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. 2022 Jul;21(3):357-362.
doi: 10.1007/s10689-021-00272-y. Epub 2021 Sep 14.

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

Tiffany Foo  1   2 , Vivek Nama  3 , Ayoma D Attygalle  4 , Jonathan Williams  5 , Kara Heelan  6 , Samantha Butler  7 , Terri P McVeigh  8   9
Affiliations

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

Tiffany Foo et al. Fam Cancer. 2022 Jul.

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.

Keywords: AYA; Cancer; FH tumour predisposition syndrome; Genetics; Hereditary leiomyomatosis and renal cell cancer (HLRCC); Reed syndrome.

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