Data from Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata

• DOI: 10.1158/1940-6207.c.7213827.v1
• Publication Date: 2024-05-02T07:47:29Z
• Authors: Lindsay M. Kipnis; Katelyn M. Breen; Diane R. Koeller; Alison Schwartz L...; Zelei Yang; Hyeji Jun; Nabihah Tayob; Samantha M. Stokes; Connor P. Hayes; Arezou A. Ghazani; Sarah J. Hill; Huma Q. Rana
• Keywords: Fumarase

<div>Abstract<p>Women with germline pathogenic variants (PV) in the <i>fumarate hydratase</i> (<i>FH</i>) gene develop cutaneous and uterine leiomyomata have an increased risk of developing aggressive renal cell carcinomas. Many these women are unaware their cancer predisposition until atypical leiomyoma is diagnosed during a myomectomy or hysterectomy, making streamlined genetic counseling process after pathology-based diagnosis critical. However, prevalence pathogenic/likely PVs <i>FH</i> among cases unknown. To better understand PV current patterns testing, we undertook retrospective review at single large center. We compared clinical characteristics between PV, wild-type (WT), unknown testing cohorts. Of 144 evaluable data, only 49 (34%) had documented test results, 12 (8.3%) PV. There were 48 IHC-defined <i>FH</i>-deficient cases, which 41 (85%) nine representing 22% tested cohort 18.8% cohort. Germline present 8.3% patients, 24.5% that completed testing. These data highlight disconnect pathology counseling, help to refine estimates can be used when patients leiomyomata.</p>Prevention Relevance:<p>Women (<i>FH</i>)-deficient cancer. This work suggests more standardized pathology-genetic referral pathway for research on underlying causes absence needed.</p></div>