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BIOMARKER:

FH mutation

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Other names: FH, Fumarate Hydratase, Fumarase, Fumarate Hydratase, Mitochondrial, Epididymis Secretory Sperm Binding Protein, HLRCC, MCUL1, FMRD, LRCC, MCL
Entrez ID:
2ms
SAMETA: A Phase III study of savolitinib + durvalumab vs sunitinib and durvalumab monotherapy in patients with MET-driven, unresectable, locally advanced/metastatic papillary renal cell carcinoma (KCRS 2022)
Current status The first patient was enrolled onto the study on 28 October 2021. At the early enrollment stage, during the biomarker pre-screening, approximately 28% of patients with PRCC who submitted a sample had eligible MET-driven status and of these patients with MET-driven PRCC, approximately 70% also met other eligibility criteria and were randomized.
Clinical • P3 data • PD(L)-1 Biomarker • IO biomarker
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HGF (Hepatocyte growth factor) • FH (Fumarate Hydratase)
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PD-L1 expression • MET amplification • FH mutation • HGF amplification
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Imfinzi (durvalumab) • Sutent (sunitinib) • Orpathys (savolitinib)
1year
Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas. (PubMed, Am J Surg Pathol)
We suggest that when patient's medical history and/or histopathologic tumor characteristics indicate potential FH-deficiency, the tumor's FH status is determined by 2SC staining. When aberrant staining is observed, the patient can be directed to genetic counseling and mutation screening.
Journal
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FH (Fumarate Hydratase)
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FH mutation
1year
Cutaneous Leiomyoma: A Clinical Study of 152 Patients. (PubMed, Dermatology)
In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.
Clinical • Journal
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FH (Fumarate Hydratase)
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FH mutation
1year
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION? (PubMed, Acta Clin Belg)
A heterozygous pathogenic variant was detected in the FH gene. : To our knowledge, this is the first case possibly linking HL and T-ALL through FH deficiency.
Journal
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FH (Fumarate Hydratase)
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FH mutation