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[PMID]:28747166
[Au] Autor:Chan MMY; Barnicoat A; Mumtaz F; Aitchison M; Side L; Brittain H; Bates AWH; Gale DP
[Ad] Endereço:Centre for Nephrology, University College London, Royal Free Hospital, London, UK.
[Ti] Título:Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
[So] Source:BMC Med Genet;18(1):79, 2017 07 26.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. CONCLUSION: While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/genética
Fumarato Hidratase/deficiência
Fumarato Hidratase/genética
Neoplasias Renais/genética
Erros Inatos do Metabolismo/genética
Hipotonia Muscular/genética
Transtornos Psicomotores/genética
[Mh] Termos MeSH secundário: Carcinoma de Células Renais/diagnóstico
Carcinoma de Células Renais/patologia
Detecção Precoce de Câncer
Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Lactente
Neoplasias Renais/complicações
Neoplasias Renais/diagnóstico
Neoplasias Renais/patologia
Erros Inatos do Metabolismo/complicações
Erros Inatos do Metabolismo/diagnóstico
Erros Inatos do Metabolismo/patologia
Hipotonia Muscular/complicações
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/patologia
Transtornos Psicomotores/complicações
Transtornos Psicomotores/diagnóstico
Transtornos Psicomotores/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171231
[Lr] Data última revisão:
171231
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0436-1


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[PMID]:28628081
[Au] Autor:Wang T; Yu Q; Li J; Hu B; Zhao Q; Ma C; Huang W; Zhuo L; Fang H; Liao L; Eugene Chin Y; Jiang Y
[Ad] Endereço:The Institute of Cell Metabolism, Shanghai Key Laboratory of Pancreatic Disease, Shanghai General Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 200080, China.
[Ti] Título:O-GlcNAcylation of fumarase maintains tumour growth under glucose deficiency.
[So] Source:Nat Cell Biol;19(7):833-843, 2017 Jul.
[Is] ISSN:1476-4679
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Chromatin-associated fumarase (FH) affects histone methylation via its metabolic activity. However, whether this effect is involved in gene transcription remains to be clarified. In this study, we show that under glucose deprivation conditions, AMPK phosphorylates FH at Ser75, which in turn forms a complex with ATF2 and participates in promoter activation. FH-catalysed fumarate in promoter regions inhibits KDM2A demethylase activity, and thus maintains the H3K36me2 profile and facilitates gene expression for cell growth arrest. On the other hand, FH is found to be O-GlcNAcylated at the AMPK phosphorylation site; FH-ATF2-mediated downstream events are impeded by FH O-GlcNAcylation, especially in cancer cells that display robust O-GlcNAc transferase (OGT) activity. Consistently, the FH-Ser75 phosphorylation level inversely correlates with the OGT level and poor prognosis in pancreatic cancer patients. These findings uncover a previously uncharacterized mechanism underlying transcription regulation by FH and the linkage between dysregulated OGT activity and growth advantage of cancer cells under glucose deficiency.
[Mh] Termos MeSH primário: Proliferação Celular
Fumarato Hidratase/metabolismo
Glucose/deficiência
Neoplasias Pancreáticas/enzimologia
[Mh] Termos MeSH secundário: Proteínas Quinases Ativadas por AMP/metabolismo
Fator 2 Ativador da Transcrição/genética
Fator 2 Ativador da Transcrição/metabolismo
Animais
Linhagem Celular Tumoral
Metilação de DNA
Proteínas F-Box/genética
Proteínas F-Box/metabolismo
Regulação Neoplásica da Expressão Gênica
Glicosilação
Seres Humanos
Histona Desmetilases com o Domínio Jumonji/genética
Histona Desmetilases com o Domínio Jumonji/metabolismo
Masculino
Camundongos Nus
Complexos Multiproteicos
N-Acetilglucosaminiltransferases/genética
N-Acetilglucosaminiltransferases/metabolismo
Neoplasias Pancreáticas/genética
Neoplasias Pancreáticas/patologia
Fosforilação
Regiões Promotoras Genéticas
Interferência de RNA
Fatores de Tempo
Ativação Transcricional
Transfecção
Carga Tumoral
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ATF2 protein, human); 0 (Activating Transcription Factor 2); 0 (F-Box Proteins); 0 (Multiprotein Complexes); EC 1.14.11.- (Jumonji Domain-Containing Histone Demethylases); EC 1.14.11.27 (KDM2A protein, human); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.- (O-GlcNAc transferase); EC 2.7.11.31 (AMP-Activated Protein Kinases); EC 4.2.1.2 (Fumarate Hydratase); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE
[do] DOI:10.1038/ncb3562


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[PMID]:28444969
[Au] Autor:Sciacovelli M; Frezza C
[Ad] Endereço:Medical Research Council Cancer Unit, Hutchison/MRC Research Centre, University of Cambridge, UK.
