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[PMID]:29269530
[Au] Autor:Gutierrez-Perez I; Bryceson YT
[Ad] Endereço:KAROLINSKA INSTITUTET.
[Ti] Título:Single-cell dissection of monosomy 7 syndromes.
[So] Source:Blood;130(25):2693-2695, 2017 12 21.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Deleção Cromossômica
Síndromes Mielodisplásicas/genética
[Mh] Termos MeSH secundário: Cromossomos Humanos Par 7
Seres Humanos
Cariotipagem
Monossomia
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180118
[Lr] Data última revisão:
180118
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171223
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-11-811935


  2 / 1629 MEDLINE  
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[PMID]:28810145
[Au] Autor:Robertson AG; Shih J; Yau C; Gibb EA; Oba J; Mungall KL; Hess JM; Uzunangelov V; Walter V; Danilova L; Lichtenberg TM; Kucherlapati M; Kimes PK; Tang M; Penson A; Babur O; Akbani R; Bristow CA; Hoadley KA; Iype L; Chang MT; Cherniack AD; Benz C; Mills GB; Verhaak RGW; Griewank KG; Felau I; Zenklusen JC; Gershenwald JE; Schoenfield L; Lazar AJ; Abdel-Rahman MH; Roman-Roman S; Stern MH; Cebulla CM; Williams MD; Jager MJ; Coupland SE; Esmaeli B; Kandoth C; Woodman SE; TCGA Research Network
[Ad] Endereço:Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC V5Z 4S6, Canada.
[Ti] Título:Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma.
[So] Source:Cancer Cell;32(2):204-220.e15, 2017 Aug 14.
[Is] ISSN:1878-3686
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Metilação de DNA
Regulação Neoplásica da Expressão Gênica
Melanoma/genética
Mutação
Neoplasias Uveais/genética
[Mh] Termos MeSH secundário: Variações do Número de Cópias de DNA
Fator de Iniciação 1 em Eucariotos/genética
Seres Humanos
Melanoma/classificação
Monossomia
Fosfoproteínas/genética
Prognóstico
Fatores de Processamento de RNA/genética
Fatores de Processamento de Serina-Arginina/genética
Proteínas Supressoras de Tumor/genética
Ubiquitina Tiolesterase/genética
Neoplasias Uveais/classificação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Eukaryotic Initiation Factor-1); 0 (Phosphoproteins); 0 (RNA Splicing Factors); 0 (SF3B1 protein, human); 0 (SRSF3 protein, human); 0 (Tumor Suppressor Proteins); 0 (eukaryotic peptide initiation factor-1A); 170974-22-8 (Serine-Arginine Splicing Factors); EC 3.1.2.15 (BAP1 protein, human); EC 3.4.19.12 (Ubiquitin Thiolesterase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170930
[Lr] Data última revisão:
170930
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170816
[St] Status:MEDLINE


  3 / 1629 MEDLINE  
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[PMID]:28551161
[Au] Autor:Strickland SA; Sun Z; Ketterling RP; Cherry AM; Cripe LD; Dewald G; Fernandez HF; Hicks GA; Higgins RR; Lazarus HM; Litzow MR; Luger SM; Paietta EM; Rowe JM; Vance GH; Wiernik P; Wiktor AE; Zhang Y; Tallman MS; ECOG-ACRIN Cancer Research Group
[Ad] Endereço:Vanderbilt-Ingram Cancer Center, Nashville, TN, United States. Electronic address: stephen.strickland@vanderbilt.edu.
[Ti] Título:Independent Prognostic Significance of Monosomy 17 and Impact of Karyotype Complexity in Monosomal Karyotype/Complex Karyotype Acute Myeloid Leukemia: Results from Four ECOG-ACRIN Prospective Therapeutic Trials.
[So] Source:Leuk Res;59:55-64, 2017 Aug.
[Is] ISSN:1873-5835
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The presence of a monosomal karyotype (MK+) and/or a complex karyotype (CK+) identifies subcategories of AML with poor prognosis. The prognostic significance of the most common monosomies (monosomy 5, monosomy 7, and monosomy 17) within MK+/CK+AML is not well defined. We analyzed data from 1,592 AML patients age 17-93 years enrolled on ECOG-ACRIN therapeutic trials. The majority of MK+ patients (182/195; 93%) were MK+/CK+ with 87% (158/182) having ≥5 clonal abnormalities (CK≥5). MK+ patients with karyotype complexity ≤4 had a median overall survival (OS) of 0.4y compared to 1.0y for MK- with complexity ≤4 (p<0.001), whereas no OS difference was seen in MK+vs. MK- patients with CK≥5 (p=0.82). Monosomy 5 (93%; 50/54) typically occurred within a highly complex karyotype and had no impact on OS (0.4y; p=0.95). Monosomy 7 demonstrated no impact on OS in patients with CK≥5 (p=0.39) or CK≤4 (p=0.44). Monosomy 17 appeared in 43% (68/158) of CK≥5 patients and demonstrated statistically significant worse OS (0.4y) compared to CK≥5 patients without monosomy 17 (0.5y; p=0.012). Our data suggest that the prognostic impact of MK+is limited to those with less complex karyotypes and that monosomy 17 may independently predict for worse survival in patients with AML.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 17/genética
Leucemia Mieloide Aguda/genética
Monossomia/genética
Prognóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Deleção Cromossômica
Cromossomos Humanos Par 5
Cromossomos Humanos Par 7
Seres Humanos
Cariotipagem
Leucemia Mieloide Aguda/mortalidade
Meia-Idade
Taxa de Sobrevida
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170529
[St] Status:MEDLINE


