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Journal of the Association of Genetic Technologists最新文献

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Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing. 利用下一代测序(NGS)描绘多发性骨髓瘤的复杂基因组景观:进展和取代传统基因检测的潜力。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Jaime Garcia-Heras
{"title":"Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Recent NGS studies in multiple myeloma identified in one step and with comparable high accuracy to the concurrent cytogenomic tests the characteristic IGH translocations and copy number abnormalities. In addition, NGS allowed detection of gene mutations. This unprecedented success of a comprehensive genomic analysis suggests the possibility of replacing the separate tests in current use (cytogenetics, FISH, SNPs microarray and mutation analysis) with a single more efficient NGS assay. Down the road, NGS appears to have the potential to improve routine patient care with the clinical application of a detailed genomic profile.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40454867","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 Case of t(1;6)(p12;p11.1), Deletion 5q, and Ring 11 in a Patient with Myelodysplastic Syndrome with Excess Blasts Type 1. t(1;6)(p12;p11.1)、5q缺失和环11在1型骨髓增生异常综合征患者中的一例
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Anna Okabe, David Palencia, David Shabsovich, Alberto Duarte, Angelica Lopez, Carlos A Tirado
{"title":"A Case of t(1;6)(p12;p11.1), Deletion 5q, and Ring 11 in a Patient with Myelodysplastic Syndrome with Excess Blasts Type 1.","authors":"Anna Okabe,&nbsp;David Palencia,&nbsp;David Shabsovich,&nbsp;Alberto Duarte,&nbsp;Angelica Lopez,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>We present the case of a 56-year-old male with myelodysplastic syndrome (MDS) whose bone marrow immunophenotype showed lower positivity for CD45 and positivity for CD34; 8.66% of this population also expressed partial positives for MPO, CD16, CD117, CD36, CD33, and CD71, as well as positives for CD13, HLA-DR, and CD11b. No alterations in the pattern of maturation were seen in CD13 vs CD16 and CD13 vs CD11b. An analysis of a population of mature lymphocytes revealed CD45 high CD3+ in 87.5% of cells, CD45 high CD19+ in 7.6% of cells, and 4.9% NK cells. These results are consistent with a myelodysplastic syndrome with an excess of blasts type 1. Chromosome analysis of the bone marrow revealed an abnormal karyotype with a t(1;6)(p12;p11.1) as well as deletion 5q and a ring 11 in 12 of the 20 metaphase cells examined. The t(1;6)(p12;p11.1) has not been reported in association with any particular hematological malignancy and provides further insight into the range of cytogenetic abnormalities in MDS.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40554401","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
Molecular Cytogenetic Characterization of a Complex Karyotype of a Pediatric Male Patient with B-Acute Lymphoblastic Leukemia. 一名儿童男性b急性淋巴细胞白血病患者复杂核型的分子细胞遗传学特征。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Andrew M Nguyen, Vincent Tse, Katherine Lapp, Grace Yang, Karen Cunnien, Diane Serk, Carlos A Tirado
{"title":"Molecular Cytogenetic Characterization of a Complex Karyotype of a Pediatric Male Patient with B-Acute Lymphoblastic Leukemia.","authors":"Andrew M Nguyen,&nbsp;Vincent Tse,&nbsp;Katherine Lapp,&nbsp;Grace Yang,&nbsp;Karen Cunnien,&nbsp;Diane Serk,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>B-Acute lymphoblastic leukemia (B-ALL) is a malignant disease that arises from several cooperative genetic mutations in a single B-lymphoid progenitor, leading to altered blast cell proliferation, survival and maturation, and eventually the lethal accumulation of leukemic cells. B-ALL accounts for about 12% of all childhood and adult leukemias diagnosed in developed countries, and 60% of those diagnosed are patients younger than 20 years old. As the most common cancer in children (25% of all cases) with a peak incidence in patients between the ages of two and five years, with a second, smaller peak in the elderly, the factors predisposing children and adults to ALL remain largely unknown. Herein we