Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
| Autor: | Sommer LL; Division of Dermatology, Cooper Medical School of Rowan University, Camden, New Jersey, USA., Schnur RE; Division of Genetics, Cooper Medical School of Rowan University, Camden, New Jersey, USA., Heymann WR; Division of Dermatology, Cooper Medical School of Rowan University, Camden, New Jersey, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of dermatological case reports [J Dermatol Case Rep] 2016 Nov 30; Vol. 10 (3), pp. 53-55. Date of Electronic Publication: 2016 Nov 30 (Print Publication: 2016). |
| DOI: | 10.3315/jdcr.2016.1234 |
| Abstrakt: | Background: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported. Main Observations: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC. Conclusions: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions. However this observation has implications for careful and routine skin surveillance in patients with HLRCC for lesions other than cutaneous leiomyomata. |
| Databáze: | MEDLINE |
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