Associated Papers
Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.
Liu Y et al.
The Journal of Pathology, 2026
Clinicopathological and molecular features of so-called low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma: a study of 5 cases.
Xie B et al.
Virchows Archiv : an International Journal of Pathology, 2025
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.
Wang H et al.
Human Genomics, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.
McMurtry V et al.
American Journal of Clinical Pathology, 2023
How a woman's myomectomy saved her father's life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase.
Rivera-Cruz G et al.
F&s Reports, 2022
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Forde C et al.
European Urology Oncology, 2020
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Choi G et al.
The American Journal of the Medical Sciences, 2020
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
The classification of pediatric and young adult renal cell carcinomas registered on the children's oncology group (COG) protocol AREN03B2 after focused genetic testing.
Cajaiba MM et al.
Cancer, 2018
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
Muller M et al.
Clinical Genetics, 2017
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Smith SC et al.
The American Journal of Surgical Pathology, 2016
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Harrison WJ et al.
The American Journal of Surgical Pathology, 2016
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Mann ML et al.
Obstetrics and Gynecology, 2015
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Bardella C et al.
The Journal of Pathology, 2011
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
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Vahteristo P et al.
Familial Cancer, 2010