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

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Wilson Yeh, Carlos Tirado

引用次数: 0

c-MYC Amplification in AML. AML中c-MYC扩增。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Ruby Tang, Amy Cheng, Fabian Guirales, Wilson Yeh, Carlos A Tirado

{"title":"c-MYC Amplification in AML.","authors":"Ruby Tang, Amy Cheng, Fabian Guirales, Wilson Yeh, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute myeloid leukemia (AML) is a clonal disorder of myeloid lineage precursors. Identification of cytogenetic aberrations is essential for classification and risk stratification of AML, with many demonstrating unique associations with various clinicopathologic features. One such abnormality is MYC amplification, a rare occurrence identified in less than 1% of AML patients. MYC is most commonly amplified in the form of double minutes, but may also occur via ring and marker chromosomes or homogeneously staining regions. Amplification of MYC often involves various chromosomal aberrations, including trisomies 4 and 6 and aneusomy of the sex chromosomes. In many cases, the presence of MYC amplicons is also associated with other negative prognostic factors, including complex karyotype and advanced age. Although MYC has been extensively investigated as a therapeutic target in various cancers, there are few studies examining the clinical significance of MYC amplification in AML. In this review, we explore recurrent cytogenetic abnormalities and demographic characteristics associated with amplification of MYC in patients with AML and discuss their diagnostic and therapeutic implications.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 4","pages":"202-212"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39829573","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

Unintended Consequences: Therapy-Related Acute Myeloid Leukemia. 意想不到的后果:治疗相关的急性髓性白血病。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Kayla Elliott, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

FLT3 Gene Involvement in B-cell Acute Lymphoblastic Leukemia (B-ALL). FLT3基因与b细胞急性淋巴母细胞白血病(B-ALL)的关系

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Anna Okabe, Fabian Guirales, Diane Zhao, Carlos A Tirado

{"title":"FLT3 Gene Involvement in B-cell Acute Lymphoblastic Leukemia (B-ALL).","authors":"Anna Okabe, Fabian Guirales, Diane Zhao, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The FMS-like tyrosine kinase 3 gene (FLT3) is a receptor tyrosine kinase expressed in early hematopoietic progenitors that play an important role in hematopoietic development. The signaling pathways that are stimulated by the FLT3 protein manage several crucial cellular processes including division, growth, and survival of cells, specifically of hematopoietic progenitor cells. Activating mutations of this gene have been highly discussed in myeloid malignancies, including myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). However, FLT3 mutations are also observed in around 5% of acute lymphoblastic leukemia (ALL) patients. These mutations were usually found to be one of the four types: internal tandem duplications, tyrosine kinase domain mutations, juxtamembrane insertion and deletion, and juxtamembrane point mutation. The presence of FLT3 mutations in pediatric B-ALL patient populations tend to be associated with relapse and poor prognosis. These mutations are also correlated with poor prognosis in adult B-ALL patients. Due to the rarity of FLT3 mutations in B-ALL patients, there have been many challenges in attempts to understand their role in pathogenesis. In this review, we will discuss the most recent literature and trends associated with FLT3 mutations in B-ALL patients in order to elucidate their cytogenetic, molecular, and clinical implications.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 1","pages":"6-14"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25448655","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

An Idic(7)(q11.2) Resulting in Two Copies of 7p and Deletion 7q: A Rare Cytogenetic Event in a Case of Acute Myeloid Leukemia. 导致7p双拷贝和7q缺失的Idic(7)(q11.2):急性髓性白血病病例中一种罕见的细胞遗传学事件。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Emily Peng, Vanessa Chia, Stephanie Bottomley, Maria Teresa Guardiola, Krystal Soyalp, Dapeng Wang, Carlos A Tirado

{"title":"An Idic(7)(q11.2) Resulting in Two Copies of 7p and Deletion 7q: A Rare Cytogenetic Event in a Case of Acute Myeloid Leukemia.","authors":"Emily Peng, Vanessa Chia, Stephanie Bottomley, Maria Teresa Guardiola, Krystal Soyalp, Dapeng Wang, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: A 67-year-old male patient was diagnosed with acute myeloid leukemia (AML) in April 2018. Chromosome analysis showed an abnormal male karyotype with an isodicentric chromosome 7q resulting in deletion 7q and two copies of 7p and a derivative chromosome 18 in 13 of the 20 metaphase cells examined. This karyotype was described as 46,XY,idic(7)(q11.2),der(18)t(1;18)(q23;q21.1)[13]/46,XY[7]. Additionally, subsequent sequencing analysis displayed FLT3-ITD and RUNX1 mutations (data not shown). The bone marrow showed an overwhelming number of blast cells, with co-expression of CD34, CD117, TdT, MPO, CD7, CD13, CD33, CD38, CD19, and HLA-DR. Molecular cytogenetic studies showed a deletion of one RELN/TES (7q22/7q31) signal in 80.5% of nuclei and a gain of a BCR/ABL1 (22q11.2/9q34) signal in 3.5% of interphase nuclei examined. These findings were described as nuc ish(RELN,TES)x1[161/200],(ABL1x2,BCRx3)[7/200], (EVI1,TAS2R1,EGR1,DEK,MYC,NUP214,KMT2A,DLEU1,DLEU2,Clone 163C9,PML,CBFB,RARA,PTPRT,MYBL2,RUNX1)x2[200]. The patient relapsed with AML in September 2019 and underwent treatment. However, all AML treatment options were exhausted by March 2020. An isodicentric chromosome 7 leading to two copies of the short arm of chromosome 7 (7p) and deletion 7q is a rare event in AML and is rarely described in the literature. The key element here is that this specific rearrangement leads to deletion 7q which is a well-known abnormality in AML that places the patient in the Poor/Adverse risk category.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 1","pages":"24-29"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25448656","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 Study of Ring Chromosome 13 in a Pediatric Patient. 一例小儿患者13号环染色体的病例研究。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Anne Okabe, David Palencia, David Trejo-Solis, Alberto Duarte-Martinez, Angélica López-Bernal, Lorena Villalba Salgado, Félix Labán, Carlos A Tirado

