|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Fumarate hydratase expression was retained in all tumors, including those with nuclear features resembling fumarate hydratase-deficient RCCs.
|
29851703 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Generalized cellular hypoxia (in sickle cell disease) or pseudohypoxia (in tumors with fumarate hydratase and von Hippel-Lindau mutations or epigenetic silencing) may act alone or in concert at the level of medullary tubular epithelium to promote development of this rare type of renal carcinoma, which could then be genetically reclassified as either fumarate hydratase-associated renal carcinomas or high-grade clear cell renal cell carcinomas.
|
21733559 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Succinate dehydrogenase and fumarate hydratase are mitochondrial proteins of the TCA cycle and the respiratory chain and when mutated lead to tumours of the nervous system known as paragangliomas and pheochromocytomas, and in the case of fumarate hydratase, cutaneous and uterine leiomyomas and renal cell cancer.
|
20304625 |
2010 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.
|
21398687 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, the clinical phenotype of germline mutations in SDHx genes and FH is usually distinct, with FH mutations classically associated with hereditary cutaneous and uterine leiomyomatosis and renal cell carcinoma, although recently an association with PCC/PGL has been reported.
|
25004247 |
2014 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have recently shown that germline mutations in the fumarate hydratase (FH) gene located on 1q43 cause smooth muscle tumours and renal cell carcinoma.
|
12664059 |
2003 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasion.
|
21695080 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients.
|
31524643 |
2020 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
First, 29 RCCs with morphology of TC-PD were identified retrospectively and assessed for FH expression and aberrant succination (2SC) by immunohistochemistry (IHC), with targeted next-generation sequencing of 409 genes-including FH-performed on a subset.
|
27635946 |
2016 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inactivating FH germline mutations are found in patients with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome comprising benign cutaneous/uterine leiomyomas and renal cell carcinoma.
|
29339836 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is caused by germline mutations in the FH gene, and is associated with increased incidence of leiomyomas and a potentially aggressive variant of renal cell carcinoma (HLRCC-associated RCC).
|
28288038 |
2017 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Prominent eosinophilic nucleoli with perinucleolar halos were present in almost all FH-deficient renal cell carcinomas (23/24).
|
29410489 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Importantly, none of these cases demonstrated the characteristic macronucleoli typical of FH-deficient RCC.
|
28898443 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
No progression has been noted at 3 and 7 years in the cases with only the SDH-like lesions; the two cases with separate, typical FH-deficient RCCs progressed.
|
28165631 |
2017 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Programmed death-1 (PD-1) receptor/PD-1 ligand (PD-L1) expression in fumarate hydratase-deficient renal cell carcinoma.
|
28807336 |
2017 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
|
29309300 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
|
30785029 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In total, 212 tumors were identified, and these were classified as microphthalmia transcription factor (MiT) translocation RCC (MiT-RCC) (41.5%), papillary RCC (16.5%), renal medullary carcinoma (12.3%), chromophobe RCC (6.6%), clear cell RCC (3.3%), fumarate hydratase-deficient RCC (1.4%), and succinate dehydrogenase-deficient RCC (0.5%).
|
29905933 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
|
16237213 |
2005 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC), caused by a germline mutation in the fumarate hydratase (FH) gene, predisposes patients to uterine and cutaneous smooth muscle tumors and an aggressive type of renal cell carcinoma.
|
31162287 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma.
|
26574848 |
2016 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this review, we consider these developments, with emphasis on renal medullary carcinoma, closely related renal cell carcinoma, unclassified with medullary phenotype, and fumarate hydratase-deficient renal cell carcinoma.
|
29665139 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Renal cell carcinoma (RCC) is a metabolic disease, being characterized by the dysregulation of metabolic pathways involved in oxygen sensing (VHL/HIF pathway alterations and the subsequent up-regulation of HIF-responsive genes such as VEGF, PDGF, EGF, and glucose transporters GLUT1 and GLUT4, which justify the RCC reliance on aerobic glycolysis), energy sensing (fumarate hydratase-deficient, succinate dehydrogenase-deficient RCC, mutations of HGF/MET pathway resulting in the metabolic Warburg shift marked by RCC increased dependence on aerobic glycolysis and the pentose phosphate shunt, augmented lipogenesis, and reduced AMPK and Krebs cycle activity) and/or nutrient sensing cascade (deregulation of AMPK-TSC1/2-mTOR and PI3K-Akt-mTOR pathways).
|
27453294 |
2016 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Such aggregation of RCC in only some families and populations has led to the hypothesis that besides FH mutations also other inherited genetic and/or environmental factors may contribute to the malignant kidney tumor formation.
|
20091131 |
2010 |