Journal of the Association of Genetic Technologists最新文献_第3页

Pediatric Myelodysplastic Syndrome with SF3B1 Mutation. 小儿骨髓增生异常综合征伴SF3B1突变。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Britt Boles, Matthew Shiel, Juli-Anne Gardner, Joanna L Conant

{"title":"Pediatric Myelodysplastic Syndrome with SF3B1 Mutation.","authors":"Britt Boles, Matthew Shiel, Juli-Anne Gardner, Joanna L Conant","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Patients with Fanconi Anemia (FA) have an increased risk of developing myeloid malignancies, which often precede the diagnosis of FA. We describe a patient with non-specific clinical findings diagnosed with myelodysplastic syndrome (MDS) at 17 years of age. A pathogenic SF3B1 alteration was identified and prompted evaluation for a bone marrow failure syndrome. Chromosomal breakage testing demonstrated an increase in breakage and radial formation; a targeted FA molecular panel identified variants of unknown significance in FANCB and FANCM. To date, reports of pediatric patients, with or without a co-morbid diagnosis of FA, diagnosed with MDS with SF3B1 alteration are rare. We describe a patient with FA diagnosed with MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD, WHO revised 4th edition) with an associated SF3B1 alteration and discuss the new classifications of this entity. In addition, as the knowledge around FA grows, so too does the knowledge about genes associated with FA. We present a novel variant of unknown significance in FANCB, to add to the growing body of literature about genetic alterations identified in individuals with a clinical picture most in keeping with FA.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 2","pages":"69-72"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9572427","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 Key Role of the RPS14 Gene in Neoplasms and Solid Tumors. RPS14基因在肿瘤和实体瘤中的关键作用。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Rodrigo Hurtado, Alexander Ramirez, Leena Nabipur, Josue Flores, Carlos A Tirado

引用次数: 0

Myelodysplastic Syndrome with Excess Blasts 2 (MDS-EB-2): A Historical Overview and Review of Forthcoming Classifications. 骨髓增生异常综合征伴过多母细胞2 (MDS-EB-2):历史回顾和即将到来的分类回顾。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Julian S Tan, Juli-Anne Gardner, Katherine A Devitt, Joanna L Conant

引用次数: 0

A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature. MDS患者的高度复杂的超二倍体核型:一个病例报告和文献复习。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Carlos A Tirado, Rodrigo Hurtado, Joy King, Krystal Eastwood, M Teresa Guardiola, Ari Rao

{"title":"A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature.","authors":"Carlos A Tirado, Rodrigo Hurtado, Joy King, Krystal Eastwood, M Teresa Guardiola, Ari Rao","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22. Also, additional material of unknown origin was found on 3q, 5p, 9p, 11p, 13p, 14p, and 15p; there were two copies of 19p, a deletion of 8q, and numerous unidentified rings and markers were present. This was characterized as: 75~77,XXX,+1,der(1;6)(p10;p10),add(3)(q27),+4,add(5)(p15.1),+6,+8,del(8)(q24.1),+add(9)(p24),-11,add (11) (p13),-13,add(13)(p10),add(14)(p11.2),-15,add(15)(p11.2), -16,-17,+19,add(19)(p13.3)x2,+20,-22, +0~4r,+4~10mar[cp11]/46,XX[8]. The cytogenetic analysis correlates with the concurrent FISH study which was positive for additional signals of EVI1(3q26.2), TAS2R1 (5p15.31), EGR1 (5q31.2), RELN (7q22), TES (7q31) RUNX1T1 (8q21.3), ABL1 (9q34), KMT2A (11q23), PML (15q24.1), CBFB (16q22), RARA (17q21), PTPRT (20q12), MYBL2 (20q13.12), RUNX1 (21q22.12) and BCR (22q11.2). Hyperdiploid karyotypes within the context of complex structural abnormalities are rare events usually associated with a poor prognosis in MDS.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 2","pages":"79-87"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9569420","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

Karyotype Anomalies in Patients with Disorders of Sexual Development. 性发育障碍患者的核型异常。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Monique Morrison, Sangeeta Patel, Sou Saukam, Alycia Willard, Maria Grace Santiago, Diana Martinez, Valerie Miller, Micah Jacobs, Angela Scheuerle, Prasad Koduru

引用次数: 0

JAK2 in Ph-like B-Acute Lymphoblastic Leukemia. JAK2在ph样b型急性淋巴细胞白血病中的作用

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Rodrigo Hurtado, Fabian Guirales, James Glaser, Carlos A Tirado

引用次数: 0

The 2022 Nobel Prize in Physiology or Medicine. 2022年诺贝尔生理学或医学奖。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Jaime Garcia-Heras

