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  1 / 1096 MEDLINE  
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[PMID]:29202956
[Au] Autor:Bray MJ; Edwards TL; Wellons MF; Jones SH; Hartmann KE; Velez Edwards DR
[Ad] Endereço:Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee.
[Ti] Título:Admixture mapping of uterine fibroid size and number in African American women.
[So] Source:Fertil Steril;108(6):1034-1042.e26, 2017 Dec.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the relationship between genetic ancestry and uterine fibroid characteristics. DESIGN: Cross-sectional study. SETTING: Not applicable. PATIENT(S): A total of 609 African American participants with image- or surgery-confirmed fibroids in a biorepository at Vanderbilt University electronic health record biorepository and the Coronary Artery Risk Development in Young Adults studies were included. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Outcome measures include fibroid number (single vs. multiple), volume of largest fibroid, and largest fibroid dimension of all fibroid measurements. RESULT(S): Global ancestry meta-analyses revealed a significant inverse association between percentage of European ancestry and risk of multiple fibroids (odds ratio: 0.78; 95% confidence interval 0.66, 0.93; P=6.05 × 10 ). Local ancestry meta-analyses revealed five suggestive (P<4.80 × 10 ) admixture mapping peaks in 2q14.3-2q21.1, 3p14.2-3p14.1, 7q32.2-7q33, 10q21.1, 14q24.2-14q24.3, for number of fibroids and one suggestive admixture mapping peak (P<1.97 × 10 ) in 10q24.1-10q24.32 for volume of largest fibroid. Single variant association meta-analyses of the strongest associated region from admixture mapping of fibroid number (10q21.1) revealed a strong association at single nucleotide polymorphism variant rs12219990 (odds ratio: 0.41; 95% confidence interval 0.28, 0.60; P=3.82 × 10 ) that was significant after correction for multiple testing. CONCLUSION(S): Increasing African ancestry is associated with multiple fibroids but not with fibroid size. Local ancestry analyses identified several novel genomic regions not previously associated with fibroid number and increasing volume. Future studies are needed to explore the genetic impact that ancestry plays into the development of fibroid characteristics.
[Mh] Termos MeSH primário: Afroamericanos/genética
Biomarcadores Tumorais/genética
Leiomioma/genética
Leiomioma/patologia
Leiomiomatose/genética
Leiomiomatose/patologia
Carga Tumoral/genética
Neoplasias Uterinas/genética
Neoplasias Uterinas/patologia
[Mh] Termos MeSH secundário: Adulto
Bancos de Espécimes Biológicos
Estudos Transversais
Bases de Dados Factuais
Registros Eletrônicos de Saúde
Feminino
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Hereditariedade
Seres Humanos
Leiomioma/etnologia
Leiomiomatose/etnologia
Modelos Lineares
Modelos Logísticos
Meia-Idade
Razão de Chances
Fenótipo
Polimorfismo de Nucleotídeo Único
Fatores de Risco
Estados Unidos/epidemiologia
Neoplasias Uterinas/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE


  2 / 1096 MEDLINE  
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[PMID]:28723765
[Au] Autor:Xu J; Wei M; Miao Q; Zhu B; Yu C; Huang Y
[Ad] Endereço:aDepartment of Anesthesiology bDepartment of Cardiac Surgery, Chinese Academy of Medical Sciences/Peking Union Medical College Hospital cDepartment of Anesthesiology, Peking University International Hospital, Beijing, P.R. China.
[Ti] Título:Perioperative management of intracardiac leiomyomatosis: An observational cohort study.
[So] Source:Medicine (Baltimore);96(29):e7522, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Intracardiac leiomyomatosis (ICLM) is a rare condition in which the benign tumor extends into the right heart chambers through inferior vena cava. The best surgical approach still remains unclear.We present a retrospective cohort of 36 patients diagnosed with ICLM in Peking Union Medical College Hospital between 2002 and 2016.The mean patient age was 44.5 (range 25-55) years. The clinical manifestations were various, including shortness of breath, chest tightness, edema of the lower extremities, palpitations, syncope, etc. Cardiac function of 30 patients (80%) remained mildly influenced, classified as New York Heart Association (NYHA) I-II. After careful preoperative evaluation, 19 patients underwent 1-stage operation while the other 17 patients underwent 2-stage operations. The original surgical plans were changed in 5 patients (14%) due to intraoperative transesophageal echocardiography (TEE) monitoring, with the tumor directly extracted through abdominal approach or right atrium without cardiopulmonary bypass and/or deep hypothermic circulatory arrest. Complete resection was achieved in 32 patients (89%). Despite increased volume of blood loss (P < .05), patients undergoing 1-stage operation had significantly shorter operation time, anesthesia time as well as hospital length of stay (P < .05), compared with 2-stage operations. The postoperative complication rates were not different between the 2 groups (P = .684). During mean follow-up time of 36.1 months, recurrence occurred in 7 patients (23%) but all are survived.Precise and full-scale preoperative evaluation of both the tumor anatomy and the patient's tolerability to the surgery should be performed. TEE plays a crucial role in guidance of surgical decision making, and 1-stage extraction of tumor through either abdominal approach or right atrium may be possible.
[Mh] Termos MeSH primário: Neoplasias Cardíacas/terapia
Leiomiomatose/terapia
Cuidados Pré-Operatórios
[Mh] Termos MeSH secundário: Adulto
Procedimentos Cirúrgicos Cardíacos
Ecocardiografia Transesofagiana
Seguimentos
Neoplasias Cardíacas/diagnóstico por imagem
Neoplasias Cardíacas/patologia
Seres Humanos
Leiomiomatose/diagnóstico por imagem
Leiomiomatose/patologia
Meia-Idade
Recidiva Local de Neoplasia
Estudos Retrospectivos
Análise de Sobrevida
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007522


