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
A Case of a Fumarate Hydratase Deficient Astrocytoma in Association With a Germline Fumarate Hydratase Mutation With Review of the Literature: Considerations for Patients With Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome.
Alfattal R et al.
The American Journal of Surgical Pathology, 2026
Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.
Mafficini A et al.
Journal of Neuropathology and Experimental Neurology, 2025
Skin cancer risk in hereditary mixed cancer syndromes.
Nikkola V et al.
Hereditary Cancer in Clinical Practice, 2025
Revealing the Angiogenic Signature of FH-Deficient Breast Cancer: Genomic Profiling and Clinical Implications.
Sinberger LA et al.
Cancers, 2025
Long survival in a patient with fumarate hydratase mutation-associated glioma.
Reimann RR et al.
Journal of Neuropathology and Experimental Neurology, 2025
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR et al.
Human Molecular Genetics, 2023
AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Zheng L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR et al.
Cancer Discovery, 2023
Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.
Franke K et al.
Clinical Case Reports, 2022
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
Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.
Bulku A et al.
The Open Biochemistry Journal, 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
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Sommer LL et al.
Journal of Dermatological Case Reports, 2016
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
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