Journal of the Association of Genetic Technologists最新文献_第6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

Expression and Activity of Dysregulated miRNAs in T-ALL Development and Progression. 失调mirna在T-ALL发生和进展中的表达和活性。

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

Vincent Tse, Justin Yee, Carlos A Tirado

{"title":"Expression and Activity of Dysregulated miRNAs in T-ALL Development and Progression.","authors":"Vincent Tse, Justin Yee, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological disease caused by genetic abnormalities that manifest during the development of T-cell precursors, encompassing 15% of pediatric and 25% of adult ALL cases. While T-ALL and its heterogeneous genomic landscape has been well-characterized by establishing different subtypes and risk stratification for patients, the expression and activity of microRNAs (miRNAs) in T-ALL have not been investigated as extensively as cytogenetic and genomic abnormalities. miRNAs are prospective biomarkers that can be critical in improving diagnostic measures for T-ALL, expanding risk categorizations of patients for select therapies, and as target candidates for interventional treatments. Certain miRNAs have been found to be dysregulated as a result of mechanisms underlying T-ALL pathophysiology, including aberrant signaling pathways and epigenetics. Through the implementation of more robust bioinformatics such as miRNA target prediction tools, next-generation sequencing, and standard molecular techniques, recent research has underscored the significant contribution of miRNAs toward the development and progression of T-ALL by altering canonical signaling pathways associated with T-ALL such as NOTCH1, mTOR, and PI3K/AKT. In this review, we summarize the recent findings surrounding the expression and activity of dysregulated miRNAs and how they contribute to the onset and course of disease in T-ALL. As dysregulated miRNAs have been shown to elicit positive and negative responses, the dual effects of miRNAs demand additional research to elucidate miRNAs for target treatments in addition to profiling T-ALL further as a malignant disease.","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":"38688811","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 Significance of BCR-ABL Fusion Gene in Chronic Myeloid Leukemia Patients. BCR-ABL融合基因在慢性髓系白血病患者中的临床意义

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

Shruti Patel, Priyanka Mistry, Kinjal Patel, Jayendra Patel, Prabhudas Patel

{"title":"Clinical Significance of BCR-ABL Fusion Gene in Chronic Myeloid Leukemia Patients.","authors":"Shruti Patel, Priyanka Mistry, Kinjal Patel, Jayendra Patel, Prabhudas Patel","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Introduction: The BCR-ABL fusion gene plays a central role in the pathogenesis of CML. The aim of the present study was to evaluate BCR-ABL fusion gene expression in CML patients and to correlate with clinical outcome. Method: A total of 112 CML patients were enrolled for the current study and expression of the BCR-ABL fusion gene was performed using qRT-PCR. Statistical analysis of SPSS correlated the BCR-ABL gene copy number and ratio with distinct parameters. Result: We observed that BCR-ABL gene CN and ratio were significantly higher in adult CML patients as compared to childhood leukemia (p=0.02 and p=0.04, respectively). BCR-ABL CN and ratio were significantly increased in CML patients with leukocytosis (p=0.01 and p=0.008, respectively) and thrombocytosis (p=0.05 and p=0.008, respectively). Further, CN and ratio were compared with three prognostic scores; Sokal, Hasford and EUTOS score. BCR-ABL CN and ratio were higher in high risk category for Sokal and EUTOS (European Treatment and Outcome Study) scores. Conclusion: The current study strengthens clinical importance molecular response and prognosis of CML patients.","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":"38351591","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 Myeloproliferative Disorder: A Cytogenomic Update. 一过性骨髓增生性疾病:细胞基因组的最新进展。

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

Diane Zhao, David Shabsovich, Emily Peng, Anna Okabe, Grace Yang, Carlos A Tirado

{"title":"Transient Myeloproliferative Disorder: A Cytogenomic Update.","authors":"Diane Zhao, David Shabsovich, Emily Peng, Anna Okabe, Grace Yang, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Transient myeloproliferative disorder (TMD), now more commonly known as transient abnormal myelopoiesis (TAM), is a condition closely associated with Down syndrome. Ninety-five percent of Down syndrome cases occur as a result of chromosomal nondisjunction and are rarely due to mosaicism or translocation. TMD is found exclusively in neonates and is most commonly characterized by trisomy 21, somatic GATA1 mutation, and the increased presence of megakaryoblasts. TMD often does not manifest clinically, but patients may show hepatomegaly, splenomegaly and other symptoms. While TMD is almost always present with trisomy 21, there are not many other cytogenetic abnormalities associated with TMD, with a few rare cases such as monosomy 7 and trisomy 8. Recent studies have suggested liver hematopoietic progenitor cells as the candidate for TMD origin. Furthermore, GATA1 mutations associated with TMD are found to encode for a stop codon in the N-terminal activation region of gene sequences. It has been shown that those mutations can cause overproliferation of megakaryocytes, which can cooperate with Down syndrome cells, which have trisomy 21, in the progression of TMD into acute megakaryoblastic leukemia (AMKL). Since GATA1 mutations are present in all cases of myeloid leukemia of Down Syndrome, monitoring GATA1 in patients with trisomy 21 may assist with earlier diagnosis of TMD. Another likely cause of TMD is the amplification of the RUNX1 transcription factor gene located on chromosome 21. It has been shown that RUNX1 is associated with leukemias of myeloid lineage. While most cases of TMD will spontaneously resolve, some will evolve into acute myeloid leukemia (AML). In this review, we will discuss the cytogenetic, molecular genetics and clinical aspects of TMD.","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":"38033887","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 Findings in a Case of Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN). 1例母浆细胞样树突状细胞瘤的细胞遗传学研究。

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

Carlos A Tirado, John Reinartz, Katherine Lapp, Diane Zhao, Andrew M Nguyen, Kevin Stieglbauer

引用次数: 0

C-MYC Amplification in Chronic Lymphocytic Leukemia: A Case Report and Review of the Literature. 慢性淋巴细胞白血病C-MYC扩增1例报告及文献复习。

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

David Shabsovich, John Reinartz, Jackeline Ham, Laura Pearson, Karen Cunnien, Carlos A Tirado

引用次数: 0