present an eight-year-old male patient diagnosed with B-ALL. Chromosome studies of 20 G-banded metaphases of the bone marrow detected an abnormal male karyotype with loss of 9p [i(9)(q10)] and loss of 17p [der(17)(?::17q11.2->17p11.2::17p11.2->17qter)] within the context of a complex karyotype in eight metaphase cells. Four of these abnormal metaphases showed additional material of unknown origin on chromosome 12 at p11.2 [add(12)(p11.2)]. Metaphase FISH analysis was crucial to characterize such complex chromosomal abnormalities, underscoring the importance of molecular cytogenetics in characterizing complex karyotypes in this hematological malignancy.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37729072","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
T-Cell Acute Lymphoblastic Leukemia: A Cytogenomic Update. t细胞急性淋巴母细胞白血病:细胞基因组学最新进展。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Andrew M Nguyen, Anna Okabe, Vincent Tse, Carlos A Tirado
{"title":"T-Cell Acute Lymphoblastic Leukemia: A Cytogenomic Update.","authors":"Andrew M Nguyen,&nbsp;Anna Okabe,&nbsp;Vincent Tse,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>T-cell acute lymphoblastic leukemia (T-ALL) is a pervasive hematologic malignancy that arises from developmental and genetic abnormalities manifested in lymphoblasts belonging to the T-cell lineage. Responsible for 10-15% of pediatric acute lymphoblastic leukemia (ALL) and 25% of adult ALL patients, T-ALL is characterized not only by cytomorphic features, but also by the aberrant expression of specific genes critical to T-cell development. Such changes in the genome ultimately result in mutational and developmental cascades that alter the chromosomal constitution, the process of which are used to organize T-ALL cases into different subgroups according to specific gene expression signatures. Clinically, comprehensive categorizations are important in risk stratification, assessment, and treatment protocols. Notable genetic subgroups include that of TAL, TLX1, TLX3, HOXA, MYB, ETP and NKX2. Current research also recognizes phenotypic and immunologic categories, such as ALK-positive ALCL, ALK-negative ALCL, BIA ALCL, AITL, and PTCL, NOS, which has revolutionized our understanding of T-cell lymphoma. Furthermore, it has been suggested that most T-ALL patients present with abnormal NOTCH1 genes in addition to mutations involving the JAK-STAT signaling pathway. These abnormalities are associated with the regulatory malfunction of T-cell development as well as that of their respective tumor suppressors and oncogenes. While recent studies have revealed characteristic defects in T-ALL, the interactions between oncogenes and their tumor suppressors with leukemia development are not well known as the signaling pathways involved behind each genetic lesion have yet to be fully explored. Studies involving FISH, RT-PCR, aCGH, and NGS offer novel perspectives to potentially learn more about the pathogenesis and cytogenetics of T-ALL, a field that demands further attention and research.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38034438","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
Acute Myeloid Leukemia with t(6;9)(p23;q34.1); DEK-NUP214: The Pathogenesis and Potential. 急性髓系白血病伴t(6;9)(p23;q34.1);DEK-NUP214:发病机制和潜力。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Juli-Anne Gardner, Liam Donnelly, Rebecca Goetz, Brianna Waller, Katherine Devitt
{"title":"Acute Myeloid Leukemia with t(6;9)(p23;q34.1); DEK-NUP214: The Pathogenesis and Potential.","authors":"Juli-Anne Gardner,&nbsp;Liam Donnelly,&nbsp;Rebecca Goetz,&nbsp;Brianna Waller,&nbsp;Katherine Devitt","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) is caused by the arrested differentiation and dysregulated proliferation of myeloid precursors. Many AMLs harbor genetic abnormalities which determine the molecular mechanisms of the disease and are associated with distinct clinical and pathological features, prognosis, and targeted therapies. We present a case of acute myeloid leukemia with t(6;9)(p23;q34.1) and review the classic clinical presentations and underlying pathogenesis of the disease.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38034437","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
Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3)/ KAT6A-CREBBP in a Patient with an NF1 Germline Mutation and Clinical Presentation Mimicking Acute Promyelocytic Leukemia. 急性髓系白血病伴t(8;16)(p11.2;p13.3)/ KAT6A-CREBBP的NF1种系突变患者的临床表现与急性早幼粒细胞白血病相似
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Liam Donnelly, Casey Rankins, Ximena Jordan Bruno, Wendy McKinnon, Katherine Devitt, Juli-Anne Gardner
{"title":"Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3)/ KAT6A-CREBBP in a Patient with an NF1 Germline Mutation and Clinical Presentation Mimicking Acute Promyelocytic Leukemia.","authors":"Liam Donnelly,&nbsp;Casey Rankins,&nbsp;Ximena Jordan Bruno,&nbsp;Wendy McKinnon,&nbsp;Katherine Devitt,&nbsp;Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP is an uncommon subtype of AML accounting for less than 0.5% of AML cases. AML with t(8;16)/KAT6A-CREBBP has characteristic clinical and pathologic features including disseminated intravascular coagulation (DIC), leukemia cutis, hemophagocytosis, monocytic or myelomonocytic differentiation, is frequently associated with therapy-related AML and has a poor prognosis. We present a classic case of AML with t(8;16)/KAT6A-CREBBP occurring in a patient with both a germline NF1 mutation and recent cytotoxic therapy for embryonal rhabdomyosarcoma.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40545469","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 Case of a Lymphoplasmacytic Lymphoma with Trisomy 12 in the Lymphoid Population and Deletion 13q in the Unstimulated Cell Culture. 淋巴细胞群中淋巴浆细胞性淋巴瘤伴12三体，无刺激细胞培养中缺失13q 1例。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Andrew Reyes, Vincent Tse, Grace Yang, Emily Peng, Karen Cunnien, Katherine Lapp, Carlos A Tirado
{"title":"A Case of a Lymphoplasmacytic Lymphoma with Trisomy 12 in the Lymphoid Population and Deletion 13q in the Unstimulated Cell Culture.","authors":"Andrew Reyes,&nbsp;Vincent Tse,&nbsp;Grace Yang,&nbsp;Emily Peng,&nbsp;Karen Cunnien,&nbsp;Katherine Lapp,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Lymphoplasmacytic lymphoma (LPL, previously termed lymphoplasmacytoid lymphoma) is an uncommon mature B-cell lymphoma usually involving the bone marrow and less commonly the spleen and/or lymph nodes. The majority of patients with LPL have a circulating monoclonal immunoglobulin M (IgM) that can lead to a hyperviscosity syndrome known as Waldenström macroglobulinemia (WM). Although LPL appears to be a sporadic disease in the majority of cases, a familial predisposition is present in some cases. The main chromosomal abnormalities are trisomy 12, trisomy 3, isochromosome 6p, and 14q rearrangements involving IgH among complex karyotypes. Herein, we present an 89-year-old male patient who presents with LPL involving 80% of the marrow cellularity with circulating lymphoma cells. Chromosomal analysis detected two unrelated abnormal clonal populations: one clone has trisomy 12 as the sole abnormality in the stimulated culture, while the other clone has a 13q deletion as the sole abnormality in the cells from the non-stimulated culture. Trisomy 12 is one of the most common abnormalities in B-CLL and it is associated with an intermediate prognosis. Deletions 13q have been identified in B-cell malignancies, non-Hodgkin's lymphomas (NHL), as well as myelodysplastic syndromes and chronic myeloproliferative neoplasms (Heim and Mitelman, 2015). Trisomy 12/13q- FISH slide was reviewed looking at the segmented cells. Fifty segmented cells were scored and a 13q- pattern was detected in 36% (18/50) of the cells suggesting that this finding (the 13q- clone) may be myeloid in origin. Clinicopathologic correlation of these results was recommended.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37729070","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
FISH is Still an Excellent Tool to Monitor High-Grade Lymphomas. FISH仍然是监测高级别淋巴瘤的一个很好的工具。
Journal of the Association of Genetic Technologists Pub Date : 2020-01-01
Anna Okabe, Melody Zaki, Yuri Lin, Justin Yee, William Koss, Maria T Guardiola, Carlos A Tirado
