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Case Reports
. 2001 Sep;159(3):825-9.
doi: 10.1016/S0002-9440(10)61757-9.

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

M Kiuru  1 , V Launonen, M Hietala, K Aittomäki, O Vierimaa, R Salovaara, J Arola, E Pukkala, P Sistonen, R Herva, L A Aaltonen
Affiliations
Case Reports

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

M Kiuru et al. Am J Pathol. 2001 Sep.

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.

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Figures

Figure 1.
Figure 1.
Pedigree of the multiple cutaneous leiomyomatosis kindred studied. For reasons of confidentiality, haplotypes of the unaffected individuals are not shown. One healthy individual had the disease-associated haplotype. The observed recombinations fine map the interval containing the disease locus as reported by Launonen and colleagues (between D1S517 and D1S404; black bar depicts the shared region in the current family).
Figure 2.
Figure 2.
LOH analysis of seven cutaneous leiomyomas with markers D1S547 and D1S423. N depicts the normal tissue (blood) DNA-derived germline alleles. All seven lesions displayed LOH (arrow depicts the lost allele) at both loci, as well as D1S517 (not shown).
Figure 3.
Figure 3.
Histopathology of the kidney cancer of individual II-4, showing typical HLRCC features. A: Papillary structure of the renal cancer (H&E; original magnification, ×100). B: Characteristic cytology with prominent eosinophilic nucleoli. Single apoptotic cell are visible (H&E; original magnification, ×400).
See this image and copyright information in PMC

References

    1. Virchow R: Uber Makroglossie und pathologische Neubildung quergestreifter Muskelfasern. Virchows Arch Pathol Anat 1854, 7:126-138
    1. Sonck CE: Myomatosis cutis miliaris: report of a case. Acta Dermatol Venereol 1951, 31:297-303 - PubMed
    1. Kloepfer HW, Krafchuk J, Derbes V, Burks J: Hereditary multiple leiomyoma of the skin. Am J Hum Genet 1958, 10:48-52 - PMC - PubMed
    1. Mezzadra G: Leiomioma cutaneo multiplo ereditario. Studio di un caso sistematizzato in soggetto maschile appartenente a famiglia portatrice di leiomiomatosi cutanea e fibromiomatosi uterina. Minerva Derm 1965, 40:388-393 - PubMed
    1. Reed WB, Walker R, Horowitz R: Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venerol 1973, 53:409-416 - PubMed

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