Abstract
53410 Retrospective Review of Clinicopathological Findings of Hereditary Leiomyomatosis and Renal Cell Cancer and Evaluation of FH/2SC Staining for Genetic Referral
Journal of the American Academy of Dermatology, Vol.91(3 Supplement), pp.AB300-AB300
09/2024
DOI: 10.1016/j.jaad.2024.07.1193
Abstract
Introduction: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a genetic condition characterized by uterine leiomyomas, piloleiomyomas, and aggressive renal cell carcinoma (RCC). At a tertiary academic center, we identified clinical and histopathologic findings in HLRCC families and assessed the utility of fumarate hydratase (FH) and 2-succinocysteine (2SC) immunohistochemistry (IHC) on piloleiomyomas as a prelude to genetic referral.
Methods: We reviewed 29 probands who met major clinical criteria for HLRCC or had a FH germline mutation. HLRCC positive family members were included if records were available. Thirty-nine individual records were reviewed (4-75 years). FH germline mutations were documented in 28 individuals. A separate search of institutional pathology archives identified 64 piloleiomyomas from 41 patients between 1995 to 2023 on which FH/2SC IHC was performed.
Results: First or second-degree relatives with RCC were reported in 18% (5/29) of families. Piloleiomyomas were present in 94% (16/17) of women and 63% (12/19) of men over age 10. Uterine leiomyomas were present in 88% (15/17) of women over age 10 and 76% underwent hysterectomy or myomectomy. From our institutional pathology archive, FH-deficiency/2SC-positivity was found in 41/64 piloleiomyomas. FH-loss and positive 2SC staining was demonstrated in 100% (12/12) of piloleiomyomas from individuals with multiple piloleiomyomas. Notably, six solitary piloleiomyomas from six individuals with unknown HLRCC status were FH-deficient by IHC.
Conclusion: Our study highlights the role of FH and 2SC immunohistochemistry in diagnosing FH-deficient piloleiomyomas, which may aid large tertiary centers in facilitating timely genetic referrals for HLRCC.
Details
- Title: Subtitle
- 53410 Retrospective Review of Clinicopathological Findings of Hereditary Leiomyomatosis and Renal Cell Cancer and Evaluation of FH/2SC Staining for Genetic Referral
- Creators
- Smrithi Mani - University of Iowa Carver College of MedicineDean Elhag - University of IowaRob Humble - University of Iowa Pathology DepartmentAndrew Bellizzi - University of IowaYousef Zakharia - University of IowaVincent Liu - University of Iowa
- Resource Type
- Abstract
- Publication Details
- Journal of the American Academy of Dermatology, Vol.91(3 Supplement), pp.AB300-AB300
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.jaad.2024.07.1193
- ISSN
- 0190-9622
- Language
- English
- Date published
- 09/2024
- Academic Unit
- Pathology; Hematology, Oncology, and Blood & Marrow Transplantation; Dermatology; Internal Medicine
- Record Identifier
- 9984699050402771
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