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[PMID]:27004944
[Au] Autor:Al-Rohil RN; Curry JL; Torres-Cabala CA; Nagarajan P; Ivan D; Aung PP; Lyons GF; Bassett RL; Prieto VG; Tetzlaff MT
[Ad] Endereço:Department of Pathology, Section of Dermatopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
[Ti] Título:Proliferation indices correlate with diagnosis and metastasis in diagnostically challenging melanocytic tumors.
[So] Source:Hum Pathol;53:73-81, 2016 Jul.
[Is] ISSN:1532-8392
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The diagnosis of melanocytic lesions remains a formidable challenge in dermatopathology. For diagnostically challenging lesions, ancillary tests are available to inform the diagnosis, including immunohistochemistry and molecular testing (particularly fluorescence in situ hybridization [FISH]). However, the test result that most robustly informs the diagnosis remains controversial. Thirty-seven diagnostically challenging melanocytic lesions from our consultation service were reviewed. Histopathologic, immunohistochemical, and second-generation FISH results (NeoGenomics; probes 6p25, 8q24, 11q13, 9p21, and centromere 9) were correlated with the final consensus diagnosis and clinical follow-up using logistic regression and Fisher exact test. Based on histopathologic and immunohistochemical features, cases were designated as "favor benign" (n=19) or "favor malignant" (n=18) by a consensus group of up to 7 dermatopathologists. The sensitivity of FISH for the diagnosis of melanoma was 39%, and the specificity was 84%. Univariate logistic regression models for a final diagnosis of melanoma showed that only increased Ki-67-positive dermal tumor cells (≥5%; P=.01) significantly correlated with the diagnosis of melanoma. FISH result did not correlate with the final diagnosis (melanoma or nevus; P=.26). Follow-up (range, 8-29months) was available for 35 cases (19 diagnosed as nevus and 16 as melanoma), and metastases (restricted to sentinel lymph nodes) were detected from 5 melanomas (3 FISH negative and 2 FISH positive). Only increased dermal mitotic figures (>1/mm(2)) correlated with metastases to sentinel lymph nodes (P=.04). Thus, in the classification of diagnostically challenging melanocytic lesions, indices of proliferation emerge as the most informative diagnostic adjuncts-correlating with diagnosis and clinical behavior, respectively.
[Mh] Termos MeSH primário: Biomarcadores Tumorais
Proliferação Celular
Cromossomos Humanos 6-12 e X
Antígeno Ki-67/análise
Antígenos Específicos de Melanoma/análise
Melanoma/diagnóstico
Nevo Pigmentado/diagnóstico
Neoplasias Cutâneas/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biomarcadores Tumorais/análise
Biomarcadores Tumorais/genética
Criança
Cromossomos Humanos Par 11
Cromossomos Humanos Par 8
Cromossomos Humanos Par 9
Feminino
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Modelos Logísticos
Metástase Linfática
Masculino
Melanoma/química
Melanoma/genética
Melanoma/secundário
Meia-Idade
Índice Mitótico
Nevo Pigmentado/química
Nevo Pigmentado/genética
Nevo Pigmentado/patologia
Valor Preditivo dos Testes
Prognóstico
Reprodutibilidade dos Testes
Neoplasias Cutâneas/química
Neoplasias Cutâneas/genética
Neoplasias Cutâneas/patologia
Fatores de Tempo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (HMB-45 protein, human); 0 (Ki-67 Antigen); 0 (Melanoma-Specific Antigens)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170930
[Lr] Data última revisão:
170930
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160324
[St] Status:MEDLINE


