Journal of the Association of Genetic Technologists最新文献

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

引用次数: 0

Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR): Cytogenetic Abnormalities and Gene Mutations.

Journal of the Association of Genetic Technologists Pub Date : 2024-01-01

Fares Hassan, Carlos A Tirado

{"title":"Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR): Cytogenetic Abnormalities and Gene Mutations.","authors":"Fares Hassan, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute myeloid leukemia, myelodysplasia-related (AML-MR) is a particularly aggressive and adverse subtype of acute myeloid leukemia, predominantly affecting older adults who often face complex treatment challenges and poor prognoses. The majority of AML-MR patients fail to achieve remission, leading to significantly reduced overall survival rates. In light of these dire outcomes, staying informed about the most recent advancements in AML-MR research and clinical practice is imperative. This review examines the latest World Health Organization classifications of AML-MR, highlighting this disease's prevalent mutations and cytogenetic abnormalities. Furthermore, we explore recent therapeutic developments, including the introduction of targeted therapies and hypomethylating agents, which offer promising avenues for improving patient outcomes. The reclassification of AML-MR underscores the critical role of genetic profiling in elucidating its pathology and guiding therapeutic strategies. Future research should focus on developing personalized treatment approaches that address the intricate genetic and clinical complexities of AML-MR, aiming to enhance survival rates and improve the quality of life for affected patients.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 4","pages":"179-181"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792899","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 MDS Patient with Deletion 20q and a t(9;22)(q34;q11.2): A Case Report and Review of the Literature.

Journal of the Association of Genetic Technologists Pub Date : 2024-01-01

Sam Roush, Tahmeena Ahmed, Michael Schuster, Kevin Wang, Elizabeth Lee, Artemio Zavala, Rehan Mian, Carlos A Tirado

{"title":"An MDS Patient with Deletion 20q and a t(9;22)(q34;q11.2): A Case Report and Review of the Literature.","authors":"Sam Roush, Tahmeena Ahmed, Michael Schuster, Kevin Wang, Elizabeth Lee, Artemio Zavala, Rehan Mian, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report a 76-year-old male patient with myelodysplastic syndrome (MDS) with a t(9;22) and deletion 20q only by FISH. Past medical history is significant for prostate cancer status post radiation therapy and a 28-pack-year smoking history. In 2016, the patient developed a DVT and incidentally was found to have a BCR::ABL1 (p210) by PCR analysis (level of 0.54% of the international scale). Subsequent bone marrow aspiration revealed a hypercellular bone marrow with a small monoclonal B-cell population morphologically consistent with chronic myelogenous leukemia (CML). FISH analysis demonstrated t(9;22) translocation and a loss of 20q12 in 5% of nuclei. The patient was started on nilotinib therapy. Follow-up BCR::ABL1 testing six months later did not detect BCR::ABL1; however, subsequent FISH analysis on bone marrow aspirates performed at one and seven years after initial diagnosis continued to show deletion 20q (1-3% of nuclei). Morphologic features of bone marrow aspirates have demonstrated a CML-type hypercellular bone marrow with myeloid/megakaryocytic hyperplasia and micromegakaryocytes. This case pinpoints the importance of comprehensive study when MDS is present with deletion 20q and a t(9;22), as it can be misdiagnosed as CML. While definitive therapeutic guidelines have yet to be established for this rare presentation of MDS, the use of tyrosine kinase inhibitors is under investigation.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 4","pages":"193-198"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792902","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":"Objectives: 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.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 3","pages":"96-99"},"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

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":"Objectives: 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.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 1","pages":"14-18"},"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

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":"Objectives: 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.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 3","pages":"104-113"},"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

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

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

引用次数: 0