[Ti] Título:Metabolic reprogramming and epithelial-to-mesenchymal transition in cancer.
[So] Source:FEBS J;284(19):3132-3144, 2017 Oct.
[Is] ISSN:1742-4658
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Several lines of evidence indicate that during transformation epithelial cancer cells can acquire mesenchymal features via a process called epithelial-to-mesenchymal transition (EMT). This process endows cancer cells with increased invasive and migratory capacity, enabling tumour dissemination and metastasis. EMT is associated with a complex metabolic reprogramming, orchestrated by EMT transcription factors, which support the energy requirements of increased motility and growth in harsh environmental conditions. The discovery that mutations in metabolic genes such as FH, SDH and IDH activate EMT provided further evidence that EMT and metabolism are intertwined. In this review, we discuss the role of EMT in cancer and the underpinning metabolic reprogramming. We also put forward the hypothesis that, by altering chromatin structure and function, metabolic pathways engaged by EMT are necessary for its full activation.
[Mh] Termos MeSH primário: Transformação Celular Neoplásica/metabolismo
Reprogramação Celular/genética
Transição Epitelial-Mesenquimal/genética
Regulação Neoplásica da Expressão Gênica
Redes e Vias Metabólicas/genética
Neoplasias/metabolismo
[Mh] Termos MeSH secundário: Movimento Celular
Transformação Celular Neoplásica/genética
Transformação Celular Neoplásica/patologia
Cromatina/química
Cromatina/metabolismo
Fumarato Hidratase/genética
Fumarato Hidratase/metabolismo
Seres Humanos
Isocitrato Desidrogenase/genética
Isocitrato Desidrogenase/metabolismo
Mutação
Invasividade Neoplásica
Neoplasias/genética
Neoplasias/patologia
Células-Tronco Neoplásicas/metabolismo
Células-Tronco Neoplásicas/patologia
Succinato Desidrogenase/genética
Succinato Desidrogenase/metabolismo
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Chromatin); 0 (Transcription Factors); EC 1.1.1.41 (Isocitrate Dehydrogenase); EC 1.3.99.1 (Succinate Dehydrogenase); EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1111/febs.14090


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[PMID]:28400389
[Au] Autor:Adams A; Sharpe KK; Peters P; Freeman M
[Ad] Endereço:Royal Australian College of General Practitioners, Graceville, Australia.
[Ti] Título:Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach.
[So] Source:BMJ Case Rep;2017, 2017 Apr 11.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary features. This syndrome is rare and carries with it a significant rate of mortality. A multidisciplinary approach to care is critical in the management of these patients and their families. The dermatologist can play a central role in this process, coordinating care between specialist medical and allied health teams.
[Mh] Termos MeSH primário: Fumarato Hidratase/genética
Leiomiomatose/diagnóstico por imagem
Mutação
Síndromes Neoplásicas Hereditárias/diagnóstico por imagem
Neoplasias Cutâneas/diagnóstico por imagem
Neoplasias Uterinas/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Gerenciamento Clínico
Aconselhamento Genético
Seres Humanos
Leiomiomatose/genética
Leiomiomatose/cirurgia
Masculino
Síndromes Neoplásicas Hereditárias/genética
Síndromes Neoplásicas Hereditárias/cirurgia
Neoplasias Cutâneas/genética
Neoplasias Cutâneas/cirurgia
Neoplasias Uterinas/genética
Neoplasias Uterinas/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170413
[St] Status:MEDLINE


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[PMID]:28289076
[Au] Autor:Kerins MJ; Vashisht AA; Liang BX; Duckworth SJ; Praslicka BJ; Wohlschlegel JA; Ooi A
[Ad] Endereço:Department of Pharmacology and Toxicology, College of Pharmacy, University of Arizona, Tucson, Arizona, USA.