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[PMID]:25775427
[Au] Autor:Voldgorn YI; Adilgereeva EP; Nekrasov ED; Lavrov AV
[Ad] Endereço:Federal State Budgetary Institution «Research Centre for Medical Genetics¼ of the Russian Academy of Medical Sciences, Russia, 115478, Moscow, Moskvorechie, 1; State Budgetary Educational Institution of Higher Professional Education "Russian National Research Medical University named after N.I. Piro
[Ti] Título:Cultivation and differentiation change nuclear localization of chromosome centromeres in human mesenchymal stem cells.
[So] Source:PLoS One;10(3):e0118350, 2015.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chromosome arrangement in the interphase nucleus is not accidental. Strong evidences support that nuclear localization is an important mechanism of epigenetic regulation of gene expression. The purpose of this research was to identify differences in the localization of centromeres of chromosomes 6, 12, 18 and X in human mesenchymal stem cells depending on differentiation and cultivating time. We analyzed centromere positions in more than 4000 nuclei in 19 mesenchymal stem cell cultures before and after prolonged cultivation and after differentiation into osteogenic and adipogenic directions. We found a centromere reposition of HSAX at late passages and after differentiation in osteogenic direction as well as of HSA12 and HSA18 after adipogenic differentiation. The observed changes of the nuclear structure are new nuclear characteristics of the studied cells which may reflect regulatory changes of gene expression during the studied processes.
[Mh] Termos MeSH primário: Núcleo Celular/metabolismo
Centrômero/metabolismo
Células Mesenquimais Estromais/ultraestrutura
[Mh] Termos MeSH secundário: Diferenciação Celular/genética
Núcleo Celular/ultraestrutura
Centrômero/ultraestrutura
Cromossomos Humanos 6-12 e X
Cromossomos Humanos Par 18
Epigênese Genética
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/metabolismo
Cultura Primária de Células
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1603
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150317
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0118350


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[PMID]:24370181
[Au] Autor:Duarte C; Kobayashi Y; Kawamoto T; Moriyama K
[Ad] Endereço:Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial/Neck Reconstruction, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 113-8549, Japan; Global Center of Excellence (GCOE) Program, International R
[Ti] Título:Relaxin receptors 1 and 2 and nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) mRNAs are expressed in oral components of developing mice.
[So] Source:Arch Oral Biol;59(2):111-8, 2014 Feb.
[Is] ISSN:1879-1506
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Relaxin is a pleiotropic hormone of the insulin-like peptide hormone family that plays an important role in reproductive physiology as well as in fibrosis, angiogenesis, and bone remodelling. It binds to the relaxin family peptide receptors 1 and 2 (Rxfp1 and Rxfp2) and can, in addition and independently, bind and activate the glucocorticoid receptor Nr3c1. Despite the wide-ranging effect of relaxin, the expression patterns of Rxfp1 and 2 during facial development have not been examined. In this study, we aimed to identify the mRNA expression patterns of Rxfp1, Rxfp2, and Nr3c1 in oral tissues during late mouse facial development in order to pinpoint the structures that could be sensitive to relaxin signalling during this period. DESIGN: Rxfp1, Rxfp2, and Nr3c1 mRNAs were identified by in situ hybridization using digoxigenin-labelled riboprobes on coronal sections of mouse heads from embryonic days 13.5 to 18.5. RESULTS: We found that Rxfp1, Rxfp2, and Nr3c1 mRNAs were expressed on the developing maxilla and mandible, Meckel's cartilage, tongue, and tooth primordia between embryonic days 13.5-18.5. CONCLUSIONS: Receptors that bind relaxin were present in developing oral tissues of mice. This finding suggests that relaxin may be involved in the prenatal development of the face.
[Mh] Termos MeSH primário: Cartilagem/embriologia
Ossos Faciais/embriologia
Receptores Acoplados a Proteínas-G/genética
Receptores de Glucocorticoides/genética
Língua/embriologia
Dente/embriologia
[Mh] Termos MeSH secundário: Animais
Cromossomos Humanos 6-12 e X/genética
Embrião de Mamíferos/citologia
Seres Humanos
Hibridização In Situ
Camundongos
Camundongos Endogâmicos C57BL
RNA Mensageiro/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Lgr7 protein, mouse); 0 (NR3C1 protein, mouse); 0 (RNA, Messenger); 0 (RXFP2 protein, mouse); 0 (Receptors, G-Protein-Coupled); 0 (Receptors, Glucocorticoid)
[Em] Mês de entrada:1411
[Cu] Atualização por classe:131227
[Lr] Data última revisão:
131227
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:131228
[St] Status:MEDLINE


