Journal of the Association of Genetic Technologists最新文献_第2页

t(8;21)(q23;q22), a Novel Translocation Involving the RUNX1 Gene in a Patient with Acute Myeloid Leukemia. t(8;21)(q23;q22)，涉及RUNX1基因在急性髓性白血病患者中的新易位。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Liang Wang, Elizabeth Sagatys, Hailing Zhang, Kenian Liu

引用次数: 0

Unravelling the Prognostic Significance of a Very Rare Cytogenetic Abnormality Trisomy 7, Trisomy 12 with iso(Xq10) in AML-M5. 揭示AML-M5中一种非常罕见的细胞遗传学异常的预后意义：7三体、12三体伴iso（Xq10）。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Pina J Trivedi, Nidhi Pateli, Krishna Barad, Rashmi Oza

引用次数: 0

Assessing t(6;11)(q27;q23) and Tetrasomy 21 in Down Syndrome Patient: Cytogenetic Implications in Acute Myeloid Leukemia Pathogenesis. 评估唐氏综合征患者的t(6;11)（q27;q23）和21四体：急性髓性白血病发病机制的细胞遗传学意义。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Pina Trivedi, Krishna Barad

{"title":"Assessing t(6;11)(q27;q23) and Tetrasomy 21 in Down Syndrome Patient: Cytogenetic Implications in Acute Myeloid Leukemia Pathogenesis.","authors":"Pina Trivedi, Krishna Barad","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: This case report presents the findings of a genetic analysis using conventional cytogenetics and fluorescence in situ hybridization (FISH) to investigate a chromosomal abnormality in a patient with developmental delay and dysmorphic features. The patient was diagnosed with a 48,XY,t(6;11)(q27;q23) translocation and tetrasomy 21. Chromosomal analysis is essential for the diagnosis and risk stratification of all leukemia patients. Not surprisingly, racial differences in chromosomal aberrations (CA) in hematological malignancies could be found, and CA incidence in leukemia might change over time, possibly due to environmental and lifestyle changes. The t(6;11)(q27;q23) translocation is a significant chromosomal rearrangement linked to acute leukemia, particularly acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). This translocation disrupts normal hematopoietic processes by fusing the KMT2A (MLL) gene on 11q23, a master regulator of gene transcription with the MLLT4 (AF6) gene on 6q27, leading to oncogenic transformation and aggressive disease progression. Conventional cytogenetic analysis revealed the presence of an additional chromosome 21 and a translocation between chromosomes 6 and 11, which were further confirmed by FISH. This case highlights the significance of cytogenetic techniques in identifying complex chromosomal disorders and provides insights into the clinical implications of such abnormalities.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 4","pages":"184-189"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145835500","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

Very Rare Coexistence of Inversion (16), Trisomy 8, and t(9;22) in a Chronic Myeloid Leukemia Patient Progressing to Myeloblastic Crisis. 在进展到成髓细胞危象的慢性髓系白血病患者中，反转（16）、8三体和t（9;22）并存的情况非常罕见。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Dharmesh M Patel, Pina J Trivedi, Krishna D Barad

{"title":"Very Rare Coexistence of Inversion (16), Trisomy 8, and t(9;22) in a Chronic Myeloid Leukemia Patient Progressing to Myeloblastic Crisis.","authors":"Dharmesh M Patel, Pina J Trivedi, Krishna D Barad","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Chronic myeloid leukemia (CML) is typically characterized by the presence of the BCR-ABL1 fusion gene on chomosome 22 resulting from a t(9;22)(q34;q11.2) translocation. We report a case of a 59-year-old female with CML in the chronic phase, initially presenting with thrombocytosis and diagnosed with t(9;22) via conventional karyotyping and fluorescence in situ hybridization (FISH). Nine years and seven months after the initial diagnosis, despite treatment with standard imatinib mesylate therapy (400 mg daily), conventional cytogenetic analysis revealed the emergence of trisomy 8 and a pericentric inversion of chromosome 16 (inv(16) (p13q22)) in cells that already carried the t(9;22). Bone marrow aspiration and biopsy showed 80% blasts, predominantly expressing myeloid markers CD13, CD33, CD117, along with HLA-DR and CD34. Both FISH and conventional karyotyping confirmed the presence of trisomy 8, inversion of chromosome 16, and t(9;22). Additionally, reverse transcription-polymerase chain reaction (RT-PCR) confirmed the presence of the BCR-ABL fusion gene. The coexistence of these genetic abnormalities is often associated with an aggressive clinical course, rapid disease progression, and chemotherapy resistance. Following disease progression, the patient was treated with a combination of hydroxyurea (500 mg) and decitabine (50 mg), and her tyrosine kinase inhibitor (TKI) therapy was switched to bosutinib (400 mg). Despite these interventions, she developed pleural effusions and lung metastases and ultimately passed away approximately seven months after initiating the new treatment due to relapsed disease and infectious complications.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 2","pages":"75-78"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144201012","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 Acute Myeloid Leukemia Patient with a t(6;20)(q13;q11.2) and an Extra Derivative Chromosome 1 Involving Chromosomes 14 and 1. 急性髓系白血病患者t(6;20)（q13;q11.2）和额外的衍生染色体1涉及染色体14和1。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Jacob Rocha, Leah Gallagher, Alexandra Chu, Tahmeena Ahmed, Christina Giordano, Paula Fernicola, Htien Lee, Gabriela Evans, Carlos A Tirado