{"title":"FISH is Still an Excellent Tool to Monitor High-Grade Lymphomas.","authors":"Anna Okabe,&nbsp;Melody Zaki,&nbsp;Yuri Lin,&nbsp;Justin Yee,&nbsp;William Koss,&nbsp;Maria T Guardiola,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>A 61-year-old male patient whose core needle biopsies of tissue involved a malignant lymphoid infiltrate composed of intermediate to large cells positive for CD20, PAX5, CD10, BCL6, BCL2, and cMYC, and negative for MUM1. Mitotic activity was brisk with a correspondingly high index of proliferation by Ki67 (~95%) and the patient was diagnosed with a diffuse large B-cell lymphoma, germinal center phenotype. DNA FISH analysis was performed on the paraffin embedded tissue from the right external iliac lymph node using the LSI BCL6 (3q27) and MYC (8q24) dual color break apart probes from Cytocell and the LSI BCL2 (18q21) dual color break apart probe from Abbott. We found rearrangements of BCL6 in 95% of the cells examined, MYC rearrangements in 77% of the cells and BCL2 rearrangements in 95% of the nuclei. These findings allowed us to classify this case as a triple-hit lymphoma now called \"high-grade B-cell lymphomas\" with MYC, BCL2, and/or BCL6 rearrangements.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38351592","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
Interphase FISH for Residual Disease: Proposal for a Qualitative Determination of Rare Events. 残留疾病的间期FISH:罕见事件定性测定的建议。
Journal of the Association of Genetic Technologists Pub Date : 2019-01-01
Helen Lawce
{"title":"Interphase FISH for Residual Disease: Proposal for a Qualitative Determination of Rare Events.","authors":"Helen Lawce","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Interphase fluorescence in situ hybridization (FISH) cutoff values are calculated using various mathematical methods to determine whether abnormalities seen are at reportable (statistically significant) levels. However, for interphase FISH studies of samples obtained from oncology patients who have been transplanted or treated, these cutoff values may result in reporting a false negative result due to the small percentage of residual disease that falls below such a cutoff value. Failure to detect the rare abnormal cells may impact patient care and prognosis. For such situations, the two questions are: is the disease still present, and if so, how prevalent is it? The first question is qualitative and the second is quantitative. Traditionally, only the quantitative parameters have been used for determining reportability. Here we propose a method to account for both qualitative and quantitative evaluations of interphase FISH results.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060513","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
Transient Abnormal Myelopoiesis: A Clue to Trisomy 21. 短暂性骨髓异常:21三体的线索。
Journal of the Association of Genetic Technologists Pub Date : 2019-01-01
Jonathan Wilcock, Katherine Devitt, Juli-Anne Gardner
{"title":"Transient Abnormal Myelopoiesis: A Clue to Trisomy 21.","authors":"Jonathan Wilcock,&nbsp;Katherine Devitt,&nbsp;Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Interphase fluorescence in situ hybridization (FISH) cutoff values are calculated using various mathematical methods to determine whether abnormalities seen are at reportable (statistically significant) levels. However, for interphase FISH studies of samples obtained from oncology patients who have been transplanted or treated, these cutoff values may result in reporting a false negative result due to the small percentage of residual disease that falls below such a cutoff value. Failure to detect the rare abnormal cells may impact patient care and prognosis. For such situations, the two questions are: is the disease still present, and if so, how prevalent is it? The first question is qualitative and the second is quantitative. Traditionally, only the quantitative parameters have been used for determining reportability. Here we propose a method to account for both qualitative and quantitative evaluations of interphase FISH results.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060516","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
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