Journal of the Association of Genetic Technologists最新文献

An Abnormal Clone with a der(12;22)(q10;q10) as a Rare Abnormality Within the Context of dup(1)(q25q43), Deletion of ABL1 and a t(8;21) in a Pediatric Male Patient with Acute Myeloid Leukemia. 在dup(1)（q25q43）、ABL1和t（8;21）缺失的背景下，一名患有急性髓性白血病的儿科男性患者中出现der(12;22)（q10;q10）为罕见异常的异常克隆。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Jonathan Lin, Jaymie Oentoro, Christina Anna Giordano, Jacob Rocha, Tahmeena Ahmed, Pons Materum, Leah J Gallagher, Paula Fernicola, Roxana M Ponce, Htien Lee, Cynthia Poerio, Carlos A Tirado

{"title":"An Abnormal Clone with a der(12;22)(q10;q10) as a Rare Abnormality Within the Context of dup(1)(q25q43), Deletion of ABL1 and a t(8;21) in a Pediatric Male Patient with Acute Myeloid Leukemia.","authors":"Jonathan Lin, Jaymie Oentoro, Christina Anna Giordano, Jacob Rocha, Tahmeena Ahmed, Pons Materum, Leah J Gallagher, Paula Fernicola, Roxana M Ponce, Htien Lee, Cynthia Poerio, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We describe a case of a 13-year-old male who presented with fatigue, loss of appetite, and weakness. Flow cytometric analysis of the bone marrow aspirate demonstrated an abnormal population of myeloid blasts, comprising approximately 48% of total events, suggesting acute myeloid leukemia (AML). The cells express CD45(dim+), CD34(+), CD117(+), CD33(+), CD13(dim+), HLADR(+), CD38(+), CD123(weak+), CD11b(weak+), CD15(dim+), CD64(variable+), CD14(weak+), CD4(dim+), CD56(variable+), CD7(weak+), CD11c(+), CD65(dim+), CD9(-), and MPO(+) suggesting acute myeloid leukemia. This particular pattern with a t(8;21) is seen in 15-18% of AML cases. Although it's in the favorable risk stratification category (NCCN Clinical Practice Guidelines 2023), the presence of complex abnormalities, including 1q+, deletion of 12p, and a der(12;22), suggests genomic instability and poor prognosis. The patient died six months post-transplant.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 2","pages":"40-44"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148195315","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

Chronic Myelomonocytic Leukemia (CMML) with Novel t(1;3)(p36.2;p12): Dual-locus Genomic Disruption Associated with Early Mortality. 慢性髓单细胞白血病（CMML）伴新颖t(1;3)(p36.2;p12)：双位点基因组破坏与早期死亡相关。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Pina J Trivedi, Nidhi Patel, Jigna Joshi, Rashmi Oza

引用次数: 0

A Highly Abnormal Clone in a Pediatric Patient with B-Lymphoblastic Leukemia. 儿童b淋巴细胞白血病患者的高度异常克隆。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Dori Chau, Jaymie Oentoro, Jacob Rocha, Christina Giordano, Tahmeena Ahmed, Carlos A Tirado

{"title":"A Highly Abnormal Clone in a Pediatric Patient with B-Lymphoblastic Leukemia.","authors":"Dori Chau, Jaymie Oentoro, Jacob Rocha, Christina Giordano, Tahmeena Ahmed, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We present a case of a 14-year-old male who presented with loss of appetite, nosebleeds, and fatigue. He visited the clinic, and bone marrow studies were suggested. Bone marrow, core biopsy and clot section showed hypercellularity (80-90%) with sheets of blasts with suspicion of precursor B acute lymphoblastic leukemia (B-ALL). Chromosome analysis of 20 trypsin-Giemsa banded metaphase spreads showed an abnormal male composite karyotype described as 45~47,XY,+1,add(1)(p13),add(1)(q10),add(7)(q36), add(12)(q24.1),der(12)(p13->q24.1::12p13.2->12p13.1::12q24.1->12qter),-13,-15,add(16)(p13.1),-17,+1~3 mar[cp17]/46,XY[3]. Fluorescence in situ hybridization (FISH) was performed, showing one diminished signal for ETV6 in 99% [198/200] of the nuclei examined with the ETV6/RUNX1 probe. ETV6 break-apart probe on interphase nuclei showed one fusion (normal) and one green signal (5'ETV6) in 92% [184/200] of the nuclei. Metaphase FISH with the ETV6 BA probe showed one fusion on the normal chromosome 12 and one green signal (5'ETV6) on the long arm of the derivative chromosome 12. Additionally, metaphase FISH showed a 1q25 signal (green) in one abnormal copy of chromosome 1 as well as 1p36 signal (orange) in the additional abnormal copy of chromosome 1, and a retinoblastoma (Rb) signal (13q14.2) on the derivative chromosome 7. In light of these studies, the karyotype was described as a highly complex karyotype associated with genomic instability and a poor prognosis.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 3","pages":"84-90"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901755","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

