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BIOMARKER:

FH mutation

i
Other names: FH, Fumarate Hydratase, Fumarase, Fumarate Hydratase, Mitochondrial, Epididymis Secretory Sperm Binding Protein, HLRCC, MCUL1, FMRD, LRCC, MCL
Entrez ID:
Related biomarkers:
11ms
Impaired oxidative phosphorylation drives primary tumor escape and metastasis. (PubMed, bioRxiv)
These findings highlight the importance of dynamic shifts in metabolism for cell migration and metastasis, with mitochondrial impairment driving early phases of this process. Understanding mitochondrial dynamics may have important implications in both basic and translational efforts to prevent cancer deaths.
Journal
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FH (Fumarate Hydratase) • NDUFA4L2 (NDUFA4 Mitochondrial Complex Associated Like 2)
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FH mutation • NDUFA4L2 overexpression
1year
Complete response to fifth-line anti-PD-1 rechallenge in fumarate hydratase-mutated papillary renal cell carcinoma. (PubMed, NPJ Precis Oncol)
Here, we present the 10-year follow-up of a heavily pre-treated patient with several lines of therapy, achieving a remarkable complete response to anti-PD-1 rechallenge. In addition, we highlight a common immune-related adverse event of anti-PD-1, eosinophilia, as a possible biomarker of response and using TCGA data analysis, provide proof-of-concept for tumor expression of the eosinophil-related gene SIGLEC8, as a promising powerful predictor of prognosis for papillary renal cell carcinoma patients.
Journal • PD(L)-1 Biomarker • IO biomarker
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FH (Fumarate Hydratase) • SIGLEC8 (Sialic Acid Binding Ig Like Lectin 8)
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FH mutation
over1year
The WHO 2022 Classification of Renal Neoplasms (5th Edition): Salient Updates. (PubMed, Cureus)
Improved therapy targets for each kidney tumour can be achieved using immunohistochemistry (IHC) and molecular definition updates. This study aims to highlight new developments in the WHO 2022 categorization of renal tumours with regard to diagnostic, morphological, molecular, IHC, clinical, and prognostic updates.
Review • Journal
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ALK (Anaplastic lymphoma kinase) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FH (Fumarate Hydratase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3) • TFEB (Transcription Factor EB 2)
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ALK rearrangement • FH mutation
over1year
The New WHO Category of "Molecularly Defined Renal Carcinomas": Clinical and Diagnostic Features and Management Implications. (PubMed, Urol Oncol)
Already, important management aspects are apparent for several of these entities, while emerging therapeutic angles are coming into view. A brief, clinically-oriented introduction of the entities in this new category, focusing on relevant diagnostic, molecular, and management aspects, is the subject of this review.
Review • Journal
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ALK (Anaplastic lymphoma kinase) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FH (Fumarate Hydratase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • TFEB (Transcription Factor EB 2)
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ALK rearrangement • FH mutation
almost2years
A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. (PubMed, F S Rep)
This patient was at risk for early disease relapse and developing renal cancer, and close disease monitoring is recommended. Meanwhile, the expanded mutation database should benefit patients in diagnosing FH gene-associated ULMs.
Journal
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FH (Fumarate Hydratase)
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FH mutation
2years
Clinical • P3 data • PD(L)-1 Biomarker • IO biomarker • Metastases
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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) • sunitinib • Orpathys (savolitinib)
over2years
Increased Occurrence of Cutaneous Leiomyomas and Dermatofibromas in Patients with Uterine Leiomyomas without Fumarate Hydratase Gene Mutations. (PubMed, Dermatopathology (Basel))
In vitro studies documented that TGFβ-1 treatment and vitamin D3 have opposite effects on α-SMA, TGFβR2 and VDR expression on dermal fibroblast and leiomyoma cell cultures. This unreported increased occurrence of CLs and DFs in FH non-mutated patients with symptomatic ULs with vitamin D deficiency suggests a potential pathogenetic role of vitamin D bioavailability also for CLs and DFs.
Journal
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FH (Fumarate Hydratase) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • TGFB1 (Transforming Growth Factor Beta 1) • SMAD3 (SMAD Family Member 3) • VDR (Vitamin D Receptor)
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FH mutation
over2years
Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations. (PubMed, Int J Surg Pathol)
Our findings suggest that groups 1 and 2 are unlikely to be morphologically distinguishable by individual morphologic features. Whether there is a combination of features that can reliably make this distinction is unclear and will require additional studies with larger cohorts.
Journal
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FH (Fumarate Hydratase)
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FH mutation
3years
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) • sunitinib • Orpathys (savolitinib)