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[PMID]:24005437
[Au] Autor:Suyama T; Obara N; Kawai K; Yamada K; Kusakabe M; Kurita N; Nishikii H; Yokoyama Y; Suzukawa K; Hasegawa Y; Noguchi M; Chiba S
[Ad] Endereço:Department of Hematology, University of Tsukuba.
[Ti] Título:[Acute myeloid leukemia possibly originating from the same clone of testicular germ cell tumor].
[So] Source:Rinsho Ketsueki;54(8):764-8, 2013 Aug.
[Is] ISSN:0485-1439
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:This report describes a 30-year-old man with a testicular germ cell tumor, which later developed into acute myeloid leukemia (AML) with a common chromosomal abnormality. Testicular germ cell tumors had developed at the age of 26. He was successfully treated with surgery followed by chemotherapy.Four years after the onset of the germ cell tumor, he developed pancytopenia with elevated serum LDH. More than 95% of the bone marrow was occupied by blastic cells. These cells were CD13+, CD34+ but CD45- and MPO-. Amplification of the short arm of chromosome 12 was recognized by fluorescence in situ hybridization using the blastic cells in the bone marrow and the previous testicular tumor specimen. Because testicular germ cell tumor recurrence and other malignant tumors could be ruled out pathologically, he was diagnosed as having AML.Allogeneic stem cell transplantation from a HLA-matched sibling donor was performed after chemotherapy. As of 19 months after the transplantation, recurrence of neither AML nor testicular tumors has been observed. Because the same genetic abnormality was observed in the testicular germ cell tumor and AML in this case, the possibility of AML having a common origin with the testicular germ cell tumor is indicated.
[Mh] Termos MeSH primário: Cromossomos Humanos 6-12 e X
Leucemia Mieloide Aguda/patologia
Neoplasias Embrionárias de Células Germinativas/patologia
Neoplasias Testiculares/patologia
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Hibridização in Situ Fluorescente
Leucemia Mieloide Aguda/genética
Masculino
Neoplasias Embrionárias de Células Germinativas/genética
Neoplasias Testiculares/genética
[Pt] Tipo de publicação:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1401
[Cu] Atualização por classe:130905
[Lr] Data última revisão:
130905
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130906
[St] Status:MEDLINE


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[PMID]:22876583
[Au] Autor:Cetin Z; Mihci E; Keser I; Karaali K; Berker S; Luleci G
[Ad] Endereço:Department of Medical Biology, School of Medicine, Akdeniz University, Antalya, Turkey.
[Ti] Título:Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.
[So] Source:Genet Couns;23(2):239-47, 2012.
[Is] ISSN:1015-8146
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Aberrações Cromossômicas
Cromossomos Humanos 6-12 e X/genética
Translocação Genética
Trissomia/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Seres Humanos
Hibridização in Situ Fluorescente
Recém-Nascido
Cariótipo
Cariotipagem
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1208
[Cu] Atualização por classe:120810
[Lr] Data última revisão:
120810
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120811
[St] Status:MEDLINE


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[PMID]:22876579
[Au] Autor:Cetin Z; Mihci E; Keser I; Luleci G
[Ad] Endereço:Department of Medical Biology, School of Medicine, Akdeniz University, Antalya, Turkey.
[Ti] Título:Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13).
[So] Source:Genet Couns;23(2):207-14, 2012.
[Is] ISSN:1015-8146
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting from 3:1 segregation of maternal balanced translocation t(10;14)(p15;q13). Proximal partial trisomy of chromosome 14 and subterminal trisomy of the short arm of the chromosome 10 are rare. The present case is the first case with double partial trisomy of these segments resulting from 3:1 segregation of a maternal balanced translocation.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Cromossomos Humanos Par 10/genética
Cromossomos Humanos Par 14/genética
Translocação Genética/genética
Trissomia/genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos 6-12 e X
Saúde da Família
Feminino
Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1208
[Cu] Atualização por classe:120810
[Lr] Data última revisão:
120810
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120811
[St] Status:MEDLINE