Coexistence of Dual Chromosomal Abnormalities t(3;7) and t(9;22) in Case of B-Acute Lymphoblastic Leukemia: a Rare Genomic Profile with Diagnostic and Prognostic Challenges. 双染色体异常共存t（3;7）和t（9;22）的情况下，b急性淋巴细胞白血病：罕见的基因组谱诊断和预后的挑战。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

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

引用次数: 0

The Many Classifications of Acute Myeloid Leukemia with Dysplasia: WHO vs ICC. 急性髓系白血病伴不典型增生的多种分类：WHO vs ICC。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Asmaa El Desoky, Ella Ansell, Joanna L Conant, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

Laboratory Stewardship Rescues Misordered Familial Targeted Cytogenetic Testing Following Proband Genomic Testing: Case Series Review. 先证者基因组检测后，实验室管理挽救了错误的家族性靶向细胞遗传学检测：病例系列回顾。

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Amanda S Openshaw, Rachel M Lasher, Michelle Q Bosworth, Danielle LaGrave, Hiba Risheg, Bo Hong

{"title":"Laboratory Stewardship Rescues Misordered Familial Targeted Cytogenetic Testing Following Proband Genomic Testing: Case Series Review.","authors":"Amanda S Openshaw, Rachel M Lasher, Michelle Q Bosworth, Danielle LaGrave, Hiba Risheg, Bo Hong","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Laboratory genetic counselors (GCs) in cytogenetics oversee a laboratory stewardship (LS) program to review the appropriateness of incoming test orders, which saves both time and healthcare resources. This is especially important for familial cytogenetic testing performed after proband genomic testing, since appropriate testing methodology may vary between families and among family members. We describe three inappropriate orders for familial cytogenetic testing performed after proband genomic testing that were identified and corrected because of the LS process at ARUP Laboratories. Review of familial testing using an LS program avoids false-negative results in at-risk relatives and shortens the time to provide accurate results, enabling relatives to make informed clinical management decisions. This series highlights the importance of seeking genetic advice prior to submitting familial testing samples and including the proband's test results to help the laboratory confirm the appropriateness of test orders. Structural variants (SVs) are identified by proband chromosome analysis, genomic microarray (GMA), and genome sequencing. Healthcare providers without specialized genetics expertise may not realize that SVs can be cryptic by karyotype or undetectable by GMA (when balanced), and that standard FISH probes may fail to detect SVs due to FISH probe localization not spanning the abnormality, even when the FISH probe is designed to target the patient's condition. This series illustrates the benefits of a routine laboratory LS program for familial cytogenetic testing, particularly when cryptic SVs are involved.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 2","pages":"56-60"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148195335","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

Integrated Cytogenetic and FISH Profiling Reveals inv(16) Dominance and Cryptic 11q23 Lesions in AML and ALL: Clinical Significance from a Referral Cohort. 综合细胞遗传学和FISH分析揭示了AML和ALL中inv（16）显性和隐性11q23病变：来自转诊队列的临床意义

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

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

{"title":"Integrated Cytogenetic and FISH Profiling Reveals inv(16) Dominance and Cryptic 11q23 Lesions in AML and ALL: Clinical Significance from a Referral Cohort.","authors":"Pina J Trivedi, Krishna Barad, Nidhi Patel, Rashmi Oza","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Cytogenetic abnormalities play a pivotal role in the diagnosis, classification, risk stratification, and therapeutic decision-making in hematological malignancies. Among these, acute leukemia represents a genetically heterogeneous group in which chromosomal rearrangements and copy number changes significantly influence disease behavior and outcome. The present study describes a comprehensive cytogenetic and fluorescence in situ hybridization (FISH) analysis of 22 patients diagnosed with acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), and chronic myeloid leukemia (CML) in blast crisis. Conventional karyotyping and targeted FISH probes were employed to identify recurrent and rare chromosomal abnormalities, with a special emphasis on inv(16) (p13.1q22), MLL rearrangements, and complex karyotypes. Our findings highlight the indispensable role of integrating cytogenetics and FISH in routine diagnostic workflows, especially in cases with cryptic rearrangements or subclonal abnormalities, thereby underscoring their clinical and prognostic significance.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 2","pages":"50-55"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148195349","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

Cytogenetic Evaluation of APL Cases Using Karyotyping and FISH and Its Correlation with Overall Clinical Outcomes: A Retrospective Laboratory-Based Study. 应用核型和FISH对APL病例进行细胞遗传学评估及其与总体临床结果的相关性：一项基于实验室的回顾性研究

