Associated Papers
Fumarate hydratase-deficient renal cell carcinoma: high intratumoral and peritumoral CD4-positive T cell infiltration density and high PD-L1 expression.
Yu Y et al.
World Journal of Urology, 2025
Comprehensive molecular profiling of FH-deficient renal cell carcinoma identifies molecular subtypes and potential therapeutic targets.
Zhang X et al.
Nature Communications, 2025
The use of Clinicopathological, immunohistochemistry and molecular detection in the diagnosis of fumarate hydratase-deficient uterine leiomyomas.
Zhang X et al.
Pathology, Research and Practice, 2024
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Uimari O et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_ClinVar
Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.
Mäkinen N et al.
Molecular Cancer, 2017
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Kämpjärvi K et al.
British Journal of Cancer, 2016
Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Tolvanen J et al.
Human Reproduction (oxford, England), 2012
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.
Lehtonen HJ
Familial Cancer, 2011
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
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