Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome
AbstractFH 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.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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