{"title":"An Acute Myeloid Leukemia Patient with a t(6;20)(q13;q11.2) and an Extra Derivative Chromosome 1 Involving Chromosomes 14 and 1.","authors":"Jacob Rocha, Leah Gallagher, Alexandra Chu, Tahmeena Ahmed, Christina Giordano, Paula Fernicola, Htien Lee, Gabriela Evans, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report the case of a 50-year-old male with acute myeloid leukemia (AML). Chromosome analysis revealed an abnormal karyotype with a t(6;20)(q13;q11.2) and a complex rearrangement leading to an extra derivative chromosome 1 [der(1)(14q32->14p13::1p13->1q44] which was confirmed by metaphase FISH. FISH analysis confirmed an extra copy of 1q25 in 30.5% [61/200] of the nuclei examined. Rearrangements leading to an extra copy of 1q are common in AML, but translocations involving chromosomes 6 and 20 are rarely observed. Both were seen previously in this patient, suggesting persistence of this patient's neoplasm. Only six cases in the literature describe translocations between chromosomes 6 and 20. However, the breakpoints found in our patient [t(6;20)(q13;q11.2)] appear to be unique. Further studies need to be conducted to determine if this is a common/rare abnormality in AML. Also, there was a complex rearrangement involving chromosomes 1 and 14, which was characterized by metaphase FISH, which is still a powerful tool for detecting complex rearrangements in the clinical cytogenetics laboratory.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 2","pages":"80-84"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144201011","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

Hyperdiploidy in AML: A Case Report and Review of the Literature. AML的高二倍体：1例报告及文献回顾。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Carlos A Tirado, Rehan Mian, Leah Gallagher, Roxana Ponce, Htien Lee, Paula Fernicola, Cynthia Poerio, Gabriela Evans, Tahmeena Ahmed

引用次数: 0

A Breakthrough Alongside Prenatal Studies by Non-invasive Prenatal Testing (NIPT): The Prospective Discovery of Maternal Cancers Through the IDENTIFY Study. 非侵入性产前检测（NIPT）在产前研究方面的突破：通过IDENTIFY研究发现产妇癌症的前瞻性。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Jaime Garcia-Heras

{"title":"A Breakthrough Alongside Prenatal Studies by Non-invasive Prenatal Testing (NIPT): The Prospective Discovery of Maternal Cancers Through the IDENTIFY Study.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: A recent prospective study run by the IDENTIFY project at the U.S. National Institutes of Health (NIH) uncovered occult cancers in pregnant or postpartum women who previously received Non-Invasive Prenatal Testing (NIPT) reports of atypical abnormal/ unreportable results that were discordant with the fetal genotype. Among 107/117 patients enrolled who received a full evaluation, 52 (48.6%) had cancers, mostly lymphomas (31/52), colorectal tumors (9/52), and breast cancer (4/52). These results were gathered through standardized research cfDNA sequencing in peripheral blood and a comprehensive cancer screening protocol. Most of these patients (47/52) showed a sequencing pattern in cfDNA of multiple subchromosomal and/or whole gains and losses in multiple chromosomes (≥3). This pattern was interpreted as a high-risk indicator of cancers. Except for whole-body MRI imaging, which was very effective in discovering tumors (49/101 cases), the rest of the cancer screening was not informative. The whole data strengthen the view that NIPT has clinical value for a preliminary identification of pregnant women who may have hidden malignancies and should be referred for a thorough cancer screening. In addition, a uniform follow-up protocol of comprehensive cancer screening allowed the diagnosis of a substantial number of cancers that otherwise would not have been detected. Overall, these results from IDENTIFY, the first via a prospective study, also represent progress in guidelines for improved identification and management of occult malignancies coexisting with pregnancies.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 3","pages":"104-109"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145066386","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