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[PMID]:22273477
[Au] Autor:Bierkens M; Wilting SM; van Wieringen WN; van de Wiel MA; Ylstra B; Meijer CJ; Snijders PJ; Steenbergen RD
[Ad] Endereço:Department of Pathology, Unit of Molecular Pathology, VU University Medical Center, PO box 7057, 1007 MB Amsterdam, The Netherlands.
[Ti] Título:HPV type-related chromosomal profiles in high-grade cervical intraepithelial neoplasia.
[So] Source:BMC Cancer;12:36, 2012 Jan 24.
[Is] ISSN:1471-2407
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The development of cervical cancer and its high-grade precursor lesions (Cervical Intraepithelial Neoplasia grade 2/3 [CIN2/3]) result from a persistent infection with high-risk human papillomavirus (hrHPV) types and the accumulation of (epi)genetic host cell aberrations. Epidemiological studies have demonstrated variable CIN2/3 and cancer risks between different hrHPV types. Recent genomic profiling studies revealed substantial heterogeneity in the chromosomal aberrations detected in morphologically indistinguishable CIN2/3 suggestive of varying cancer risk. The current study aimed to investigate whether CIN2/3 with different hrHPV types vary with respect to their chromosomal profiles, both in terms of the number of aberrations and chromosomal loci affected. METHODS: Chromosomal profiles were determined of 43 p16INK4a-immunopositive CIN2/3 of women with long-term hrHPV infection (≥ 5 years). Sixteen lesions harboured HPV16, 3 HPV18, 14 HPV31, 1 HPV33, 4 HPV45, 1 HPV51, 2 HPV52 and 2 HPV58. RESULTS: Unsupervised hierarchical clustering analysis of the chromosomal profiles revealed two major clusters, characterised by either few or multiple chromosomal aberrations, respectively. A majority of 87.5% of lesions with HPV16 were in the cluster with relatively few aberrations, whereas no such unbalanced distribution was seen for lesions harbouring other hrHPV types. Analysis of the two most prevalent types (HPV16 and HPV31) in this data set revealed a three-fold increase in the number of losses in lesions with HPV31 compared to HPV16-positive lesions. In particular, losses at chromosomes 2q, 4p, 4q, 6p, 6q, 8q & 17p and gain at 1p & 1q were significantly more frequent in HPV31-positive lesions (FDR < 0.2). CONCLUSIONS: Chromosomal aberrations in CIN2/3 are at least in part related to the hrHPV type present. The relatively low number of chromosomal aberrations observed in HPV16-positive CIN2/3 suggests that the development of these lesions is less dependent on genetic insult than those caused by other types like HPV31.
[Mh] Termos MeSH primário: Neoplasia Intraepitelial Cervical/genética
Aberrações Cromossômicas
Infecções por Papillomavirus/genética
Neoplasias do Colo do Útero/genética
[Mh] Termos MeSH secundário: Adulto
Alphapapillomavirus/classificação
Neoplasia Intraepitelial Cervical/virologia
Cromossomos Humanos 1-3/genética
Cromossomos Humanos 4-5/genética
Cromossomos Humanos 6-12 e X/genética
Cromossomos Humanos Par 17/genética
Análise por Conglomerados
Feminino
Seres Humanos
Meia-Idade
Infecções por Papillomavirus/virologia
Especificidade da Espécie
Neoplasias do Colo do Útero/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1206
[Cu] Atualização por classe:150128
[Lr] Data última revisão:
150128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120126
[St] Status:MEDLINE
[do] DOI:10.1186/1471-2407-12-36


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[PMID]:20952280
[Au] Autor:Petersson F; Michal M; Vanecek T; Hora M; Trivunic S; Halbhuber Z; Hes O
[Ad] Endereço:Department of Pathology, National University Health System, Singapore.
[Ti] Título:Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene.
[So] Source:Ann Diagn Pathol;15(5):362-9, 2011 Oct.
[Is] ISSN:1532-8198
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 34-year-old pregnant woman with bilateral kidney tumors 9.5 and 2.5 cm in maximum diameter is presented. The larger tumor was clear renal cell carcinoma. The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas. This tumor displayed a complex karyotype. A novel germ line mutation in the VHL gene (c.439A>G/p.I147V) was also identified in this patient.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/genética
Neoplasias Renais/genética
Mutação
Complicações Neoplásicas na Gravidez/genética
Translocação Genética
Proteína Supressora de Tumor Von Hippel-Lindau/genética
[Mh] Termos MeSH secundário: Adulto
Carcinoma de Células Renais/patologia
Carcinoma de Células Renais/cirurgia
Cromossomos Humanos 6-12 e X
Cromossomos Humanos Par 17
Feminino
Seres Humanos
Imuno-Histoquímica
Cariotipagem
Neoplasias Renais/patologia
Neoplasias Renais/cirurgia
Gravidez
Complicações Neoplásicas na Gravidez/patologia
Complicações Neoplásicas na Gravidez/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 2.3.2.27 (Von Hippel-Lindau Tumor Suppressor Protein); EC 6.3.2.- (VHL protein, human)
[Em] Mês de entrada:1112
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:101019
[St] Status:MEDLINE
[do] DOI:10.1016/j.anndiagpath.2010.05.004


