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The Molecular Breakthroughs in mRNA Biology and Pharmacology that Paved Progress to Develop Effective mRNA Vaccines Against COVID-19. mRNA 生物学和药理学的分子突破为开发有效的 mRNA 抗 COVID-19 疫苗铺平了道路。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Jaime Garcia-Heras
{"title":"The Molecular Breakthroughs in mRNA Biology and Pharmacology that Paved Progress to Develop Effective mRNA Vaccines Against COVID-19.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>The Nobel Prize in Physiology or Medicine for 2023 awarded to Dr. Katalin Karikó and Dr. Drew Weissman recognized their seminal discoveries in nucleoside modifications of messenger RNA that were pivotal to developing the first mRNA vaccines for clinical use in humans. These novel vaccines were key for prophylactic control of a pandemic caused by the new coronavirus SARS-CoV-2 that emerged abruptly in late 2019/early 2020. This breakthrough capped years of previous research in coronaviruses that included SARS- CoV and MERS-CoV associated with earlier human outbreaks, developments of more efficient formulations to deliver nucleic acids in vivo, and applications of a novel mRNA technology to generate a new generation of better vaccines cost-effectively. Such successful outcomes herald a wide range of advances with this highly adaptable mRNA technology. These include vaccines against existing infectious agents of medical significance but also emerging pathogens, cancer immunotherapies, and protein-replacement therapies, while at the same time, other uses are also under active investigation.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051254","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 Main Genetic-Molecular Aspects of Penile Cancer. 阴茎癌的主要基因分子方面。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Rodrigo Hurtado, Giordano Zender-Poma, Liping Wang, Carlos A Tirado
{"title":"The Main Genetic-Molecular Aspects of Penile Cancer.","authors":"Rodrigo Hurtado, Giordano Zender-Poma, Liping Wang, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Penile cancer, while relatively rare compared to other male malignancies, has seen an increased global incidence, with 36,068 new cases reported in 2020. This condition primarily affects regions with low human development indexes, notably India, China and Brazil. The mainstay of treatment is often partial or total penectomy, which has a profound impact on patients' emotional and social lives. Due to limited options for early diagnosis, non-surgical treatments, restricted healthcare funding and the negative consequences of mutilating surgeries, penile cancer is often considered a neglected disease. Penile cancer exhibits various histological types, but penile squamous cell carcinoma (SCC) is the most prevalent, accounting for 95% of cases worldwide. Multiple risk factors are associated with this condition, largely tied to lifestyle behaviors, such as promiscuous sexual behavior, zoophilia, poor hygiene, phototherapy, smoking and obesity. Human papillomavirus (HPV) infection is a significant etiological factor, particularly in squamous cell carcinomas. The prevalence of HPV in penile neoplasia varies widely, and its association with mortality remains uncertain.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051253","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
Fanconi Anemia, AML, and MDS. 范可尼贫血症、急性髓细胞白血病和骨髓增生异常综合症。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Anirudh Murthy, Carlos A Tirado
{"title":"Fanconi Anemia, AML, and MDS.","authors":"Anirudh Murthy, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>The Fanconi anemia (FA) genes are a family of at least 23 known genes that are spread across many chromosomes and participate in interstrand crosslink (ICLs) DNA repair. In this pathway, FA proteins are involved in sensing sites of ICLs, translocating repair enzymes from the cytoplasm to the nucleus, excising the area of damage, and facilitating repair of the fractured DNA. Mutations in these genes lead to Fanconi anemia, a syndrome characterized primarily by pancytopenia but with associated symptoms involving nearly every organ system; the majority of patients present with dermatological symptoms and growth deficits. Additionally, individuals with Fanconi anemia are known to be predisposed individuals to an increased risk of malignancies, particularly acute myeloid dystrophy and myelodysplastic syndrome, but also in the head, neck, esophagus, reproductive organs, brain, skin, liver, and kidneys. In fact, the cytogenetic aberrations seen in those with FA-associated AML differ from those in typical AML. In contrast, the cytogenetic changes seen in FA-associated MDS are similar to those in typical MDS.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199714","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 Discovery of Common Chromosome Aneuploidies with Medical Implications Through Innovative Analysis of Ancient DNA (aDNA). 通过对古代 DNA（aDNA）的创新分析，发现具有医学意义的常见染色体非整倍体。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Jaime Garcia-Heras
