Journal of the Association of Genetic Technologists最新文献_第8页

Molecular Cytogenetic Characterization of a Three-way t(8;14;22)(q24;q32;q11.2) with Involvement of MYC/IGH/IGL in a Case of a Diffuse Large B-cell Lymphoma (DLBCL). 弥漫性大b细胞淋巴瘤(DLBCL)中MYC/IGH/IGL参与的三向t(8;14;22)(q24;q32;q11.2)的分子细胞遗传学特征

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Carlos A Tirado, Karen Cunnien, Katie Lapp, Diane Serk, Jennifer Rankin, John Ewing, Jacqueline Han, David Chung, Andrew Reyes, Kevin Stielgbauer

{"title":"Molecular Cytogenetic Characterization of a Three-way t(8;14;22)(q24;q32;q11.2) with Involvement of MYC/IGH/IGL in a Case of a Diffuse Large B-cell Lymphoma (DLBCL).","authors":"Carlos A Tirado, Karen Cunnien, Katie Lapp, Diane Serk, Jennifer Rankin, John Ewing, Jacqueline Han, David Chung, Andrew Reyes, Kevin Stielgbauer","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Diffuse large B-cell lymphoma (DLBCL) is a non-Hodgkin's lymphoma (NHL) that is the most common and the most aggressive or fast-growing form of NHL. It can lead to death if left untreated. Cytogenetic abnormalities include rearrangements of the IgH and BCL2 genes. Herein we described a t(8;14;22)(q24;q32;q11.2) within the context of a complex karyotype involving MYC/IGH/IGL in a three-way translocation that was characterized by molecular cytogenetics. The t(8;14)(q24;q32) is a recurrent chromosome abnormality described in non-Hodgkin lymphomas (NHL), especially in 80% of Burkitt lymphoma (BL) and diffuse large B-cell lymphomas. The variant t(8;22) (q24;q11) is also seen in these cases. MYC rearrangements have been observed in up to 10% of cases of diffuse large B-cell lymphomas (DLBCL) and is usually associated with a complex pattern of genetic alterations. This particular pattern with IGH-MYC rearrangements within the context of complex karyotypes is seen in diffuse large B-cell lymphomas. Complex karyotypes are associated with genomic instability and a poor prognosis.","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":"37452914","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 Comprehensive Review of Chronic Myeloid Leukemia: An Indian Perspective. 慢性髓性白血病的综合综述:印度的观点。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Priya K Varma, Dharmesh M Patel, Pina J Trivedi, Dhara C Ladani, Nehal A Patel, Mahnaz M Kazi, Darshita H Patel, Prabhudas S Patel

引用次数: 0

Molecular Cytogenetic Characterization of a Case of a Myelodysplastic/Myeloproliferative Neoplasm, Chronic Myelomonocytic Leukemia-1 (CMML-1) with Abnormal Karyotype with an Apparent Monosomy 7 Resulting in Rearrangements Involving Chromosomes 7 and 21. 1例骨髓增生异常/骨髓增生性肿瘤慢性髓单细胞白血病-1 (CMML-1)的分子细胞遗传学特征，核型异常，明显单体7导致7号染色体和21号染色体重排。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

David Chung, Andrew Reyes, Kevin T Stieglbauer, Carlos A Tirado

{"title":"Molecular Cytogenetic Characterization of a Case of a Myelodysplastic/Myeloproliferative Neoplasm, Chronic Myelomonocytic Leukemia-1 (CMML-1) with Abnormal Karyotype with an Apparent Monosomy 7 Resulting in Rearrangements Involving Chromosomes 7 and 21.","authors":"David Chung, Andrew Reyes, Kevin T Stieglbauer, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report the case of a 69-year-old male with peripheral blood findings of persistent anemia, mild absolute monocytosis with mild dysgranulopoiesis, rare circulating blasts, and mild thrombocytopenia. Bone marrow biopsy revealed hypercellular bone marrow (60%) with 3.4% blasts and mild dysgranulopoiesis, morphologically characteristic of myelodysplastic/myeloproliferative neoplasm, chronic myelomonocytic leukemia-1 (CMML-1). Chromosome analysis revealed an abnormal karyotype with an apparent monosomy 7 and the presence of one marker chromosome. FISH analysis of metaphases from destained G-banded slides revealed translocation of D7S486 to a derivative chromosome 21, and two copies of RUNX1 located on an isoderivative chromosome 7. This karyotype was then reinterpreted as an abnormal male karyotype with rearrangements of chromosomes 7 and 21 [ider(7)(q10)t(7;21)(q11.2;q11.2), der(21)t(7;21)], resulting in loss of 7p and gain of 21q, in 19 of the 20 metaphase cells examined. The remaining one metaphase was cytogenetically normal. Extra copies of RUNX1 and abnormalities of chromosome 7 are seen in myeloid disorders including MDS/MPN. Complex rearrangements such as the ones present in this study suggest genomic instability, which is usually associated with a poor prognosis.","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":"37030681","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