  3 / 1096 MEDLINE  
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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


  4 / 1096 MEDLINE  
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[PMID]:28314682
[Au] Autor:Patel VM; Handler MZ; Schwartz RA; Lambert WC
[Ad] Endereço:Dermatology, Rutgers New Jersey Medical School, Newark, New Jersey.
[Ti] Título:Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.
[So] Source:J Am Acad Dermatol;77(1):149-158, 2017 Jul.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing. Because of the potentially aggressive nature of renal cell carcinomas that develop as early as in childhood, close annual cancer surveillance is desirable in individuals with HLRCC. In this review, we offer an update and an approach to the diagnosis, management, and renal cancer surveillance in HLRCC.
[Mh] Termos MeSH primário: Leiomiomatose/diagnóstico
Leiomiomatose/terapia
Síndromes Neoplásicas Hereditárias/diagnóstico
Síndromes Neoplásicas Hereditárias/terapia
Neoplasias Cutâneas/diagnóstico
Neoplasias Cutâneas/terapia
Neoplasias Uterinas/diagnóstico
Neoplasias Uterinas/terapia
[Mh] Termos MeSH secundário: Algoritmos
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170721
[Lr] Data última revisão:
170721
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170319
[St] Status:MEDLINE


  5 / 1096 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


  6 / 1096 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


  7 / 1096 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


  8 / 1096 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


  9 / 1096 MEDLINE  
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[PMID]:28192805
[Au] Autor:Takahashi K; Ishii Y; Hayashi K; Ikarashi S; Kawai H; Sato Y; Terai S
[Ad] Endereço:Division of Gastroenterology and Hepatology, Graduate School of Medical and Dental Science, Niigata University, Niigata, Japan.
[Ti] Título:Loss of peristalsis of the esophagus due to diffuse esophageal leiomyomatosis.
[So] Source:Endoscopy;49(S 01):E95-E96, 2017 Feb.
[Is] ISSN:1438-8812
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Neoplasias Esofágicas/fisiopatologia
Esôfago/fisiopatologia
Leiomiomatose/fisiopatologia
Peristaltismo
[Mh] Termos MeSH secundário: Adolescente
Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico
Neoplasias Esofágicas/diagnóstico por imagem
Neoplasias Esofágicas/patologia
Esôfago/diagnóstico por imagem
Feminino
Seres Humanos
Leiomiomatose/diagnóstico por imagem
Leiomiomatose/patologia
Imagem por Ressonância Magnética
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE
[do] DOI:10.1055/s-0043-100691


  10 / 1096 MEDLINE  
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[PMID]:28181950
[Au] Autor:Seo AN; Yoon G; Ro JY
[Ad] Endereço:*Department of Pathology, Kyungpook National University Medical Center, Kyungpook National University School of Medicine, Daegu, Korea †Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX.
[Ti] Título:Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas.
[So] Source:Adv Anat Pathol;24(2):65-77, 2017 Mar.
[Is] ISSN:1533-4031
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Collecting duct carcinoma (CDC) and related tumors [ie, renal medullary carcinoma (RMC)] are rare types of highly aggressive renal cell carcinomas (RCC) with poor prognosis. Because of the rarity and diagnostic uncertainty of them, their molecular pathology and significance have not yet been fully elucidated. 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. CDC is more likely to occur in middle to old age population with immunoreactivity for PAX8 and integrase interactor-1 proteins (INI-1). Various chromosomal and genomic alterations have been reported with inconsistent results. In contrast, RMC is more likely to occur in younger patients with sickle cell trait. In RMC, loss of INI-1 expression and OCT3/4 expression are distinguished compared with other RCCs. Finally, ALK-rearrangement RCC seems to have 2 different clinical settings, one with sickle cell trait (VCL-ALK fusion) and the other without (other fusions such as TPM3-ALK, EML4-ALK, and STRN-ALK fusions). Interestingly, VCL-ALK fusion was found in pediatric patients with sickle cell trait, whereas other fusions were detected in adolescent or adult without sickle cell trait. Taken together, CDC and related tumors such as RMC, fumarate hydratase-deficient RCC (including hereditary leiomyomatosis and RCC-associated RCC), and ALK-rearrangement RCC are the distinct entities and their recognition is important for the development of future personalized therapeutic options. This review updates the clinicopathologic features of these tumors with overlapping morphology and outcome.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/metabolismo
Carcinoma de Células Renais/patologia
Neoplasias Renais/metabolismo
Neoplasias Renais/patologia
Patologia Molecular
Receptores Proteína Tirosina Quinases/metabolismo
[Mh] Termos MeSH secundário: Carcinoma de Células Renais/diagnóstico
Seres Humanos
Neoplasias Renais/diagnóstico
Leiomiomatose/diagnóstico
Leiomiomatose/metabolismo
Leiomiomatose/patologia
Patologia Molecular/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases); EC 2.7.10.1 (anaplastic lymphoma kinase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE
[do] DOI:10.1097/PAP.0000000000000138



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