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[PMID]:20851799
[Au] Autor:Verdeguer A
[Ad] Endereço:Pediatric Oncology and Pediatric Hematopoietic Cell, Transplantation Unit, Clinical and Translational Investigation Group La Fe, Hospital Universitario Infantil La Fe, Valencia, Spain. verdeguer_amp@gva.es
[Ti] Título:Genetic alterations in children and adolescents with acute myeloid leukaemia.
[So] Source:Clin Transl Oncol;12(9):590-6, 2010 Sep.
[Is] ISSN:1699-3055
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Criança
Pré-Escolar
Cromossomos Humanos 1-3
Cromossomos Humanos 13-15
Cromossomos Humanos 16-18
Cromossomos Humanos 21-22 e Y
Cromossomos Humanos 6-12 e X
Análise Citogenética
Expressão Gênica
Seres Humanos
Lactente
Cariotipagem
Leucemia Mieloide Aguda/tratamento farmacológico
Leucemia Mieloide Aguda/metabolismo
Mutação
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100921
[St] Status:MEDLINE
[do] DOI:10.1007/s12094-010-0563-z


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[PMID]:20670138
[Au] Autor:Horbinski C; Oakley GJ; Cieply K; Mantha GS; Nikiforova MN; Dacic S; Seethala RR
[Ad] Endereço:Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
[Ti] Título:The prognostic value of Ki-67, p53, epidermal growth factor receptor, 1p36, 9p21, 10q23, and 17p13 in skull base chordomas.
[So] Source:Arch Pathol Lab Med;134(8):1170-6, 2010 Aug.
[Is] ISSN:1543-2165
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Skull base chordomas are rare, locally aggressive, notochord-derived neoplasms for which prognostically relevant biomarkers are not well established. OBJECTIVE: To evaluate whether newly discovered molecular alterations in chordomas have prognostic significance similar to what has been described regarding Ki-67 proliferation index. DESIGN: We conducted a retrospective study of 28 cases of primary clival chordomas. RESULTS: Ki-67 proliferation index 5% or more, p53 accumulation, and epidermal growth factor receptor expression were seen in 32%, 44%, and 8% of chordomas, respectively. 1p loss of heterozygosity (LOH) and/or 1p36 hemizygous deletion was seen in 30% of tumors, while 9p LOH and/or 9p21 homozygous deletion was seen in 21% of cases. Loss of heterozygosity at 10q23 and 17p13 were identified in 57% and 52% of cases, respectively. Ki-67 proliferation index 5% or more and 9p LOH were significantly associated with a shorter overall survival, while homozygous deletion at 9p21 via fluorescence in situ hybridization approached significance. No correlation with survival was found for p53 or epidermal growth factor receptor expression, 1p36 hemizygous deletion, or LOH at 1p, 10q23, or 17p13. CONCLUSIONS: Chordomas with elevated Ki-67 proliferation index or deletion at 9p21 may be at risk for a more aggressive clinical course and shorter survival. These biomarkers may thus be used to improve therapeutic stratification.
[Mh] Termos MeSH primário: Cordoma/diagnóstico
Cromossomos Humanos 6-12 e X/genética
Cromossomos Humanos Par 17/genética
Cromossomos Humanos Par 1/genética
Antígeno Ki-67/metabolismo
Receptor do Fator de Crescimento Epidérmico/metabolismo
Neoplasias da Base do Crânio/diagnóstico
Proteína Supressora de Tumor p53/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Biomarcadores Tumorais/metabolismo
Proliferação Celular
Criança
Cordoma/genética
Cordoma/metabolismo
Cordoma/mortalidade
Feminino
Seres Humanos
Perda de Heterozigosidade
Masculino
Meia-Idade
Pennsylvania/epidemiologia
Prognóstico
Estudos Retrospectivos
Neoplasias da Base do Crânio/genética
Neoplasias da Base do Crânio/metabolismo
Neoplasias da Base do Crânio/mortalidade
Taxa de Sobrevida
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; EVALUATION STUDIES; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Ki-67 Antigen); 0 (Tumor Suppressor Protein p53); EC 2.7.10.1 (Receptor, Epidermal Growth Factor)
[Em] Mês de entrada:1008
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:100731
[St] Status:MEDLINE
[do] DOI:10.1043/2009-0380-OA.1



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