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
Stimulator of interferon genes (STING) immunohistochemical expression in fumarate hydratase-deficient renal cell carcinoma: biological and potential predictive implications.
Marletta S 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
Course of Multimodal Therapy and Genetic Profile of Hereditary Leiomyomatosis and Renal Cell Carcinoma with Early Recurrence during Adjuvant Therapy after Radical Nephrectomy: A Case Report.
Masuda H et al.
Urologia Internationalis, 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
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Identifying Hereditary Leiomyomatosis and Renal Cell Cancer through Unobtrusive Cutaneous Nodules: A Clinical Report.
Šeštokaitė E et al.
Journal of Kidney Cancer and Vhl, 2025
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
Bruinsma F et al.
Cancers, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Bilateral fumarate hydratase deficient renal cell carcinoma in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.
Ono A et al.
Iju Case Reports, 2024
Genetic changes in the FH gene cause vagal paraganglioma.
Snezhkina AV et al.
Frontiers in Endocrinology, 2024
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
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.
Zheng L et al.
The Journal of Clinical Investigation, 2023
Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.
McMurtry V et al.
American Journal of Clinical Pathology, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Wu G et al.
Radiology, 2022
Fumarate inhibits PTEN to promote tumorigenesis and therapeutic resistance of type2 papillary renal cell carcinoma.
Ge X et al.
Molecular Cell, 2022
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Lu E et al.
Cancer, 2022
Comparative molecular analysis of testicular Leydig cell tumors demonstrates distinct subsets of neoplasms with aggressive histopathologic features.
Rizzo NM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Computational Saturation Screen Reveals the Landscape of Mutations in Human Fumarate Hydratase.
Shorthouse D et al.
Journal of Chemical Information and Modeling, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Peetsold M et al.
Journal of Child Neurology, 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
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
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Otake E et al.
The Journal of Dermatology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
PAK4 Phosphorylates Fumarase and Blocks TGFβ-Induced Cell Growth Arrest in Lung Cancer Cells.
Chen T et al.
Cancer Research, 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
Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis.
Bevans SL et al.
Jaad Case Reports, 2018
The decisive role of fumarase: Responsive signaling to glucose deficiency.
Yu Q et al.
Molecular & Cellular Oncology, 2018
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Kopp RP et al.
Cancer, 2017
O-GlcNAcylation of fumarase maintains tumour growth under glucose deficiency.
Wang T et al.
Nature Cell Biology, 2017
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Bortoletto P et al.
Case Reports in Women's Health, 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 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
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Buelow B et al.
The American Journal of Surgical Pathology, 2016
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Ristau BT et al.
Case Reports in Urology, 2015
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Reyes C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014