[Ti] Título:Fumarate Mediates a Chronic Proliferative Signal in Fumarate Hydratase-Inactivated Cancer Cells by Increasing Transcription and Translation of Ferritin Genes.
[So] Source:Mol Cell Biol;37(11), 2017 Jun 01.
[Is] ISSN:1098-5549
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Germ line mutations of the gene encoding the tricarboxylic acid (TCA) cycle enzyme fumarate hydratase ( ) cause a hereditary cancer syndrome known as hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC-associated tumors harbor biallelic inactivation that results in the accumulation of the TCA cycle metabolite fumarate. Although it is known that fumarate accumulation can alter cellular signaling, if and how fumarate confers a growth advantage remain unclear. Here we show that fumarate accumulation confers a chronic proliferative signal by disrupting cellular iron signaling. Specifically, fumarate covalently modifies cysteine residues on iron regulatory protein 2 (IRP2), rendering it unable to repress ferritin mRNA translation. Simultaneously, fumarate increases ferritin gene transcription by activating the NRF2 (nuclear factor [erythroid-derived 2]-like 2) transcription factor. In turn, increased ferritin protein levels promote the expression of the promitotic transcription factor FOXM1 (Forkhead box protein M1). Consistently, clinical HLRCC tissues showed increased expression levels of both FOXM1 and its proliferation-associated target genes. This finding demonstrates how inactivation can endow cells with a growth advantage.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/patologia
Ferritinas/genética
Fumarato Hidratase/metabolismo
Fumaratos/farmacologia
Neoplasias Renais/patologia
Leiomiomatose/patologia
Biossíntese de Proteínas/efeitos dos fármacos
Transcrição Genética/efeitos dos fármacos
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Carcinoma de Células Renais/enzimologia
Carcinoma de Células Renais/genética
Linhagem Celular Tumoral
Proliferação Celular/efeitos dos fármacos
Proteína Forkhead Box M1/metabolismo
Seres Humanos
Espaço Intracelular/metabolismo
Proteína 2 Reguladora do Ferro/química
Proteína 2 Reguladora do Ferro/metabolismo
Neoplasias Renais/enzimologia
Neoplasias Renais/genética
Leiomiomatose/enzimologia
Leiomiomatose/genética
Modelos Biológicos
Fator 2 Relacionado a NF-E2/metabolismo
Transdução de Sinais/efeitos dos fármacos
Ácido Succínico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXM1 protein, human); 0 (Forkhead Box Protein M1); 0 (Fumarates); 0 (NF-E2-Related Factor 2); 0 (NFE2L2 protein, human); 9007-73-2 (Ferritins); AB6MNQ6J6L (Succinic Acid); EC 4.2.1.2 (Fumarate Hydratase); EC 4.2.1.3 (IRP2 protein, human); EC 4.2.1.3 (Iron Regulatory Protein 2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE


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[PMID]:28288038
[Au] Autor:Carter CS; Skala SL; Chinnaiyan AM; McHugh JB; Siddiqui J; Cao X; Dhanasekaran SM; Fullen DR; Lagstein A; Chan MP; Mehra R
[Ad] Endereço:Departments of *Pathology §Dermatology †Comprehensive Cancer Center, University of Michigan Health System ‡Michigan Center for Translational Pathology, Ann Arbor, MI.
[Ti] Título:Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.
