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1 May 2024
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Cover Image
Cover Image
Women with germline pathogenic variants in the fumarate hydratase (FH) gene are at an increased risk of developing aggressive renal cell carcinomas, but many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed. The prevalence of germline pathogenic/likely pathogenic variants (PVs) in FH among atypical uterine leiomyomata cases is unknown. In this study starting on page 201, Kipnis and colleagues conducted a retrospective analysis on a large dataset of atypical uterine leiomyomata cases with germline FH testing results to help better define FH PV prevalence and to understand current patterns of genetic counseling and germline genetic testing after a pathology-based atypical uterine leiomyoma diagnosis. The cover image is adapted from the hematoxylin and eosin images shown in Figure 1, which demonstrate three different atypical uterine leiomyomas, one of which is FH-proficient, and two of which are or may be FH-deficient. The results of this study suggest that while all three patients would benefit from genetic counseling, there is a need for improvement in the pathology-genetic counseling referral pathway. Additionally, these results provide a more precise estimate of the frequency of germline FH PVs. - PDF Icon PDF LinkTable of Contents
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ISSN 1940-6207
EISSN 1940-6215
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