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[PMID]:28395813
[Au] Autor:Khoral P; Atenafu EG; Craddock KJ; Schimmer A; Chang H
[Ad] Endereço:Department of Laboratory Hematology and Pathology, University Health Network, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University Health Network, Toronto, Ontario, Canada.
[Ti] Título:Prognostic Effect of Complex Karyotype, Monosomal Karyotype, and Chromosome 17 Abnormalities in B-Cell Acute Lymphoblastic Leukemia.
[So] Source:Clin Lymphoma Myeloma Leuk;17(4):215-219, 2017 Apr.
[Is] ISSN:2152-2669
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The effect of monosomal karyotype (MK), complex karyotype (CK), and chromosome 17 abnormalities (abnl 17) on prognosis in B-cell acute lymphoid leukemia (B-ALL) has not yet been established. PATIENTS AND METHODS: We conducted a retrospective analysis of prognostic factors on 237 adult patients with B-ALL treated at our institution. RESULTS: Older age (older than 60 years), higher white blood cell count (> 30), and abnl 17 were associated with shorter overall survival in univariate analysis, but multivariable analysis only identified older age as an independent poor prognostic actor. There was a significant correlation between abnl 17 and older age. CONCLUSION: In contrast to the patients with acute myeloid leukemia, our results show that MK and CK do not play a predictive role in patients with B-ALL, but further study is required to determine whether specific changes on chromosome 17 might have prognostic value when investigated separately.
[Mh] Termos MeSH primário: Linfócitos B/patologia
Cromossomos Humanos Par 17/genética
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
Monossomia/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Aberrações Cromossômicas
Feminino
Seres Humanos
Cariótipo
Cariotipagem/métodos
Masculino
Meia-Idade
Prognóstico
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE


  5 / 1629 MEDLINE  
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[PMID]:28380529
[Au] Autor:Berry DP; Wolfe A; O'Donovan J; Byrne N; Sayers RG; Dodds KG; McEwan JC; O'Connor RE; McClure M; Purfield DC
[Ti] Título:Characterization of an X-chromosomal non-mosaic monosomy (59, X0) dairy heifer detected using routinely available single nucleotide polymorphism genotype data.
[So] Source:J Anim Sci;95(3):1042-1049, 2017 Mar.
[Is] ISSN:1525-3163
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Evidence exists from a range of species on the impact of karyotype abnormalities on reproductive performance. Despite this, cytogenetic analyses of cattle, especially females, are not routinely undertaken. Genome-wide single nucleotide polymorphism (SNP) genotype data are now, however, routinely being generated in many species globally at a relatively low cost. The objective of the present study was to evaluate the potential of routinely available SNP genotype data to identify sex-chromosome aberrations using X chromosome monosomy 59,X0 as a case study for illustration. A single 2.5-yr old Holstein-Friesian heifer was detected with a mean allelic intensity of SNP on the X chromosome almost 17 standard deviations less than the mean of other genotyped females ( = 103,326). Following cytogenetic analysis (10 replicates by karyotyping and a further 140 by FISH), the female was deduced to be a non-mosaic 59,X0. The female had never produced a calf and, although gross examination revealed no physical abnormalities, she was smaller in size than expected based on her breed and age. Given the age of the animal at slaughter, the uterus and uterine tubes appeared immature and inactive. The oviduct appeared normal while the single ovary present contained a markedly reduced number of follicles. There was, however, some evidence of prior ovulation and formation of corpora lutea. The approach proposed in the present study to identify allosome aneuploidy from routinely available genotype data can be used to screen for such abnormalities at no additional cost to the breeder or producer.
[Mh] Termos MeSH primário: Doenças dos Bovinos/genética
Genótipo
Infertilidade Feminina/veterinária
Monossomia/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Alelos
Animais
Bovinos
Feminino
Predisposição Genética para Doença
Infertilidade Feminina/genética
Cariotipagem
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.2527/jas.2016.1279


