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The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs. 用SNP芯片检测家犬染色体非整倍体的新方法。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Jaime Garcia-Heras
{"title":"The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>A recent report described a novel use of CMA for the first time in dogs that uncovered three cases of constitutional aneuploidy among 2,053 purebred and mixed-breed dogs. This advance is very significant because cytogenetic analysis by traditional methods in domestic dogs is technically difficult and may not conclusively identify all the abnormalities. This success with CMA testing anticipates the potential to discover more cases of canine aneuploidies as this technology becomes part of routine clinical genetic testing. As a whole, extended use of CMA is likely to uncover a wider range of chromosomal abnormalities that cause canine diseases, characterize in more detail the canine karyotype (normal and abnormal), and provide thorough cytogenomic data of an animal model useful to study human diseases. Since the platform developed for CMA that was used also allows mutation analysis for canine gene diseases, this additional technical feature permits a cost-effective and comprehensive genetic testing for diagnosis in only one step.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"160-162"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258638","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 Signal Pattern for an APL Variant Translocation with a PRKAR1A-RARA Fusion. PRKAR1A-RARA融合在APL变异易位中的FISH信号模式
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Kenian Liu, Bei You, Jessica Duncan, Angela Root, Hailing Zhang
{"title":"FISH Signal Pattern for an APL Variant Translocation with a PRKAR1A-RARA Fusion.","authors":"Kenian Liu,&nbsp;Bei You,&nbsp;Jessica Duncan,&nbsp;Angela Root,&nbsp;Hailing Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Fluorescence in situ hybridization (FISH) is a quick and reliable test to detect the reciprocal t(15;17)(q22;q21) translocation in acute promyeloid leukemia (APL). The typical signal pattern for positive t(15;17) is one red, one green, and two fusion when using a PML/RARA dual fusion translocation probe. However, for variant translocations leading to the fusion of a RARA gene with an alternate gene partner, a RARA break-apart probe should be used to verify the RARA rearrangement. The typical signal pattern for a positive RARA break-apart probe is one red, one green, and one fusion. In this study, we report a rare APL case with a PRKAR1A-RARA fusion gene with a signal pattern distinct from that of t(15;17) and its other variants.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"176-177"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258634","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
The Breakthrough of Accurate Molecular Characterization of MDS by NGS Testing of Cell-Free DNA (cfDNA) Isolated from Peripheral Blood. 外周血游离DNA (cfDNA)的NGS检测在MDS准确分子表征方面的突破。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Jaime Garcia-Heras
{"title":"The Breakthrough of Accurate Molecular Characterization of MDS by NGS Testing of Cell-Free DNA (cfDNA) Isolated from Peripheral Blood.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>A recent NGS study in patients with MDS demonstrated that molecular as well as cytogenetic abnormalities in cfDNA from peripheral blood mirror the profile in bone marrow. Such results give further support to a promising option of testing cfDNA to characterize and monitor MDS instead of using invasive bone marrow biopsies. This breakthrough expands the potential of cfDNA studies in hematologic disorders. It also suggests that the routine testing could incorporate cfDNA in the future once validation and standardization procedures are established and large clinical trials are completed.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 3","pages":"96-99"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40354798","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
Noninvasive Prenatal Testing Leading to a Diagnosis of Hodgkin Lymphoma. 无创产前检查可诊断霍奇金淋巴瘤。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Juli-Anne Gardner, Katherine A Devitt
{"title":"Noninvasive Prenatal Testing Leading to a Diagnosis of Hodgkin Lymphoma.","authors":"Juli-Anne Gardner,&nbsp;Katherine A Devitt","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Noninvasive prenatal testing (NIPT) is a screening method used to detect the most common fetal aneuploidies using cell-free fetal DNA (cffDNA) obtained from maternal blood. Due to the high sensitivity and specificity, low false positive rate, and use as early as 10-weeks' gestation NIPT has been rapidly integrated into prenatal care. While NIPT is an excellent screening tool, the results can be influenced by many factors including placental mosaicism, maternal aneuploidy or mosaicism, and occult maternal malignancy. The diagnosis and treatment of malignancy during pregnancy present many challenges ranging from the use of imaging techniques to the delivery of optimal therapy, weighing the unique risks to both the mother and the fetus. We present a case of a 30-year-old woman diagnosed with Hodgkin lymphoma after NIPT and outline the challenges in diagnosis and treatment of malignancy occurring during pregnancy.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"168-171"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258635","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 Complex Karyotype in a 68-Year-Old Patient With T-PLL. 68岁T-PLL患者的复杂核型。