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

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

{"title":"Cytogenetic Evaluation of APL Cases Using Karyotyping and FISH and Its Correlation with Overall Clinical Outcomes: A Retrospective Laboratory-Based Study.","authors":"Pina J Trivedi, Krishna Barad, Nidhi Patel, Rashmi Oza","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute promyelocytic leukemia (APL) is cytogenetically characterized by the t(15;17)(q22;q21) translocation generating the PML::RARA fusion gene. Accurate laboratory diagnosis is essential for disease confirmation and prognostic prediction. In our cytogenetics laboratory, conventional GTG-banded karyotyping and fluorescence in situ hybridization (FISH) are routinely performed for all APL-suspected cases received from the chemotherapy unit of The Gujarat Cancer and Research Institute, Ahmedabad, after bone marrow/IPT requisitions. To document the cytogenetic abnormalities detected in APL-suspected cases using karyotyping and FISH, and to analyze their association with overall patient survival outcomes. This retrospective study included 32 APL-suspected cases referred to our laboratory. Each case underwent conventional cytogenetic analysis and FISH for the PML::RARA fusion. Clinical outcomes (Normal/Recovered, Discharged/Stable, Expired) were obtained from hospital records solely for correlation. Statistical analysis using SPSS included cross-tabulation and chi-square testing to assess the association between FISH status and patient outcomes. FISH detected PML::RARA fusion in 78.1% of cases (25/32), while 21.9% (7/32) exhibited negative or variant fusion patterns. All successful karyotyping studies demonstrated t(15;17), with occasional additional abnormalities. FISH-positive patients showed significantly better recovery rates (60%) compared to none among FISH-negative/variant cases. The association between FISH status and outcome was statistically significant (χ² = 11.165, p = 0.004). Cytogenetic evaluation using karyotyping and FISH provides essential diagnostic and prognostic insight in APL-suspected cases. FISH positivity strongly correlates with favorable outcomes, underscoring its value in routine diagnostic workflows.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 1","pages":"11-16"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147322693","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 Rare t(1;11)(q42;q23) Rearrangement with Trisomy 8 and Trisomy 21 in a Pediatric Acute Myeloid Leukemia Patient with Aberrant CD7 Expression and Jacob Syndrome: Diagnostic Value of Conventional Cytogenetics and Fluorescence in Situ Hybridization in a Rapidly Fatal Case. 罕见的t(1;11)(q42;q23) 8三体重排和21三体重排儿童急性髓系白血病CD7表达异常和Jacob综合征：常规细胞遗传学和荧光原位杂交在快速死亡病例中的诊断价值

Journal of the Association of Genetic Technologists Pub Date : 2026-01-01

Pina J Trivedi, Nidhi Patel, Jigna Joshi, Rashmi Oza

{"title":"A Rare t(1;11)(q42;q23) Rearrangement with Trisomy 8 and Trisomy 21 in a Pediatric Acute Myeloid Leukemia Patient with Aberrant CD7 Expression and Jacob Syndrome: Diagnostic Value of Conventional Cytogenetics and Fluorescence in Situ Hybridization in a Rapidly Fatal Case.","authors":"Pina J Trivedi, Nidhi Patel, Jigna Joshi, Rashmi Oza","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute myeloid leukemia (AML) with KMT2A gene rearrangements has been observed to demonstrate an aggressive biological behavior, especially in pediatric cases. Cytogenetic abnormalities that are extremely uncommon, such as t(1;11)(q21;q23), in addition to other chromosomal abnormalities, can further impact the clinical course of the disease. The aim of the study is to report on an uncommon case of pediatric AML with a t(1;11)(q42;q23) involving a KMT2A gene rearrangement together with other chromosomal abnormalities, emphasizing the importance of performing cytogenetics and FISH studies for hematopoietic workups and an accurate diagnosis. Cytogenetic evaluation was done using conventional karyotype analysis. FISH studies using the KMT2A break-apart probe were used to establish the existence of gene rearrangement. To determine the partner chromosome, whole chromosome FISH painting was performed. Immunophenotypic studies were also performed to determine antigen expression. A two-year-old child diagnosed with AML had multiple chromosomal abnormalities, including t(1;11)(q42;q23), trisomy 8, trisomy 21, and 47,XYYc karyotype. There were four fusion signals for KMT2A obtained from FISH studies with two presenton chromosome 1. Whole chromosome painting provided confirmation for these results. Abnormal expression of CD7 antigen was demonstrated through immunophenotypic evaluation and indicated a poor prognosis. This case study shows that AML with a KMT2A gene rearrangement is associated with an aggressive clinical course and uncommon cytogenetics. It emphasizes the need to use FISH and cytogenetics together for the detection of gene fusions, partner chromosomes, and other cytogenetic aberrations.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"52 3","pages":"80-83"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901703","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 Synchronous Primary Pancreatic DLBCL and Incipient CML. 原发性胰腺大细胞白血病合并早期慢性粒细胞白血病1例。

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

Yu Sonia, Oentoro Jaymie, Guin Rohini, Carlos Tirado, Ahmed Tahmeena

引用次数: 0