[So] Source:Am J Surg Pathol;41(6):801-809, 2017 Jun.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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). Absent immunohistochemical expression of fumarate hydratase (FH) has previously been used to diagnose HLRCC-associated RCC, but immunohistochemical staining of leiomyomas is not standard practice. We performed immunohistochemistry (IHC) on whole sections from consecutive cutaneous leiomyomas from our archives to evaluate for both FH and succinate dehydrogenase B expression, in addition to clinicopathologic data collection and review of all hematoxylin and eosin-stained slides for blinded morphologic evaluation of features reported to be seen in HLRCC-associated uterine leiomyomas. Ninety-six cutaneous leiomyomas from 87 patients were identified; 12 of these specimens were from 7 patients with documented HLRCC. FH expression by IHC was absent in 9 specimens and retained in 85 specimens; 2 cases were equivocal with minimal FH expression. Seven of the 9 absent expression specimens were from patients with HLRCC, as were both of the equivocal specimens. The overall sensitivity and specificity of absent FH expression in leiomyomas for detection of patients with HLRCC were 70.0% and 97.6%, respectively. Inclusion of cases classified as equivocal increased sensitivity to 75.0%. Succinate dehydrogenase B expression was retained in 95 specimens and equivocal in 1 specimen. None of the evaluated morphologic features showed any association with leiomyomas in HLRCC. Loss of FH immunohistochemical expression in cutaneous leiomyomas is a sensitive and specific marker for detection of HLRCC, thus suggesting a role for prospective FH IHC in patients with these tumors to screen for HLRCC.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/metabolismo
Fumarato Hidratase/metabolismo
Leiomiomatose/diagnóstico
Síndromes Neoplásicas Hereditárias/diagnóstico
Neoplasias Cutâneas/diagnóstico
Succinato Desidrogenase/metabolismo
Neoplasias Uterinas/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Bases de Dados Factuais
Feminino
Seres Humanos
Imuno-Histoquímica
Leiomiomatose/enzimologia
Leiomiomatose/patologia
Masculino
Síndromes Neoplásicas Hereditárias/enzimologia
Síndromes Neoplásicas Hereditárias/patologia
Sensibilidade e Especificidade
Método Simples-Cego
Neoplasias Cutâneas/enzimologia
Neoplasias Cutâneas/patologia
Neoplasias Uterinas/enzimologia
Neoplasias Uterinas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); EC 1.3.5.1 (SDHB protein, human); EC 1.3.99.1 (Succinate Dehydrogenase); EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000840


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[PMID]:28260082
[Au] Autor:Shan T; Chen S; Chen X; Lin WR; Li W; Ma J; Wu T; Cui X; Ji H; Li Y; Kang Y
[Ad] Endereço:Department of General Surgery, The Second Affiliated Hospital of the Medical College, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
[Ti] Título:Cancer-associated fibroblasts enhance pancreatic cancer cell invasion by remodeling the metabolic conversion mechanism.
[So] Source:Oncol Rep;37(4):1971-1979, 2017 Apr.
[Is] ISSN:1791-2431
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:We investigated the mechanism of cancer-associated fibroblasts (CAFs) in promoting the invasion and metastasis of pancreatic cancer cells in a non-vascular manner. We verified the original generation of isolated cultured CAFs and normal fibroblasts (NFs) based on the expression of α-SMA and vimentin, and we examined the cell glycolysis level through glucose consumption and lactate production experiments. The mRNA and protein expression of CAF glycolytic enzymes, lactate dehydrogenase and pyruvate kinase m2, were examined by RT-PCR and western blotting, respectively. In vitro culture first-generation pancreatic CAFs were collected and cultured together with pancreas cancer BxPc-3 and Panc-1 cells. Cell invasion and migration were assessed using a Transwell assay and scratch test, respectively. Mitochondrial activity was assessed by experimentally determining oxidative phosphorylation (OP) activity. The aerobic oxidation index of cancer cells was also examined. Succinate dehydrogenase, fumarate hydratase (FH), and monocarboxylate transporter 1 (MCT1) expression were examined using an MCT1-specific inhibitor to