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 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate the FH c.1431_1433dupAAA is not associated with cancer including renal cell carcinoma.
|
31444830 |
2020 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
None of the tumors showed mutational profiles characteristic of other renal neoplasms, including those seen in fumarate hydratase-deficient renal cell carcinoma.
|
30622286 |
2019 |
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Diffuse nuclear and cytoplasmic 2SC staining, with retained FH expression was seen in one case (suggestive of dysfunctional FH protein), while absent FH was seen in 3 cases (2/400 papillary RCCs, 0.5% and 2/46 unclassified RCCs, 4.35%).
|
31299266 |
2019 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
In total, 24 cytologic and limited biopsy samples from 19 patients (6 women and 13 men; age range, 22-69 years) who had FH-deficient RCC and metastasis at presentation were evaluated.
|
30339328 |
2018 |
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients.
|
29689242 |
2018 |
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase.
|
29797630 |
2018 |
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Importantly, the mTORC1-FH axis is likely conserved in human RCC specimens.
|
30067967 |
2018 |
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Example of such entities are fumarate hydratase-deficient renal cell carcinoma (RCC), succinate dehydrogenase-deficient RCC, hereditary gastrointestinal stromal tumor syndromes and many other diseases.
|
29395463 |
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 |
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 |
CDC, RMC, fumarate hydratase-deficient RCC (including hereditary leiomyomatosis and RCC-associated RCC HLRCC-RCC), and recently reported anaplastic lymphoma kinase (ALK)-rearrangement RCC have significant morphologic overlaps, but they are separately distinct entities having different molecular pathway and clinical settings.
|
28181950 |
2017 |
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 |
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 |
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 |