Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer

Authors

  • Sadhanna Badeloe MD,

    1. From the Departments of Dermatology and Pathology, Maastricht University Center for Molecular Dermatology (MUCMD), and GROW-School for Oncology and Developmental Biology, University Medical Center Maastricht, and Department of Dermatology, Jeroen Bosch Hospital, Den Bosch, the Netherlands
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  • Adrienne J. Van Geest MD,

    1. From the Departments of Dermatology and Pathology, Maastricht University Center for Molecular Dermatology (MUCMD), and GROW-School for Oncology and Developmental Biology, University Medical Center Maastricht, and Department of Dermatology, Jeroen Bosch Hospital, Den Bosch, the Netherlands
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  • Ariënne M. W. Van Marion MD, PhD,

    1. From the Departments of Dermatology and Pathology, Maastricht University Center for Molecular Dermatology (MUCMD), and GROW-School for Oncology and Developmental Biology, University Medical Center Maastricht, and Department of Dermatology, Jeroen Bosch Hospital, Den Bosch, the Netherlands
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  • Jorge Frank MD, PhD

    1. From the Departments of Dermatology and Pathology, Maastricht University Center for Molecular Dermatology (MUCMD), and GROW-School for Oncology and Developmental Biology, University Medical Center Maastricht, and Department of Dermatology, Jeroen Bosch Hospital, Den Bosch, the Netherlands
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Sadhanna Badeloe, MD Maastricht University Center for Molecular Dermatology (MUCMD) Department of Dermatology University Medical Center Maastricht P. Debyelaan 25; Postbus 5800 6202 AZ Maastricht the Netherlands E-mail: sbad@sder.azm.nl

Abstract

A 41-year-old man was diagnosed with a cutaneous leiomyosarcoma on the left shoulder. Family history revealed that his brother had died of a metastatic kidney tumor at young age. Although apparently rare, the familial occurrence of cutaneous leiomyosarcoma with renal cancer has been described in the context of hereditary cutaneous leiomyomatosis and renal cell cancer (HLRCC). This rare genetic syndrome is caused by heterozygous mutations in the fumarate hydratase (FH) gene. Hence, the manifestation of these two rare malignancies within one family was strongly suggestive of a common underlying genetic defect. However, mutation analysis in the FH gene excluded HLRCC in this family. Although the familial occurrence of these rare tumors might be coincidental, it cannot be ruled out that, beside FH, mutations in another as yet unknown gene could give rise to both leiomyosarcoma and kidney cancer.

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