-triggered FH/2SC immunohistochemistry to enable earlier germline testing, renal surveillance and reproductive counselling.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The figure of 0.6% germline FH testing before the gynaecological diagnosis sums up the diagnostic delay: in a young woman operated on for multiple leiomyomas, FH/2SC immunohistochemistry is a simple entry point to genetic counselling and renal surveillance. The synthesis relies on heterogeneous observational series, with no registered protocol mentioned in the abstract, and fertility data as well as leiomyosarcoma risk remain, as the authors acknowledge, insufficient.

Analysis by Dr Thibaut Benquey