Hereditary leiomyomatosis syndrome and Renal Cell cancer, case report and literature review
DOI:
https://doi.org/10.48193/s3vh5q95Keywords:
Hereditary renal cell cancer syndrome , Fumarate hydratase, Leiomyoma, HLRCC, Reed syndromeAbstract
Clinical case description: this is the case of a 30-year-old woman with a surgical history of diagnostic laparoscopy for acute abdominal pain, which revealed a strangulated uterine fibroid. A CT scan showed a left renal tumor, which was monitored for 2 years, during which volume increase was identified. A left radical laparoscopic nephrectomy was performed, revealing renal cell carcinoma with fumarate hydratase deficiency in immunohistochemistry (IHC). A follow-up PET CT showed a suspicious pulmonary lesion, which was later treated with metastasectomy.
Relevance: hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare condition that increases the risk of renal cancer, among other conditions.
Clinical implications: this syndrome is caused by a germline mutation in the fumarate hydratase gene, which alters fumarate metabolism, destabilizes cellular metabolism, and deregulates cell growth. This leads to cutaneous and uterine manifestations and increases the risk of renal cancer.
Conclusions: although rare, HLRCC is associated with significant morbidity due to cutaneous and uterine alterations, as well as aggressive renal cancer. Close monitoring and a radical approach to suspicious renal lesions are required.
References
Patel VM, Handler MZ, Schwartz RA, Lambert WC. Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. Journal of the American Academy of Dermatology. 2017;77(1): 149–158. https://doi.org/10.1016/j.jaad.2017.01.023.
Shero N, Yoon E, Cardenas Goicoechea J. Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in a young patient presenting with a large uterus: A case report and review of the literature. Case Reports in Women’s Health. 2023;39: e00548. https://doi.org/10.1016/j.crwh.2023.e00548.
Ooi A. Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. Seminars in Cancer Biology. 2020;61: 158–166. https://doi.org/10.1016/j.semcancer.2019.10.016.
Arenas-Guzmán R. Síndrome de Stevens-Johnson. In: Dermatología. Atlas, diagnóstico y tratamiento,. 6th edn McGraw Hill; 2015.
Chayed Z, Kristensen LK, Ousager LB, Rønlund K, Bygum A. Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. Orphanet Journal of Rare Diseases. 2021;16(1): 34. https://doi.org/10.1186/s13023-020-01653-9.
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Familial Cancer. 2014;13(4): 637–644. https://doi.org/10.1007/s10689-014-9735-2.
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, et al. New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia. Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 2021;34(7): 1392–1424. https://doi.org/10.1038/s41379-021-00779-w.
Schmidt LS, Linehan WM. Hereditary leiomyomatosis and renal cell carcinoma. International Journal of Nephrology and Renovascular Disease. 2014;7: 253–260. https://doi.org/10.2147/IJNRD.S42097.
Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, et al. Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals. European Urology Oncology. 2020;3(6): 764–772. https://doi.org/10.1016/j.euo.2019.11.002.
Chen YB, Brannon AR, Toubaji A, Dudas ME, Won HH, Al-Ahmadie HA, et al. Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. The American Journal of Surgical Pathology. 2014;38(5): 627–637. https://doi.org/10.1097/PAS.0000000000000163.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Revista Mexicana de Urología
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