remove 'tumor-stromal' metabolic coupling to observe the influence of cell interstices on pancreas cancer progression. First-generation isolated cultured CAFs and NFs both grew well, and showed active proliferation. Glucose absorption and lactate production were significantly enhanced in CAFs compared with that in NFs. PCR and western blotting showed that the lactate dehydrogenase and pyruvate kinase m2 mRNA and protein expression levels were increased in the CAFs. After indirect co-culture, OP was increased in the BxPc-3 and Panc-1 cells; correspondingly, succinate dehydrogenase, FH and MCT expression were increased. After the MCT1-specific inhibitor removed 'tumor-stromal' metabolic coupling, the migration and invasion abilities of the pancreatic cancer cells were decreased. Pancreatic CAFs can alter metabolism as well as communicate with and respond to cancer cell migration and invasion. This may be an important mechanism for promoting tumor progression in a non-vascular manner in the tumor microenvironment. The mechanism by which CAFs reshape metabolic transition requires further analysis.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/biossíntese
Fumarato Hidratase/biossíntese
Proteínas Oncogênicas/biossíntese
Neoplasias Pancreáticas/genética
Succinato Desidrogenase/biossíntese
[Mh] Termos MeSH secundário: Actinas/biossíntese
Actinas/genética
Fibroblastos Associados a Câncer/enzimologia
Fibroblastos Associados a Câncer/patologia
Adesão Celular/genética
Proteínas de Ciclo Celular/genética
Linhagem Celular Tumoral
Movimento Celular/genética
Proliferação Celular/genética
Fumarato Hidratase/genética
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Invasividade Neoplásica/genética
Proteínas Oncogênicas/genética
Fosforilação Oxidativa
Neoplasias Pancreáticas/enzimologia
Neoplasias Pancreáticas/patologia
Succinato Desidrogenase/genética
Microambiente Tumoral/genética
Vimentina/biossíntese
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ACTA2 protein, human); 0 (Actins); 0 (Cell Cycle Proteins); 0 (MCTS1 protein, human); 0 (Oncogene Proteins); 0 (Vimentin); EC 1.3.99.1 (Succinate Dehydrogenase); EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170516
[Lr] Data última revisão:
170516
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170306
[St] Status:MEDLINE
[do] DOI:10.3892/or.2017.5479


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[PMID]:28202494
[Au] Autor:Guitart AV; Panagopoulou TI; Villacreces A; Vukovic M; Sepulveda C; Allen L; Carter RN; van de Lagemaat LN; Morgan M; Giles P; Sas Z; Gonzalez MV; Lawson H; Paris J; Edwards-Hicks J; Schaak K; Subramani C; Gezer D; Armesilla-Diaz A; Wills J; Easterbrook A; Coman D; So CW; O'Carroll D; Vernimmen D; Rodrigues NP; Pollard PJ; Morton NM; Finch A; Kranc KR
[Ad] Endereço:Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh EH8 9YL, Scotland, UK.
[Ti] Título:Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions.
[So] Source:J Exp Med;214(3):719-735, 2017 Mar 06.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Strict regulation of stem cell metabolism is essential for tissue functions and tumor suppression. In this study, we investigated the role of fumarate hydratase (Fh1), a key component of the mitochondrial tricarboxylic acid (TCA) cycle and cytosolic fumarate metabolism, in normal and leukemic hematopoiesis. Hematopoiesis-specific deletion (resulting in endogenous fumarate accumulation and a genetic TCA cycle block reflected by decreased maximal mitochondrial respiration) caused lethal fetal liver hematopoietic defects and hematopoietic stem cell (HSC) failure. Reexpression of extramitochondrial Fh1 (which normalized fumarate levels but not maximal mitochondrial respiration) rescued these phenotypes, indicating the causal role of cellular fumarate accumulation. However, HSCs lacking mitochondrial Fh1 (which had normal fumarate levels but defective maximal mitochondrial respiration) failed to self-renew and displayed lymphoid differentiation defects. In contrast, leukemia-initiating cells lacking mitochondrial Fh1 efficiently propagated / -driven leukemia. Thus, we identify novel roles for fumarate metabolism in HSC maintenance and hematopoietic differentiation and reveal a differential requirement for mitochondrial Fh1 in normal hematopoiesis and leukemia propagation.
