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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":"50 2","pages":"64-68"},"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
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":"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
{"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":"50 3","pages":"101-102"},"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":"50 2","pages":"61-63"},"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":"50 3","pages":"114-126"},"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
16p11.2 Deletion Syndrome. 16p11.2缺失综合征。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Andrew Ruggero, Carlos A Tirado
{"title":"16p11.2 Deletion Syndrome.","authors":"Andrew Ruggero, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>16p11.2 deletion syndrome is a rare genetic abnormality that affects an individual's cognitive abilities. 16p11.2 deletion syndrome is characterized by a loss of region 11.2 on chromosome 16, which includes several genes with various functions. Numerous genes linked to this loss are essential for brain function and neurodevelopment. Notably, genes associated with neuronal development, synaptic function, and brain connection have been found inside the deleted region, including KIF22, TAOK2, and ALDOA, as well as approximately 22 to 25 other additional genes. The diverse clinical presentations noted in patients with 16p11.2 deletion syndrome can be ascribed to the intricate interactions among these mutated genes and their influence on multiple cellular processes. The 16p11.2 deletion syndrome is not observable by conventional cytogenetics. Chromosomal microarray studies are recommended to detect this 16p11.2 deletion.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 4","pages":"183-187"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792898","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
B-Lymphoblastic Leukemia with BCR::ABL1-like Features After Long-term Lenalidomide Therapy. 长期来那度胺治疗后伴有BCR:: abl1样特征的b淋巴母细胞白血病。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Juli-Anne Gardner, Julian Sprague, Patricia T Greipp, Joanna L Conant
{"title":"B-Lymphoblastic Leukemia with BCR::ABL1-like Features After Long-term Lenalidomide Therapy.","authors":"Juli-Anne Gardner, Julian Sprague, Patricia T Greipp, Joanna L Conant","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Lenalidomide, a derivative of thalidomide, is a type of immunomodulatory drug (IMiD) that has been standard therapy for multiple myeloma (MM) and other hematologic malignancies for almost two decades. The success of these drugs in MM has contributed to increased survival of patients and, as a result, patients are at risk for a secondary primary malignancy (SPM), some of which occur as a result of treatment for MM. MM patients have an increased risk for acute myeloid leukemia (AML) and Kaposi sarcoma. In addition, treatment with IMiDs is also associated with an increased risk for myelodysplastic neoplasms (MDS), squamous cell carcinoma of the skin, and, less frequently, acute lymphoblastic leukemia (ALL). We present a case of an elderly male with MM and multiple subsequent skin cancers, who presented with pancytopenia and was diagnosed with B-lymphoblastic leukemia (B-ALL) after 10 years of maintenance lenalidomide therapy.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 4","pages":"188-192"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792905","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":"50 1","pages":"19-23"},"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":"50 2","pages":"69-73"},"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
FISH Still a Very Important Tool to Monitor Breast Cancer: Review of Recent Literature, Alternative Methods, and Proposed Techniques. FISH 仍是监测乳腺癌的重要工具：最新文献、替代方法和拟议技术综述。
Journal of the Association of Genetic Technologists Pub Date : 2024-01-01
Isaak Heon, Alexandra Chu, Jeff Chen, William A Wyatt, Carlos A Tirado
{"title":"FISH Still a Very Important Tool to Monitor Breast Cancer: Review of Recent Literature, Alternative Methods, and Proposed Techniques.","authors":"Isaak Heon, Alexandra Chu, Jeff Chen, William A Wyatt, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Fluorescent in situ hybridization has been the definitive modality in testing for overexpression of the Human Epidermal Growth Factor Receptor 2 (HER2) for decades to guide the appropriate treatment for cancer patients. In more recent years innovation and new techniques have been developed to supplant or even replace FISH as a standard method for biomarker testing. Alternative testing methods such polymerase chain reaction (PCR), next-generation sequencing (NGS), and other in situ hybridization (ISH)-derived techniques such as chromogenic-ISH (CISH) have been shown in multiple publications to have high concordance with FISH in addition to advantages in economics, logistics and practicality to the point where CISH and derived methods appear to have eclipsed FISH as a testing method of choice after immunohistochemistry (IHC). This review assesses the status of FISH compared to other diagnostic techniques such as IHC, CISH, and less common and/or experimental methods. Also addressed are the updates to the guidelines from the American Society of Clinical Oncology (ASCO), College of American Pathologists (CAP), and National Comprehensive Cancer Network (NCCN) regarding FISH and IHC for HER2 testing with the updates reducing the number of equivocal diagnoses in the latest iteration. Though our findings show a constantly changing technological landscape, FISH remains an important primary tool to guide medical treatment and as a solid foundation to build upon for innovation in cancer research.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"50 2","pages":"49-60"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199977","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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