  6 / 1629 MEDLINE  
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[PMID]:28371302
[Au] Autor:Podolska A; Kobelt A; Fuchs S; Hackmann K; Rump A; Schröck E; Kutsche K; Di Donato N
[Ad] Endereço:Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[Ti] Título:Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
[So] Source:Am J Med Genet A;173(5):1334-1341, 2017 May.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pattern of X chromosome inactivation (XCI) is typically random in females. However, chromosomal rearrangements affecting the X chromosome can result in XCI skewing due to cell growth disadvantage. In case of an X;autosome translocation, this usually leads to an XCI pattern of 100:0 with the derivative X being the active one in the majority of females. A de novo balanced X;6 translocation [46,X,t(X;6)(p22.1;q27)] and a completely skewed XCI pattern (100:0) were detected in a female patient with microcephaly, cerebellar vermis hypoplasia, heart defect, and severe developmental delay. We mapped the breakpoint regions using fluorescence in situ hybridization and found the X-linked gene POLA1 to be disrupted. POLA1 codes for the catalytic subunit of the polymerase α-primase complex which is responsible for initiation of the DNA replication process; absence of POLA1 is probably incompatible with life. Consequently, by RBA banding we determined which of the X chromosomes was the active one in the patient. In all examined lymphocytes the wild-type X chromosome was active. We propose that completely skewed XCI favoring the normal X chromosome resulted from death of cells with an active derivative X that was caused by a non-functional POLA1 gene. In summary, we conclude that functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 are responsible for the clinical phenotype of the patient. This case demonstrates the importance of determining which one of the X chromosomes underwent inactivation to correlate clinical features of a female with an X;autosome translocation with the nature of the genetic alteration.
[Mh] Termos MeSH primário: Cromossomos Humanos X/genética
DNA Polimerase III/genética
Deficiências do Desenvolvimento/genética
Microcefalia/genética
Inativação do Cromossomo X/genética
[Mh] Termos MeSH secundário: Adulto
Vermis Cerebelar/fisiopatologia
Cromossomos Humanos Par 6/genética
Deficiências do Desenvolvimento/fisiopatologia
Feminino
Genes Ligados ao Cromossomo X
Genótipo
Seres Humanos
Hibridização in Situ Fluorescente
Microcefalia/fisiopatologia
Monossomia/genética
Fenótipo
Translocação Genética/genética
Dissomia Uniparental/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.- (DNA Polymerase III); EC 2.7.7.- (DNA polymerase A)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38183