Journal of the Association of Genetic Technologists Pub Date : 2021-01-01
Grace E Yang, Stephanie Bottomley, Joy King, William Koss, Yuri Lin, Wilson Yeh, Carlos A Tirado
{"title":"A Complex Karyotype in a 68-Year-Old Patient With T-PLL.","authors":"Grace E Yang,&nbsp;Stephanie Bottomley,&nbsp;Joy King,&nbsp;William Koss,&nbsp;Yuri Lin,&nbsp;Wilson Yeh,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>T-cell prolymphocytic leukemia, or T-PLL, is an extremely rare and highly metastatic neoplasm characterized by proliferating mature T-cells and genetic aberrations that often involve chromosome 14. While T-PLL is commonly accompanied by a complex karyotype, there is little analysis on such cases in existing literature and thorough discussions of the less \"characteristic\" cytogenetic mutations are particularly lacking. We present a case study of a 68-year-old male T-PLL patient with marked leukocytosis and a history of T-cell lymphoproliferative disorder. Chromosomal analysis revealed a complex karyotype that included a translocation of both copies of chromosome 14, rearrangements on 9p and 5p, isochromosome 8, deletion 11q, and monosomy 17. Molecular cytogenetic analysis indicated a rearrangement of TRD (14q11.2), loss of the ATM and CDKN2A signals, and gains of the RELN, TES and MYC signals. Many of these mutations have strongly corresponded to poor prognoses in patients with T-PLL and other leukemias, especially when appearing concurrently. However, there are still profound knowledge gaps in our understanding of many genetic aberrations and the significance of marker chromosomes in the context of T-PLL. Considering the lack of consensus on the improvement of patient outcomes in the past two decades as well as the frequency of a complex karyotype in T-PLL, this case study highlights the critical need of continued research efforts in profiling complex cases to provide potential avenues for novel therapeutic targets for T-PLL patients.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 1","pages":"16-23"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25448657","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
Hypodiploidy in AML. AML的低二倍体。
Journal of the Association of Genetic Technologists Pub Date : 2021-01-01
Wilson Yeh, Carlos Tirado
{"title":"Hypodiploidy in AML.","authors":"Wilson Yeh,&nbsp;Carlos Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) is a heterogeneous malignancy of precursor myeloid cells. Identification and understanding of chromosomal abnormalities are key diagnostic and prognostic factors for patients with AML, as they play an important role in risk stratification algorithms. Hypodiploidy, a rare cytogenetic abnormality resulting in a karyotype with fewer than 46 chromosomes, is a rare finding in AML. It is often characterized by the involvement of chromosomes 5, 7, and/or 17, as well as the structural aberration t(8;21)(q22;q22), which is frequently accompanied by the clonal loss of a sex chromosome. Modal number (MN) has been shown to play a role in prognosis, with lower values associated with poorer survival. While hypodiploidy is frequently discussed within the context of acute lymphoblastic leukemia (ALL), its impact has garnered little relevance within AML studies. In this review, we aim to elucidate the characteristics of hypodiploidy in AML, investigate its prognostic significance, and explore its relationship with monosomal karyotypes, a more favored method of risk stratification.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 3","pages":"122-126"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39391275","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
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,&nbsp;Amy Cheng,&nbsp;Fabian Guirales,&nbsp;Wilson Yeh,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p>","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
{"title":"Unintended Consequences: Therapy-Related Acute Myeloid Leukemia.","authors":"Kayla Elliott,&nbsp;Katherine Devitt,&nbsp;Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) is a group of diseases resulting from a clonal expansion of myeloid precursor cells in the bone marrow. Each subtype harbors characteristic clinical, morphologic, and molecular features. AML is most often de novo and arises from somatic mutations causing unchecked proliferation of myeloblasts, but it may also present as a secondary malignancy, often as the result of prior cytotoxic exposure. Here we present a case of therapy-related AML (t-AML) following chemotherapy exposure found to have a characteristic balanced translocation involving 11q23 and outline a potential mechanism of oncogenesis.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 2","pages":"70-74"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39243711","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
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,&nbsp;Fabian Guirales,&nbsp;Diane Zhao,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p>","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,&nbsp;Vanessa Chia,&nbsp;Stephanie Bottomley,&nbsp;Maria Teresa Guardiola,&nbsp;Krystal Soyalp,&nbsp;Dapeng Wang,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p>","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
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