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
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
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
Comprehensive molecular profiling of FH-deficient renal cell carcinoma identifies molecular subtypes and potential therapeutic targets.
Zhang X et al.
Nature Communications, 2025
Prospective Fumarate Hydratase Tumor Predisposition Syndrome Screening in Patients With Uterine Smooth Muscle Tumors: Age, Morphology, Fumarate Hydratase/S-(2-succino) Cysteine Immunohistochemistry, and Germline Testing.
McHenry A et al.
The American Journal of Surgical Pathology, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model.
Ferris S et al.
Genetics in Medicine Open, 2025
Sequential therapy for hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma: a case report and report of a new family pedigree.
Tsuboi I et al.
Oxford Medical Case Reports, 2024
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
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.
Pan HH et al.
Journal of Medical 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
Genomic Characteristics and Single-Cell Profiles After Immunotherapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Dong P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Ceyhan-Birsoy O et al.
Genome Medicine, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.
Golob V et al.
Croatian Medical Journal, 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
Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.
Casey RT et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients.
Lau HD et al.
The American Journal of Surgical Pathology, 2020
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Hol JA et al.
Familial Cancer, 2020
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Chan E et al.
The American Journal of Surgical Pathology, 2019
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Pivovarčíková K et al.
Ceskoslovenska Patologie, 2019
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Kopp RP et al.
Cancer, 2017
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Sciacovelli M et al.
Nature, 2016
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Trpkov K et al.
The American Journal of Surgical Pathology, 2016
Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution.
Kovac M et al.
Nature Communications, 2015
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
Chen YB et al.
The American Journal of Surgical Pathology, 2014
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.
Lehtonen HJ
Familial Cancer, 2011
Structural basis of fumarate hydratase deficiency.
Picaud S et al.
Journal of Inherited Metabolic Disease, 2011
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.
Alrashdi I et al.
Familial Cancer, 2010
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Vahteristo P et al.
Familial Cancer, 2010
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
Badeloe S et al.
The British Journal of Dermatology, 2009