[Mh] Termos MeSH primário: Fumarato Hidratase/fisiologia
Células-Tronco Hematopoéticas/fisiologia
[Mh] Termos MeSH secundário: Animais
Feminino
Fumaratos/metabolismo
Hematopoese
Histonas/metabolismo
Leucemia Mieloide Aguda/etiologia
Camundongos
Camundongos Endogâmicos C57BL
Mitocôndrias/metabolismo
Fator 2 Relacionado a NF-E2/fisiologia
Consumo de Oxigênio
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fumarates); 0 (Histones); 0 (NF-E2-Related Factor 2); 0 (Nfe2l2 protein, mouse); EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170814
[Lr] Data última revisão:
170814
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20161087


  9 / 857 MEDLINE  
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[PMID]:28196407
[Au] Autor:Vocke CD; Ricketts CJ; Merino MJ; Srinivasan R; Metwalli AR; Middelton LA; Peterson J; Yang Y; Linehan WM
[Ad] Endereço:Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Título:Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma.
[So] Source:Genes Chromosomes Cancer;56(6):484-492, 2017 Jun.
[Is] ISSN:1098-2264
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline mutation of the FH gene. This study evaluated the prevalence and clinical phenotype of FH deletions in HLRCC patients. Patients with phenotypic manifestations consistent with HLRCC who lacked detectable germline FH intragenic mutations were investigated for FH deletion. A series of 28 patients from 13 families were evaluated using a combination of a comparative genomic hybridization (CGH) array and/or CLIA-approved FH deletion/duplication analyses. Thirteen distinct germline deletions were identified in the 13 UOB families, including 11 complete FH gene deletions and 2 partial FH gene deletions. The size of eight evaluated complete FH deletions varied from ∼4.74 Mb to 249 kb, with all deletions resulting in additional gene losses. Two partial FH gene deletions were identified, with one resulting in loss of exon 1 and the upstream region of the FH gene only. Kidney cancer was diagnosed in 9 (32%) of 28 patients and 7 (54%) of 13 families possessing either complete or partial FH deletions. Cutaneous and uterine leiomyomas were observed at similar rates to those in FH point mutation families. Complete or partial FH gene alterations in HLRCC families are associated with all of the canonical HLRCC manifestations, including type 2 papillary kidney cancer and should be screened for in any patient at-risk for this disorder.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/genética
Fumarato Hidratase/genética
Deleção de Genes
Genoma
Mutação em Linhagem Germinativa
Neoplasias Renais/genética
Leiomiomatose/genética
Fenótipo
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 4.2.1.2 (Fumarate Hydratase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170509
[Lr] Data última revisão:
170509
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1002/gcc.22452


  10 / 857 MEDLINE  
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[PMID]:28195105
[Au] Autor:Adamane S; Desai S; Menon S
[Ad] Endereço:Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India.
[Ti] Título:Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
[So] Source:Indian J Pathol Microbiol;60(1):108-110, 2017 Jan-Mar.
[Is] ISSN:0974-5130
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently described entity with unknown exact prevalence. The affected individuals are predisposed to have multiple leiomyomas and renal cancer due to germline mutation in fumarate hydratase gene on chromosome 1. The knowledge of this rare tumour is essential for early recognition and institution of appropriate therapy, since they have a grave prognosis. Herein, we present the first case from India of HLRCC in a 42 year old lady who presented with a renal mass and metastasis with consequent fulminant course of disease. We discuss the detailed histomorphologic features and iunique immunohistochemical signature of this unusual renal tumour with discussion of differential diagnosis.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/complicações
Carcinoma de Células Renais/diagnóstico
Neoplasias Renais/diagnóstico
Neoplasias Renais/patologia
Rim/patologia
Leiomiomatose/complicações
Leiomiomatose/diagnóstico
Neoplasias Cutâneas/complicações
Neoplasias Cutâneas/diagnóstico
Neoplasias Uterinas/complicações
Neoplasias Uterinas/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Biomarcadores Tumorais/análise
Carcinoma de Células Renais/patologia
Cisteína/análogos & derivados
Cisteína/análise
Feminino
Fumarato Hidratase/análise
Histocitoquímica
Seres Humanos
Imuno-Histoquímica
Índia
Leiomiomatose/patologia
Microscopia
Síndromes Neoplásicas Hereditárias
Neoplasias Cutâneas/patologia
Neoplasias Uterinas/patologia
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (S-(2-succinyl)cysteine); EC 4.2.1.2 (Fumarate Hydratase); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.4103/0377-4929.200025



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