Journal of the Association of Genetic Technologists最新文献_第5页

Noonan Syndrome: Common Molecular Alterations and the Consequences. 努南综合征:常见的分子改变及其后果。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Casey Rankins, Heather Bradeen, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

A t(8;14)(q24.1;q32) in Plasma Cell Myeloma: A Case Report and Literature Review. A t(8;14)(q24.1;q32)与浆细胞骨髓瘤1例报告及文献复习。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Dapeng Wang, Eduardo Castro, Teresa Guardiola, Krystal Eastwood, Anna Okabe, Diane Zhao, Carlos A Tirado

引用次数: 0

A Novel t(10;22) Translocation Harboring an IGL Gene Deletion in a CLL Patient Transforming to B-PLL with 1q Gain. 一个新的t(10;22)易位包含IGL基因缺失在CLL患者转化为B-PLL与1q增益。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Lei Sun, Vinit V Patil, Nathan Wilgus, Jianhui Yao, Jacqueline R Batanian

{"title":"A Novel t(10;22) Translocation Harboring an IGL Gene Deletion in a CLL Patient Transforming to B-PLL with 1q Gain.","authors":"Lei Sun, Vinit V Patil, Nathan Wilgus, Jianhui Yao, Jacqueline R Batanian","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report on a rare case of B-cell prolymphocytic leukemia (B-PLL) in a patient with a history of chronic lymphocytic leukemia (CLL) that showed a novel translocation t(10;22)(q21;q11.22) and an interstitial deletion of 11q14.1-q23.3 in 2017. The chromosome microarray analysis (CMA) confirmed the 11q22 deletion and revealed a small interstitial deletion of IGL gene. In 2018, the patient presented with worsening lymphocytosis, anemia and thrombocytopenia. The peripheral blood smear revealed an increased prolymphocyte population, which comprised 60.4% of lymphoid cells, establishing a diagnosis of B-cell prolymphocytic leukemia. The CMA and G-banded chromosome analysis showed one additional aberration in the form of 1q gain translocated onto the other homologue 22. These findings suggested clonal evolution of CLL to B-PLL. The most common translocation involving immunoglobulin lambda chain (IGL) in CLL is the t(18;22), followed by t(8;22) and (11;22). An evolution to B-PLL occurs in most cases without gaining additional aberrations. Here, we report for the first time a novel translocation involving IGL with chromosome 10q21 and one 1q gain occurring in a patient with CLL that transformed to B-PLL. Based on the disease progression and this newly developed cytogenetic aberration, our case supports the progressive nature of CLL in the presence of IGL deletion and suggests the pathological role of 1q gain in CLL transformation.","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":"38033888","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

Isochromosome 17q, a Rare Chromosomal Abnormality in a Female Patient with Pancytopenia. 同染色体17q:全血细胞减少症女性患者罕见的染色体异常。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Felix E Laban, David Shabsovich, David Palencia, Pablo Diaz Piedra, David Trejo, Lorena Villalba, Joy King, Carlos A Tirado

{"title":"Isochromosome 17q, a Rare Chromosomal Abnormality in a Female Patient with Pancytopenia.","authors":"Felix E Laban, David Shabsovich, David Palencia, Pablo Diaz Piedra, David Trejo, Lorena Villalba, Joy King, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Myelodysplastic syndromes present with a range of cytogenetic abnormalities that are used to guide diagnosis and management of the disease. Herein, we present the case of a 72-year-old female patient who presented with pancytopenia. Peripheral blood showed Hb 9.0 g/dl, neutrophils less than 1800/mm3, and platelets less than 100,000/mm3. Bone marrow showed erythroid hyperplasia, megaloblastic changes, dyserythropoiesis, multinuclearity, nuclear bridges, nuclear budding, atypical mitoses, and ring sideroblasts. Also, CD34 and CD117 as well as myeloperoxidase positive populations were present. On this basis, a diagnosis of myelodysplastic syndrome was rendered. Chromosome studies showed an abnormal female karyotype with an isochromosome 17q as well as deletion 20q in 17 of the 20 metaphase cells examined. The remaining three cells were cytogenetically normal. Molecular cytogenetic studies using a TP53-specific probe showed only one TP53 signal in 87% of the nuclei examined. An i(17q) as a sole cytogenetic aberration is rare among both MDS and myeloid malignancies in general, but is functionally similar to aberrations of 17p that lead to loss of TP53. This case provides further insight into the spectrum of cytogenetic abnormalities present in MDS.","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":"40545459","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

Unbalanced Whole-Arm Translocation der(18;21)(q10;q10) in Hematological Malignancies. 血液系统恶性肿瘤的不平衡全臂易位(18;21)(q10;q10)。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Manisha Brahmbhatt Sutariya, Robin Dawn Clark, Suzanne Wilson, Leidy Vargas, Jun Wang, Paul Herrmann

引用次数: 0

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

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

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, Vincent Tse, Katherine Lapp, Grace Yang, Karen Cunnien, Diane Serk, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: 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.","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, Anna Okabe, Vincent Tse, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: 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.","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

引用次数: 0