{"title":"The Discovery of Common Chromosome Aneuploidies with Medical Implications Through Innovative Analysis of Ancient DNA (aDNA).","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Two recent studies that re-examined through novel approaches previous shotgun sequencing data from prehistoric/historic Europeans uncovered several autosomal and sex chromosome aneuploidies (Anastasiadou et al., 2024; Rohrlach et al., 2024). These disorders, which are common in contemporary humans, were trisomies 18 and 21, Klinefelter syndrome (47,XXY), 47,XYY syndrome, and mosaic Turner syndrome X/XX. These discoveries about prehistoric/historic occurrence of constitutional chromosomal syndromes with high clinical significance in modern medical genetics are an important breakthrough. They contribute to a more comprehensive genetic delineation of past human populations and give impetus to perform more historic/prehistoric studies to discover other contemporary genetic disorders. A molecular profiling of ancient DNA (aDNA) from human remains added to anthropological and archaeological data may also give a broader picture of the social and historical contexts of individuals who were affected by genetic diseases. These advances in the detection of chromosome aneuploidies and previous discoveries of current monogenic syndromes in archaic hominins also highlight the possibility of detecting other genetic diseases of present-day occurrence in our ancestors. As a result, it might be feasible to delineate the evolutionary history of modern genetic diseases, establishing a timeline of their emergence, patterns of mutations, putative mechanisms of selection, and genomic mechanisms involved.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121278","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 Immunotherapy Targets for Relapsed/Refractory B-ALL: A Literature Review. 复发/难治性 B-ALL 的新型免疫疗法靶点：文献综述。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Jeffery White, Mitchell Clark, Elizabeth Tuller, Chris McCurrin, Lindsay Cline, Carlos A Tirado
{"title":"Novel Immunotherapy Targets for Relapsed/Refractory B-ALL: A Literature Review.","authors":"Jeffery White, Mitchell Clark, Elizabeth Tuller, Chris McCurrin, Lindsay Cline, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>B-cell acute lymphoblastic leukemia (B-ALL) is the most prevalent cancer in United States children. In recent years, immunotherapies using chimeric antigen receptors (CAR T-cells) have improved prognosis for patients with B-ALL. Previous CAR T therapies have used CD19 as a target, but loss of this protein through antigen escape may cause relapse with slim chance of remission. For patients facing relapsed/refractory B-ALL, the need for new targets is evident. In this review, we focus on the KMT2A, IKZF1-related, and DUX4r subgroups of B-ALL, highlighting proven and potential CAR T targets. With a focus on genetics, we discuss chondroitin sulfate proteoglycan 4 as a target in mixed lineage rearranged leukemia and the use of proteomic analysis to locate other B-ALL antigenic surface markers, including the targeting of CD72 within a nanobody-based framework. Additionally, we examine the thymic stromal lymphopoietin receptor as a target in B-ALL with IKAROS family zinc finger 1 deletion across various subgroups. Following this, we propose the adaptation of CD371 as a CAR T-cell target for relapsed/refractory DUX4r B-ALL in the context of promising results from studies in acute myeloid leukemia. Finally, we provide a brief overview of other relevant therapies, including tyrosine kinase inhibitors and a planned universal CAR T for off-the-shelf use, before concluding with a case study that emphasizes the necessity of novel CAR T targets.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121277","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
Comparison of Three FISH Probes Used By FISH Test For 13q Deletion in Chronic Lymphoid Leukemia. 慢性淋巴细胞白血病 13q 缺失 FISH 检测所用三种 FISH 探针的比较
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Tania Quintana Hernandez, Asha Grover, Jamin Liu, Kenian Liu
{"title":"Comparison of Three FISH Probes Used By FISH Test For 13q Deletion in Chronic Lymphoid Leukemia.","authors":"Tania Quintana Hernandez, Asha Grover, Jamin Liu, Kenian Liu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Fluorescence in situ hybridization (FISH) is a reliable method to detect a deletion on chromosome 13q14. Currently, three commercial probes are available for FISH testing in clinical cytogenetics laboratories, RB1, D13S319, and D13S25, with the D13S319 probe most commonly used for 13q deletion. In this study, we compared FISH test results among these three probes in CLL cases with positive 13q deletion. We found that the D13S25 probe set has the highest detection rate of the percentage of the biallelic 13q deletion.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121276","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
