Journal of the Association of Genetic Technologists最新文献_第10页

"Lipoblastoma" has a nice ring to it. “脂肪母细胞瘤”听起来很好听。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

Justin Rueckert, Katherine Devitt, Alexandra Kalof, Juli-Anne Gardner

引用次数: 0

Lost in Interpretation: Evidence of Sequence Variant Database Errors. 在解释中迷失:序列变异数据库错误的证据。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Adam Coovadia

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A Note from the Editor: Duchenne Muscular Dystrophy, Genetics, the FDA and Drug Pricing. 编辑注:杜氏肌萎缩症，遗传学，FDA和药物定价。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Mark Terry

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The t(12;21)(p13;q22) in Pediatric B-Acute Lymphoblastic Leukemia: An Update. 儿童b急性淋巴细胞白血病的t(12;21)(p13;q22):最新进展。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Maximilian Becker, Kristie Liu, Carlos A Tirado

{"title":"The t(12;21)(p13;q22) in Pediatric B-Acute Lymphoblastic Leukemia: An Update.","authors":"Maximilian Becker, Kristie Liu, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is the most common hematological malignancy in children, and the t(12;21)(p13;q22) occurs in approximately 25% of these cases, making it is the most prevalent chromosomal abnormality. The t(12;21) which disrupts hematopoietic differentiation and proliferation, and can be present as a sole abnormality or within the context of a complex karyotype characterized by three or more chromosomal abnormalities. The prognosis of t(12;21) within a complex karyotype is extensively debated. In this review, we discuss the literature regarding t(12;21) and summarize the cytogenetic features found in 363 pediatric cases compiled from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. Cytogenetically, most of the cases had secondary chromosomal abnormalities, about half of which were in the context of a complex karyotype. Trisomy 21 was found to be the most common numerical abnormality in almost one-fifth of the cases, and deletions on chromosome 12 and 6 occurred in 16.9% and 12.5% of cases, respectively. In general, t(12;21) in B-ALL is associated with a favorable prognosis. Herein, we found no significant difference in survival outcome of t(12;21) with a on-complex or complex karyotype.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35322600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cytogenetic Characterization of Myeloid Neoplasms with t(2;3)(p13-25;q25-29): An Analysis of 60 Cases. 髓系肿瘤伴t(2;3)(p13-25;q25-29)的细胞遗传学特征:60例分析

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Alexis V Dowiak, Carlos A Tirado

{"title":"Cytogenetic Characterization of Myeloid Neoplasms with t(2;3)(p13-25;q25-29): An Analysis of 60 Cases.","authors":"Alexis V Dowiak, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Chromosomal translocations involving the short arm of chromosome 2 (p13-25) and the distal part of the long arm of chromosome 3 (q25-29) are rare and still poorly studied to date. These abnormalities are common in myeloid neoplasms and are associated with a poor prognosis. Chromosomal abnormalities within the involved range of bands may contribute to the ectopic expression or formation of fusion genes involving the EVI1 gene, but the exact mechanism by which EVI1 affects leukemogenesis remains unclear. Herein, we report an analysis of 60 patient cases presenting various myeloid malignancies with t(2;3)(p13-25;q25-29) compiled from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. In these studies, this translocation has been reported as a sole abnormality or within the context of a complex karyotype. Among the analysis in which molecular cytogenetic analysis was performed in order to assess the involvement of the EVI1 (ecotropic virus integration site 1 proton homolog) locus (n=19), 16 (84%) confirmed its rearrangement. In 37% of studies, the t(2;3) was seen as a sole abnormality (n=22). The t(2;3) was secondary in 11% of cases (n=4), and in 63% of the cases the t(2;3) had additional chromosomal abnormalities (n=38). Monosomy 7, deletion of the 5q arm, and translocations involving (9;22) were most common abnormalities in order of prevalence, occurring in 29% (n=11), 26% (n=10), and 13% (n=5) of case studies, respectively. These observations in the results of the literature on t(2;3), an anomaly not otherwise molecularly characterized, adds to the discussion of this translocation's approximate incidence in myeloid disease, and specifically in acute myeloid leukemia (AML). The data highlights its nonrandom nature and suggests that it is a part of the myeloid spectrum of disorders. Considering the severe clinical outcome associated with this translocation, this data provides information about a cytogenetic biomarker as well as an understanding of the significance of this set of chromosomal anomalies in the development of myeloid disease.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35128491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The t(12;21)(p13;q22) in Pediatric B-Acute Lymphoblastic Leukemia: An Update. 儿童b急性淋巴细胞白血病的t(12;21)(p13;q22):最新进展。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Maximilian Becker, Kristie Liu, Carlos A Tirado