Relapsing IgD Myeloma with Increased Circulating Plasma Cells: Clinical Case Report and Literature Review. 复发性IgD骨髓瘤伴循环浆细胞增多：临床病例报告及文献复习。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Sashank Cherukuri, Luke Li, Samuel Soff, Anna Andrzejczyk, Tahmeena Ahmed

引用次数: 0

The Groundbreaking Discovery of microRNAs and Their Regulation of a New Mechanism of Post-transcriptional Regulation of Gene Expression. microRNAs的突破性发现及其对基因表达转录后调控新机制的调控。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Jaime Garcia-Heras

{"title":"The Groundbreaking Discovery of microRNAs and Their Regulation of a New Mechanism of Post-transcriptional Regulation of Gene Expression.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The Nobel Assembly of the Karolinska Institute (Sweden) awarded the 2024 Nobel Prize in Physiology or Medicine to Dr. Victor Ambros (University of Massachusetts Chan Medical School, Worcester, United States) and Dr. Gary Ruvkun (Massachusetts General Hospital, Boston, United States). This award recognized their joint discoveries of microRNAs and a novel mechanism of post-transcriptional regulation of gene expression in the worm C. elegans. This revolutionary breakthrough demonstrated first that miRNAs provide a refined control of development in C. elegans targeting mRNAs from distinct genes in an orderly fashion. Subsequent discoveries of many more microRNAs in other organisms across a wide evolutionary tree showed that these molecules and the regulatory mechanism of gene expression that they regulate are conserved throughout evolution. With more studies, these advances also triggered a realization that microRNAs play important roles in various critical biological processes (e.g., cellular growth, differentiation, development, cellular physiology, etc.). Other surveys reported abnormalities in microRNAs connected to multiple human diseases which, in turn, generated research interest in potential treatments focused on faulty microRNAs and their evaluation as potential markers of disease. This Nobel Prize caps nearly three decades of unprecedented advances in RNA research that include similar awards. A 2006 Nobel Prize honored the discovery of RNA interference that was initially described in 1998. The 2023 Nobel Prize paid tribute to the first effective human mRNA vaccines. Both advances generated practical applications of high significance including medical uses in humans. For these reasons, there is hope that in due time it will also be the case with microRNAs given their biological potential and many relevant physiological functions that they control.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 1","pages":"5-10"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538124","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

Duplication of Chromosome 22q as a Key Event in Hermaphroditism and Hypospadias. 22q染色体复制是雌雄同体和尿道下裂的关键事件。

Journal of the Association of Genetic Technologists Pub Date : 2025-01-01

Andrew Ruggero, Adrian Peskanoff, Anjali Nambakam, Carlos A Tirado

{"title":"Duplication of Chromosome 22q as a Key Event in Hermaphroditism and Hypospadias.","authors":"Andrew Ruggero, Adrian Peskanoff, Anjali Nambakam, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Hermaphroditism can be triggered by 22q11.2 duplication in 46,XX individuals without SRY, indicating alternate routes regulating sexual differentiation. Hypospadias may be exacerbated by gene overexpression in this area, which may interfere with androgen signaling. Furthermore, located on the 22q13.33 and 22q11.2 regions, respectively, PLXNB2 and CRKL may also be involved in urogenital abnormalities, while SOX10 duplications are associated with sex reversal. The way that TBX1 interacts with the SHH pathway points to an additional role in the development of hypospadias. Despite their contributions, genes such as ZNF74 likely have little effect. Although chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) improve the diagnosis of 22q11.2-associated hermaphroditism, the syndrome's varied expressivity makes clinical evaluation and prediction more difficult. These uncommon rearrangements are caused by nonallelic homologous recombination NAHR between low-copy repeats, which makes diagnosis even more difficult. More study is required to elucidate the underlying mechanisms of these disorders' complicated gene connections and enhance diagnostic precision.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"51 3","pages":"111-118"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145066462","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