Clinical Implications of Simultaneous Occurrence of Variant Philadelphia Translocations in Chronic Myeloid Leukemia. 慢性髓系白血病同时发生变异型费城易位的临床意义。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Pina Trivedi, Priya Varma, Dharmesh Patel, Dhara Ladani, Darshita Patel, Mahnaz Kazi, Nehal Patel, Prabhudas Patel

{"title":"Clinical Implications of Simultaneous Occurrence of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.","authors":"Pina Trivedi, Priya Varma, Dharmesh Patel, Dhara Ladani, Darshita Patel, Mahnaz Kazi, Nehal Patel, Prabhudas Patel","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Up to 90% of cases of chronic myeloid leukemia (CML) are myeloproliferative disorders characterized by a Philadelphia (Ph) chromosome with a classical t(9;22)(q34;q11). Of all CML patients, 5-10% show variant Philadelphia translocations (vPh) and are an area of research interest for their significance in predicting response to various therapies, including tyrosine kinase inhibitors. They are also being studied for prognosticating multi-year survival outcomes in varied patient populations, with conflicting results. We included 238 patients for conventional cytogenetic and fluorescence in situ hybridization study from January 2018 to October 2018. Patients with vPh in CML-Chronic Phase (CML-CP) were analyzed with respect to their demographic parameters, response to imatinib therapy, and survival. Out of 238 patients diagnosed with CML-CP, 8 patients (3.3%) showed vPh. The most common chromosomes involved in these translocations were 1, 2, 3, 4, 7, 11 and 12. In almost all the cases with variant Ph chromosome, the BCR-ABL rearrangement was detected by molecular methods or by fluorescence in situ hybridization (FISH). All patients were treated with imatinib as a first-line therapy. Rates of complete hematological response, complete cytogenetic response, and major molecular response were similar in all patients with classical Ph and variant Ph chromosome. Our data suggest that prognosis of CML patients with vPh in CML has no significant effect in predicting response to imatinib or in predicting survival.","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":"37060515","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

Duplication of the Band q21q27 on the Long Arm of Chromosome 3: A Rare Cytogenetic Event in B-Chronic Lymphocytic Leukemia (B-CLL). 3号染色体长臂q21q27带的重复:b -慢性淋巴细胞白血病(B-CLL)中一种罕见的细胞遗传学事件。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Diane Zhao, Andrew M Nguyen, Kevin T Stieglbauer, Carlos A Tirado

{"title":"Duplication of the Band q21q27 on the Long Arm of Chromosome 3: A Rare Cytogenetic Event in B-Chronic Lymphocytic Leukemia (B-CLL).","authors":"Diane Zhao, Andrew M Nguyen, Kevin T Stieglbauer, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We present the case of an 83-year-old female with a long history of B-CLL followed by observation only. Twelve years after her diagnosis of CLL, routine follow-up chromosome analysis of peripheral blood revealed an abnormal metaphase with a dup(3)(q21q27) in 18 of 20 metaphase cells. To further characterize the abnormal chromosome 3, fluorescence in situ hybridization (FISH) was performed using the Abbott BCL6 probe for 3q27. An additional BCL6 signal was observed in 303 of the 500 interphase nuclei examined. The ISCN was reported as 46,XX,dup(3)(q21q27)[1]/46,XX[2]. nuc ish(5'BCL6, 3'BCL6)x3(5'BCL6 with 3'BCL6x3)[303/500]. This abnormality was seen again in one of three available metaphases in a follow-up peripheral blood study five years later, consistent with persistent disease. Molecular genetic analysis identified the presence of somatic hypermutation of the immunoglobulin heavy chain gene variable region (IGH-V), which is recognized as an independent favorable prognostic marker in CLL. FISH analysis was negative for loss of SEC63 (6q21), amplification of MYC (8q24), loss of ATM (11q22.3), trisomy 12, loss of D13S319 (13q14.3), loss of TP53 (17p13.1) and CCND1/MYEOV IGH rearrangement [t(11;14)(q13;q32.30)]. Partial trisomy 3 is a relatively rare event seen in B-CLL, with commonly overrepresented segments including the q21-23 region and the q25-29 region of the long arm of chromosome 3, as well as changes leading to gains of 3q26- q27. The clinical significance of this finding in B-CLL is uncertain; however, our patient remains well and has not required therapy 17 years after her initial diagnosis.","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":"37060517","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 Novel Case of ABL2 Chromosomal Rearrangement in High-Risk B-Cell Acute Lymphoblastic Leukemia. 高危b细胞急性淋巴母细胞白血病ABL2染色体重排的新病例。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Yogita Rohil, Dhanlaxmi Shetty, Gaurav Narula, Shripad D Banavali