引用次数: 0

Elucidation of Novel Chromosomal Abnormalities in Pancreatic Cancer: Conventional and Molecular Cytogenetic Characterization of 16 Pancreatic Cell Lines. 胰腺癌中新的染色体异常的阐明:16个胰腺细胞系的常规和分子细胞遗传学特征。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

David Shabsovich, Carlos A Tirado

{"title":"Elucidation of Novel Chromosomal Abnormalities in Pancreatic Cancer: Conventional and Molecular Cytogenetic Characterization of 16 Pancreatic Cell Lines.","authors":"David Shabsovich, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Pancreatic carcinoma is a major cause of cancer-related death in the United States, with a five-year survival rate of approximately 5%. Cytogenetic analysis has identified clinically significant chromosomal abnormalities in numerous malignancies, but it is not utilized in the clinical management of pancreatic carcinoma. We performed conventional and molecular cytogenetic analysis of 16 pancreatic carcinoma cell lines using Giemsa banding and DNA-based fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis revealed a diversity of recurrent and clonal numerical and structural abnormalities in all cell lines analyzed, many of which occurred at loci of genes implicated in pancreatic or related cancers. FISH analysis revealed significant decreases in copy number of numerous tumor-suppressor genes including TP53, CDKN2A, and SMAD4. In some cell lines, amplification of oncogenes HER2 and MYC was also observed. Finally, novel rearrangements involving ARID1A and TGFBR2 were identified in a small subset of cell lines by means of molecular cytogenetic analysis. All in all, these data provide additional insight into recurrent chromosomal abnormalities in pancreatic carcinoma that can potentially be utilized as biomarkers in the clinical management of the disease. Investigation of other aberrations as well as correlation of recurrent ones with clinicopathologic features is warranted in order to assess the utility of cytogenetic analysis of pancreatic carcinoma.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35322601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Molecular and Cytogenetic Update on Non-Small Cell Lung Carcinoma. 非小细胞肺癌的分子和细胞遗传学研究进展。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Maximilian Becker, Lori Ryan, Alexis Dowiak, Carlos A Tirado

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The Milestone of Non-invasive Prenatal Identification of Chromosomal Abnormalities in Fetal Trophoblasts Recovered from Maternal Blood. 无创产前鉴定从母体血液中恢复的胎儿滋养细胞染色体异常的里程碑。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Jaime Garcia-Heras

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MECOM (EVI1) Rearrangements: A Review and Case Report of Two MDS Patients with Complex 3q Inversion/Deletions. MECOM (EVI1)重排:2例MDS患者复杂3q反转/缺失的回顾和病例报告。

Journal of the Association of Genetic Technologists Pub Date : 2017-01-01

Helen Lawce, Elina Szabo, Yumi Torimaru, Craig Davis, Karin Osterberg, Susan Olson, Steve Moore

{"title":"MECOM (EVI1) Rearrangements: A Review and Case Report of Two MDS Patients with Complex 3q Inversion/Deletions.","authors":"Helen Lawce, Elina Szabo, Yumi Torimaru, Craig Davis, Karin Osterberg, Susan Olson, Steve Moore","doi":"","DOIUrl":"","url":null,"abstract":"Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics Laboratory for chromosomes and FISH for a question of progression of myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a deletion of chromosome 3q, one with del(3)(q13q25) and the other with del(3)(q22q25). In light of the prognostic importance of the activation of the MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that occurs with the classic inversion of chromosome 3q, fluorescence in situ hybridization (FISH) was performed using two different probe designs to better define the 3q deletions in the two cases. Using the Abbott Molecular Laboratories dual fusion MECOM/RPN1 probe, interphase and metaphase cells in both patients showed a variant single fusion (orange/green/fusion) signal pattern consistent with fusion and deletion. Using the three-color (red/green/aqua) Cytocell EVI1 probe, interphase cells in both cases showed a split red/green signal with the aqua signal remaining with the green signal. The distance between the split signals was generally less than is usually seen in the commonly described inverted chromosome 3. These findings are therefore consistent with a complex inversion and concurrent deletion/deletions of chromosome 3q. Thus, the deletion 3q seen in G-banded chromosomes from bone marrow from these two patients is most consistent with the activation of MECOM and the inactivation of GATA2.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34957081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0