{"title":"The 2022 Nobel Prize in Physiology or Medicine.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The Nobel Assembly at the Karolinska Institute awarded the 2022 Nobel Prize in Physiology or Medicine to Svante Pääbo (Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany). This award acknowledged his discoveries about the genomes of extinct hominins (Neandertal man and the Denisovans), the molecular genetic insights of human origin and evolutionary history, and the understanding of phylogenetic relationships between archaic hominins and modern humans. The scientific advances included detection of Neandertal and Denisovan DNA carried by modern humans due to past admixture events, which in turn stimulated active research about the functional and phenotypic significance of such archaic ancestry on non-disease and disease phenotypic features in modern populations. In addition, comparative genomic studies started to delineate the genes and genetic regulation mechanisms that distinguish modern-day humans from the archaic hominins and our immediate ancestors, the anatomically modern humans. These breakthroughs allowed a more thorough understanding of ancestral and modern human population genetics, and propelled the take-off of human paleogenomics as a new scientific discipline in its own right.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 2","pages":"56-67"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9572431","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 : 2023-01-01

Jaime Garcia-Heras

{"title":"FLT3 Gene Involvement in B-cell Acute Lymphoblastic Leukemia (B-ALL).","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: A recent landmark study reported the value of next-generation sequencing (NGS) to uncover pathogenic abnormalities of clinical significance in patients with pediatric B-ALL enrolled in the UKALL2003 clinical trial (Schwab et al., 2023). NGS, as whole genome sequencing (WGS) or targeted NGS (t-NGS), was combined with previous data (cytogenetics, FISH and MLPA) from 351 pediatric patients with precursor B-ALL who lacked a defining genetic abnormality (B-other ALL). This integration of tests classified patients into 15 distinct subtypes, each one characterized by a specific abnormality. The most frequent subtypes were defined by abnormalities of PAX5, DUX4, ZNF384, an ABL class, and an ETV6::RUNX1-like with a gene expression profile similar to the typical ETV6::RUNX1 but without the specific abnormality. Quite conspicuously, WGS detected some classical abnormalities that remained undetected by standard cytogenomic methods. This application of NGS integrated into standard cytogenomic assays is a decisive advance in classifying patients with B-other ALL into distinct subtypes characterized by unique genomic changes. The addition of NGS improved the identification of pathogenic abnormalities and refined the classification as well as the risk stratification to determine clinical prognosis.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 4","pages":"151-155"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138483582","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

Novel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia. 新的ELANE突变与循环中性粒细胞减少症的临床表现相关。

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Kassondra M Little, Joanna L Conant, Katherine A Devitt, Juli-Anne Gardner

引用次数: 0

The Confirmatory Diagnostic Value of Whole Genome Sequencing (WGS) as a Standalone Test for Childhood B-cell ALL: The Results of a NOPHO Trials Cohort. 全基因组测序(WGS)作为儿童b细胞ALL的独立检测的确认性诊断价值:NOPHO试验队列的结果

Journal of the Association of Genetic Technologists Pub Date : 2023-01-01

Jaime Garcia-Heras

{"title":"The Confirmatory Diagnostic Value of Whole Genome Sequencing (WGS) as a Standalone Test for Childhood B-cell ALL: The Results of a NOPHO Trials Cohort.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The latest study with whole genome sequencing (WGS) in pediatric B-ALL validated its use as a standalone test to detect underlying clinically significant genetic abnormalities (Rezayee et al., 2023). This was a retrospective molecular survey in bone marrows previously collected and stored from 88 patients who were enrolled in NOPHO trials. The testing was done through 150 bp paired-end WGS applied to a paired analysis of leukemia-germline samples (L-N) (n=64), and to the analysis of leukemia-only samples (L) (n=88). The results demonstrated a full concordance between both WGS approaches and between the results from WGS and previous standard of care tests (SOCTs). All the mandatory aberrations that require testing in the current ALLTogether trial protocol were identified in 38 patients. In addition, WGS accurately identified the majority of aberrations characteristic of B-other ALL (35/36 cases), copy number abnormalities (CNAs) in eight critical genes or regions, CNAs that characterize the IKZF1plus profile, and the abnormalities in patients with Down syndrome. An adapted methodology was necessary for the detection of DUX4::IGH rearrangements in four patients. A comparison between sequencing coverages of 90X and 30X demonstrated that a lower 30X coverage was sufficient to detect all the relevant abnormalities. This successful testing was accomplished through filtering of WGS data focusing on just genes and genomic regions that are routinely implicated in pediatric B-ALL. As a result, it simplified the extraction of data and facilitated the interpretation of results. Overall, the precise identification of abnormalities that was accomplished by WGS allowed the assignment of patients to distinct genetic subtypes. The conclusion of this study was that WGS is quite reliable and can replace the use of SOCTs to profile pediatric B-ALL.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 4","pages":"162-166"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138483584","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