ETV6::RUNX1-like Acute Lymphoblastic Leukemia. ETV6::RUNX1样急性淋巴细胞白血病
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Anirudh Murthy, Boyoung Lee, Artemio Zavala, Carlos A Tirado
{"title":"ETV6::RUNX1-like Acute Lymphoblastic Leukemia.","authors":"Anirudh Murthy, Boyoung Lee, Artemio Zavala, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>ETV6::RUNX1-like acute lymphoblastic leukemia (ALL) is a novel B-cell precursor leukemia subtype with similarities to ETV6::RUNX1 ALL without the presence of the ETV6-RUNX1 fusion gene. In this review, we survey the body of literature surrounding this recently categorized B-ALL type, including biomarkers, frequently associated mutations and prognosis of the disease. Identifying novel subcategories of B-ALL through high-throughput genetic analysis techniques allows for better guidance in management and more accurate prognosis.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199713","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
Bladder Cancer, a Cytogenomic Update. 膀胱癌细胞基因组最新进展。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Andrew Ruggero, Mitchell Clark, Alexandria Lewkowski, Rodrigo Hurtado, Carlos A Tirado
{"title":"Bladder Cancer, a Cytogenomic Update.","authors":"Andrew Ruggero, Mitchell Clark, Alexandria Lewkowski, Rodrigo Hurtado, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Bladder cancer is a highly heterogeneous malignancy, affecting 600,000 people annually. Approximately 66% of patients will recur within five years; accordingly, accurate diagnosis and intensive surveillance of bladder cancer are crucial for effective treatment. This update aims to consolidate the genetic-molecular understanding of bladder cancer via investigation of the crucial genetic players in bladder cancer. Chief is the 9p21 locus and the genes FGFR3, RB1, HRAS, TP53, TSC1, TERT, HER2, and PIK3CA. Analysis of these genes has been made possible by the development of non-invasive cytogenetic diagnostic tools such as UroVysion FISH. Novel gene therapy for the genes interferon α2b, HER2, and FGFR3, and immunotherapy targeting of frequently mutated transduction pathways are promising treatments.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121275","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 of a Patient with Therapy-related Core Binding Factor (CBF) Acute Myeloid Leukemia (CBF-AML). 一例与治疗相关的核心结合因子（CBF）急性髓性白血病（CBF-AML）患者。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Elizabeth Lee, Artemio Zavala, Anirudh Murthy, Luke Li, Tahmeena Ahmed, Paula Fernicola, Christina Giordano, Cynthia Poerio, Ann-Leslie Zaslav, Gabriela Evans, Carlos A Tirado
{"title":"A Case of a Patient with Therapy-related Core Binding Factor (CBF) Acute Myeloid Leukemia (CBF-AML).","authors":"Elizabeth Lee, Artemio Zavala, Anirudh Murthy, Luke Li, Tahmeena Ahmed, Paula Fernicola, Christina Giordano, Cynthia Poerio, Ann-Leslie Zaslav, Gabriela Evans, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Identifying therapy-related AML (t-AML) of newly diagnosed acute leukemias is of great interest. Development of t-AML can occur after cytotoxic chemotherapy and/or radiation. We report a case of t-AML with CBFB::MYH11 fusion in a patient with a distant history of treated stage IIIB nodular sclerosing Hodgkin's lymphoma. We present the clinical course of the patient and the methods used to detect and monitor the rearrangement. Core binding factor AML (CBF-AML) after exposure to treatment is considered to be a good prognostic marker. The identification of these favorable AML subtypes such as CBF-AML highlights the importance of identifying genetic alterations, especially with increasing incidences of t-AML due to changes in choice of treatment and prognosis.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051252","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
Ring Chromosome 14 with a Terminal 14q32.33 Deletion. 环状 14 号染色体，末端 14q32.33 缺失。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Juli-Anne Gardner, Nicholas Haslett, Heather G Giguere, Katherine J Anderson
{"title":"Ring Chromosome 14 with a Terminal 14q32.33 Deletion.","authors":"Juli-Anne Gardner, Nicholas Haslett, Heather G Giguere, Katherine J Anderson","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Ring chromosome 14 is a rarely observed chromosomal abnormality characterized by a circular, ring-like appearance in one or both copies of chromosome 14. Ring chromosome 14 syndrome (OMIM #616606) is marked by global developmental delays, drug-resistant epilepsy, microcephaly, and ocular abnormalities. To date, fewer than 100 cases of ring chromosome 14 syndrome have been described in the medical literature. We describe a case of ring chromosome 14 and its clinical presentation in a 10-year-old female, adding to the literature about this rare condition.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199927","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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