引用次数: 0

Epigenetics of B-ALL. B-ALL的表观遗传学。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Jordan A Helmer, Rocio Iraburu, Carlos A Tirado

引用次数: 0

Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype. Shox和Awe:一个不寻常表型的变异特纳综合征病例。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Clayton LaValley, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

The Ups and Downs When TLX-1 and Other Transcriptional Modulators Abound: A Case of T-ALL with a Transcriptionally Complex Set of Mutations. 当TLX-1和其他转录调节剂大量存在时的起起落落:一组转录复杂突变的T-ALL病例。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Liam Donnelly, Katherine Devitt, Juli-Anne Gardner

{"title":"The Ups and Downs When TLX-1 and Other Transcriptional Modulators Abound: A Case of T-ALL with a Transcriptionally Complex Set of Mutations.","authors":"Liam Donnelly, Katherine Devitt, Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute T-lymphoblastic leukemia (T-ALL) is a malignancy of immature T-cells in children and adults and although it occurs less frequently than B-ALL, it carries a worse prognosis, especially after relapse. Molecular characterization and subtyping of T-ALL has begun to reveal vital insights into the complex biology of T-ALL and has prognostic and therapeutic implications. We present a case of a 19-year-old male who was found to have an early cortical phenotype T-ALL with multiple cytogenetic and somatic mutations including t(10;14) TLX-1 translocation, 9p22 CDKN2A deletion and missense mutations in PHF6, NOTCH-1, and FBXW7. Characterization of the significance of these mutations reveals that PHF6 mutations occur more frequently in adult males in association with TLX-1 translocations and early cortical phenotypes with NOTCH-1 activating mutations. We show mechanistically that these alterations occur in concert with one another to drive cell growth, cell survival and cell cycle progression. While still in development, further characterization of T-ALL is essential to provide more prognostic and therapeutically useful information.","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":"37452849","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 Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar. 1例女性继发性闭经患者46、X、+mar细胞系核型的分子细胞遗传学特征。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

A Okabe, A Reyes, M Murphy, L Thomson, A M Nguyen, K Cunnien, D Serk, C A Tirado

{"title":"Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar.","authors":"A Okabe, A Reyes, M Murphy, L Thomson, A M Nguyen, K Cunnien, D Serk, C A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Disorders of sex development (DSD) include a group of conditions in which genotypes do not correlate with the typical male and female phenotypes. Numerical and structural abnormalities involving both autosomes and sex chromosomes have been observed in DSD. Specifically, deletions, duplications, and translocations involving specific genes as well as point mutations and less common aberrations have been implicated in the pathogenesis of these conditions. Finally, recent advances in analytical tools, namely chromosomal microarrays and sequencing methods, have greatly enhanced the precision with which DSD are genetically characterized and phenotypically correlated. Herein we report a case of a 24-year-old female patient who presented with secondary amenorrhea. Cytogenetic studies of her peripheral blood showed an abnormal clone with 45,X in three cells and the other was initially observed by chromosome analysis as 46,X,+mar in 27 cells. Molecular cytogenetics were performed to characterize the marker chromosome that showed two copies of the SRY, two copies of the heterochromatin Yq12, and two copies of the Y centromere Yp11.1-q11.1 on the marker chromosome, resulting in the identification of an isodicentric Y chromosome. Females with a 46,XY karyotype have gonadal dysgenesis and typically present as mosaic, along with a 45,X cell line. Some show small deletions of the short arm of the Y chromosome. Further studies based on the clinical picture, as well as possible prophylactic gonadectomy due to an increased risk of gonadal malignancy, gonadoblastoma or dysgerminoma, are suggested. Genetic counseling was recommended.","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":"37452917","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