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Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome

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Abstract

FH Tumour Predisposition Syndrome, also known as Hereditary Leiomyomatosis and renal cell cancer (HLRCC), or Reed Syndrome, is an autosomal dominant condition clinically characterized by multiple cutaneous leiomyomas, multiple early-onset uterine leiomyomas and early-onset renal cell cancer. Here we report a young female with FH Tumour Predisposition Syndrome with no clinical features except early-onset uterine leiomyomas. Whilst there is a significant history of uterine leiomyomas in her family, there is no history of cutaneous leiomyomas or renal cell cancer (RCC). Uterine leiomyomatosis in young adults may represent a narrow phenotypic variant of FH Tumour Predisposition Syndrome. It is important that young women who present with multiple leiomyomata or leiomyomata with atypical features are referred for molecular genetic testing.

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Author information

Authors and Affiliations

  1. Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, UK

    Tiffany Foo & Terri P. McVeigh

  2. Department of Gynaecological Oncology, The Royal Marsden NHS Foundation Trust, London, UK

    Tiffany Foo

  3. Department of Gynaecological Oncology, Croydon University Hospital, Croydon, UK

    Vivek Nama

  4. Department of Histopathology, The Royal Marsden NHS Foundation Trust, London, UK

    Ayoma D. Attygalle

  5. Department of Histopathology, St George’s University Hospitals NHS Foundation Trust, London, UK

    Jonathan Williams

  6. Department of Dermatology, The Royal Marsden NHS Foundation Trust, London, UK

    Kara Heelan

  7. Molecular Genetics, West Midlands Regional Laboratory, Birmingham, UK

    Samantha Butler

  8. Institute of Cancer Research, London, UK

    Terri P. McVeigh

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  1. Tiffany Foo
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Correspondence to Tiffany Foo.

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Foo, T., Nama, V., Attygalle, A.D. et al. Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome. Familial Cancer 21, 357–362 (2022). https://doi.org/10.1007/s10689-021-00272-y

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