Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

Maija Ht Kiuru, Virpi Launonen, Marja Hietala, Kristiina Aittomäki, Outi Vierimaa, Reijo Salovaara, Johanna Arola, Eero Pukkala, Pertti Sistonen, Riitta Herva, Lauri A. Aaltonen

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159 Scopus citations

Abstract

Little has been known about the molecular background of familial multiple cutaneous leiomyomatosis (MCL). We report here a clinical, histopathological, and molecular study of a multiple cutaneous leiomyomatosis kindred with seven affected members. This detailed study revealed strong features of a recently described cancer predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). The family was compatible with linkage to the HLRCC locus in 1q. Also, all seven cutaneous leiomyomas derived from the proband and analyzed for loss of heterozygosity displayed loss of the wild-type allele, confirming the association with a susceptibility gene in chromosome 1q. One individual had had renal cell cancer at the age of 35 years. This tumor displayed a rare papillary histopathology, which appears to be characteristic for HLRCC. The derived linkage, loss of heterozygosity, and clinical data suggest that MCL and HLRCC are a single disease with a variable phenotype. The possibility that members of leiomyomatosis families are predisposed to renal cell cancer should be taken into account.

Original languageEnglish (US)
Pages (from-to)825-829
Number of pages5
JournalAmerican Journal of Pathology
Volume159
Issue number3
StatePublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Kiuru, M. H., Launonen, V., Hietala, M., Aittomäki, K., Vierimaa, O., Salovaara, R., Arola, J., Pukkala, E., Sistonen, P., Herva, R., & Aaltonen, L. A. (2001). Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. American Journal of Pathology, 159(3), 825-829.