引用次数: 0

ASXL1 Gene in AML. AML中的ASXL1基因。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Rodrigo Hurtado, Fabian Guirales, Carlos A Tirado

{"title":"ASXL1 Gene in AML.","authors":"Rodrigo Hurtado, Fabian Guirales, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The ASXL1 (additional sex combs like 1) gene on 20q11 codifies the ASXL1 protein that belongs to protein complexes that play a role in gene expression and epigenetic regulation. ASXL1 is located near the DNMT3B gene and is part of a family of three genes (ASXL1, ASXL2, ASXL3) that are homologues to the Drosophila Asx gene. The ASXL1 gene contains a total of 14 exons and is expressed in the vast majority of hematopoietic cell types. While the specific job of ASXL1 in normal hematopoiesis and the involvement of mutated ASXL1 to the progression of hematopoietic malignancies have not yet been fully set forth, current data studies propose that ASXL1 is characterized as a tumor suppressor gene. Mutations in the ASXL1 gene are observed in myeloid malignancies usually associated with aggressiveness and poor clinical results and were reported first in the year 2009 in myelodysplastic syndromes (MDS). Nevertheless, ASXL1 gene mutations are also found in acute myeloid leukemia (AML) with normal karyotype as well as AML with myelodysplasia-related changes and AML with non-characteristic cytogenetic findings. Herein we examine the involvement of the ASXL1 gene in AML to address the importance of these ASXL1 mutations in the prognostic evaluation of AML.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 2","pages":"60-68"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39243710","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

Applications and Advancements of CRISPR/Cas9 Technology: An Update. CRISPR/Cas9技术的应用与进展

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Anna Okabe, Peter Simonse, Andrew Reyes, Leena Nabipur, Melody Zaki, Carlos Tirado

{"title":"Applications and Advancements of CRISPR/Cas9 Technology: An Update.","authors":"Anna Okabe, Peter Simonse, Andrew Reyes, Leena Nabipur, Melody Zaki, Carlos Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system is an RNA-guided DNA targeting platform widely known for its application in genome editing. Originally derived from the bacterial and archaebacterial defense mechanism against phage infection, it has since been studied and utilized for its potential as a genetic engineering tool and as a therapeutic agent. The Cas9 protein in its standard form induces double-stranded breaks (DSBs) in the target dsDNA sequence; however, modifications of the Cas9 protein have allowed for single-stranded breaks (SSBs) and even epigenetic modifications of gene expression. In comparison with previous methods including RNA interference, Zinc Finger Nucleases, and TAL Effector Nucleases, CRISPR is cheaper, more easily customized, and has a higher fidelity to its target site with fewer off-target effects. Consequently, CRISPR has become a central gene editing technique in a broad variety of research settings, with great potential for applications in human health. In this review, we offer an overview of CRISPR's mechanism of action and recent advancements in the application of CRISPR, as well as discuss literature pertinent to CRISPR applications to human health including many exciting prospective treatments for serious pathologies.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 3","pages":"110-120"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39391698","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 Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale. 急性髓性白血病伴骨髓增生异常相关改变表现为维生素B12缺乏:一个警世故事。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Catherine Gereg, Joanna L Conant, Sakshi Jasra, Katherine A Devitt, Juli-Anne Gardner

引用次数: 0

A t(9;11)(p22;q23) Within the Context of a Complex Karyotype is Associated with a Poor Prognosis in a 19-Year-Old Patient with AML. 复杂核型背景下的t(9;11)(p22;q23)与19岁AML患者的不良预后相关。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Carlos A Tirado, Leena Nabipur, Joy King, Anna Okabe, Fabian Guirales, M Teresa Guardiola, Krystal Eastwood, William Koss

{"title":"A t(9;11)(p22;q23) Within the Context of a Complex Karyotype is Associated with a Poor Prognosis in a 19-Year-Old Patient with AML.","authors":"Carlos A Tirado, Leena Nabipur, Joy King, Anna Okabe, Fabian Guirales, M Teresa Guardiola, Krystal Eastwood, William Koss","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: A 19-year-old male with a history of irritable bowel syndrome presented with progressive fatigue, periorbital petechiae, and abdominal pain for 2-3 weeks. The peripheral blood smear showed leukocytosis and circulating blasts. Elevated PT, PTT, and FDP with normal fibrinogen were found in the DIC panel workup. Abdominal CT suggested splenomegaly. A bone marrow biopsy revealed sheets of monotonous agranular monoblasts nearly completely replaced the hematopoietic elements. Chromosome analysis depicted an abnormal male karyotype with a t(9;11)(p22;q23) in all metaphase cells examined. Four cells showed, in addition, two 8q isochromosomes. FISH analysis was utilized with the MYC (8q24.21) probe from Abbott and the KMT2A (11q23), those of which showed gain on MYC and evidence of KMT2A. These findings correlate with the concurrent conventional cytogenetic findings and were described as nuc ish(MYCx4~9)[182/200],(KMT2Ax2)(5'KMT2A sep 3'KMT2Ax1)[181/200]. Complex karyotypes are associated with poor prognosis. Although only a few pediatric cases exist in the literature, the presence of additional abnormalities put this finding as a poor prognostic marker in AML. Correlation with other clinical data was indicated.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 2","pages":"78-83"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39243709","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