  7 / 1629 MEDLINE  
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[PMID]:28324640
[Au] Autor:Yucel OK; Saliba RM; Rondon G; Ahmed S; Alousi A; Bashir Q; Ciurea SO; Popat U; Khouri I; Marin D; Rezvani K; Kebriaei P; Shpall EJ; Champlin RE; Oran B
[Ad] Endereço:Department of Stem Cell Transplantation and Cellular Therapy, The University of Texas MD Anderson Cancer Center, Houston, Texas.
[Ti] Título:Cytogenetics and comorbidity predict outcomes in older myelodysplastic syndrome patients after allogeneic stem cell transplantation using reduced intensity conditioning.
[So] Source:Cancer;123(14):2661-2670, 2017 Jul 15.
[Is] ISSN:1097-0142
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only treatment with a curative potential for myelodysplastic syndrome (MDS) patients. Allo-HSCT has substantial risks, particularly in the elderly, and its role for older MDS patients has yet to be defined. METHODS: We analyzed 88 MDS patients aged ≥ 60 years with allo-HSCT after reduced intensity conditioning regimens over the last decade. The study cohort had high risk features; 47 of 88 (53.4%) patients were > 65 years of age, 24 (27%) patients had cytogenetic abnormalities consistent with monosomal karyotype (MKpos), 33 (38%) patients had histological subtype of RAEB-1 and RAEB-2 at diagnosis, and 45 (51%) patients had a hematopoietic cell transplantation-comorbidity index (HCT-CI) of ≥ 3. RESULTS: The 3-year incidence of progression, transplant-related mortality (TRM), and overall survival (OS) were 26% (95% confidence interval [CI], 18%-37%), 35% (95% CI, 26%-47%), and 41% (95% CI, 30%-52%), respectively. MKpos was the only prognostic factor that increased the risk of disease progression compared with good-risk cytogenetics (hazard ratio [HR] = 9.5, P = .003) as well as MKneg (HR = 3.3, P = .01). For TRM, HCT-CI ≥ 3, but not age >65 years, was associated with worse outcomes (HR = 3.1, P = .007). Cytogenetics and HCT-CI enabled us to identify prognostic groups for OS. MKpos patients had the worst 3-year OS (17%), whereas patients with good-risk cytogenetics and HCT-CI < 3 had the best OS (92%). CONCLUSION: Our results confirm that allo-HSCT can provide long-term survival in older MDS patients. Cytogenetics and HCT-CI identify prognostic risk groups and guide selection of older MDS patients who are candidates for allo-HSCT. Cancer 2017;123:2661-70. © 2017 American Cancer Society.
[Mh] Termos MeSH primário: Transplante de Células-Tronco Hematopoéticas/métodos
Síndromes Mielodisplásicas/terapia
Condicionamento Pré-Transplante/métodos
Transplante Homólogo/métodos
[Mh] Termos MeSH secundário: Idoso
Anemia Refratária com Excesso de Blastos/epidemiologia
Anemia Refratária com Excesso de Blastos/genética
Anemia Refratária com Excesso de Blastos/terapia
Causas de Morte
Aberrações Cromossômicas
Comorbidade
Progressão da Doença
Feminino
Doença Enxerto-Hospedeiro/epidemiologia
Seres Humanos
Leucemia Mielomonocítica Crônica/epidemiologia
Leucemia Mielomonocítica Crônica/genética
Leucemia Mielomonocítica Crônica/terapia
Masculino
Meia-Idade
Monossomia/genética
Síndromes Mielodisplásicas/classificação
Síndromes Mielodisplásicas/epidemiologia
Síndromes Mielodisplásicas/genética
Prognóstico
Modelos de Riscos Proporcionais
Estudos Retrospectivos
Fatores de Risco
Taxa de Sobrevida
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1002/cncr.30632


  8 / 1629 MEDLINE  
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[PMID]:28159971
[Au] Autor:Dogrusöz M; Bagger M; van Duinen SG; Kroes WG; Ruivenkamp CA; Böhringer S; Andersen KK; Luyten GP; Kiilgaard JF; Jager MJ
[Ad] Endereço:Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
[Ti] Título:The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status.
[So] Source:Invest Ophthalmol Vis Sci;58(2):833-842, 2017 Feb 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: The American Joint Committee on Cancer (AJCC) staging system has been validated for use as a prognostic parameter in uveal melanoma (UM). We studied whether adding information regarding chromosome 3 and 8q status further enhances the prognostic value of this staging system. Methods: We retrospectively studied a cohort of 522 patients who had been treated for UM in two different centers between 1999 and 2015. The mean follow-up time was 47.7 months. Cumulative incidence curves were generated and regression analyses were performed for different combinations of AJCC staging and chromosome status. Death due to UM metastases was the primary endpoint. Results: In AJCC stage I cases, only patients with monosomy 3 as well as chromosome 8q gain died due to UM metastases (P < 0.001). Among patients with stage II and III tumors, those with monosomy 3 plus gain of chromosome 8q had the worst prognosis, whereas the clinical outcome of those with only one of these aberrations was intermediate (P < 0.001). Patients without monosomy 3 and 8q gain showed favorable prognosis, independent of their tumor's AJCC stage. In cases with monosomy 3, 8q gain, or both, adding AJCC stage improved the predictive value. Multivariable regression analyses demonstrated that AJCC staging and chromosome 3 and 8q status contain independent information about survival status. Conclusions: Combining information on AJCC staging and chromosome 3 and 8q status allows a more accurate prognostication in UM. We conclude that the prognostic value of the AJCC staging system can be improved by adding information regarding chromosome 3 and 8q status.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 3
Cromossomos Humanos Par 8
Amplificação de Genes
Melanoma/genética
Monossomia
Estadiamento de Neoplasias/métodos
Neoplasias Uveais/genética
[Mh] Termos MeSH secundário: Comitês Consultivos
Idoso
Idoso de 80 Anos ou mais
Dinamarca/epidemiologia
Feminino
Seres Humanos
Masculino
Melanoma/mortalidade
Melanoma/patologia
Meia-Idade
Prognóstico
Análise de Regressão
Estudos Retrospectivos
Análise de Sobrevida
Neoplasias Uveais/mortalidade
Neoplasias Uveais/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170205
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20212


  9 / 1629 MEDLINE  
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[PMID]:28089441
[Au] Autor:Shin SY; Eom HS; Sohn JY; Lee H; Park B; Joo J; Jang JH; Lee MN; Kim JK; Kong SY
[Ad] Endereço:Department of Laboratory Medicine, Center for Diagnostic Oncology and Translational Epidemiology Research Branch, Hospital and Research Institute, National Cancer Center, Goyang, Korea.
[Ti] Título:Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
[So] Source:Clin Lymphoma Myeloma Leuk;17(3):159-164.e2, 2017 Mar.
[Is] ISSN:2152-2669
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM. MATERIALS AND METHODS: Karyotypes were determined using conventional cytogenetics and fluorescence in situ hybridization (FISH). The prognostic effect of monosomies was evaluated by comparison with the clinical factors in MM patients with normal karyotypes. RESULTS: Karyotypes were successfully determined in 167 of the 170 patients with MM. Of these 167 patients, 52 (31.1%) had abnormal karyotypes. Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14, and loss of X detected by metaphase analysis were each associated with reduced progression-free survival (P < .05 for each). Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14 detected by metaphase analysis and FISH-determined RB1 (13q)/TP53 (17p) deletion were each associated with reduced overall survival (P < .05 for each). Multivariable analysis showed that hypodiploidy detected by metaphase analysis was independently prognostic of shorter progression-free survival (P < .05 for each) and that hypodiploidy, monosomy 16, and loss of Y chromosome and FISH-determined TP53 (17p) deletion were associated with reduced overall survival (P < .05 for each). CONCLUSION: In addition to known cytogenetic abnormalities, such as monosomy 13, hypodiploidy, and TP53 (17p) deletion, monosomy 16 and loss of the Y chromosome have adverse prognostic implications in patients with MM.
[Mh] Termos MeSH primário: Monossomia/genética
Mieloma Múltiplo/genética
Mieloma Múltiplo/patologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Deleção Cromossômica
Transtornos Cromossômicos/genética
Cromossomos Humanos Par 13/genética
Cromossomos Humanos Par 16/genética
Cromossomos Humanos Y/genética
Análise Citogenética/métodos
Citogenética/métodos
Intervalo Livre de Doença
Feminino
Seres Humanos
Cariotipagem/métodos
Masculino
Meia-Idade
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170117
[St] Status:MEDLINE


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[PMID]:27894106
[Au] Autor:Dang V; Surampalli A; Manzardo AM; Youn S; Butler MG; Gold JA; Kimonis VE
[Ad] Endereço:Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Calif., USA.
[Ti] Título:Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).
[So] Source:Cytogenet Genome Res;150(1):29-34, 2016.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 15/genética
Cromossomos Humanos Par 19/genética
Síndrome de Prader-Willi/genética
Translocação Genética/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Pontos de Quebra do Cromossomo
Deleção Cromossômica
Seres Humanos
Hiperfagia/genética
Lactente
Recém-Nascido
Masculino
Monossomia/genética
Hipotonia Muscular/genética
Polimorfismo de Nucleotídeo Único/genética
Síndrome de Prader-Willi/fisiopatologia
Convulsões/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170124
[Lr] Data última revisão:
170124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161129
[St] Status:MEDLINE
[do] DOI:10.1159/000452611



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