BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2023-07-03 DOI:10.1186/s13039-023-00645-1

Anna Płotka, Anna Przybyłowicz-Chalecka, Maria Korolczuk, Zuzanna Kanduła, Błażej Ratajczak, Jolanta Kiernicka-Parulska, Anna Mierzwa, Katarzyna Godziewska, Małgorzata Jarmuż-Szymczak, Lidia Gil, Krzysztof Lewandowski

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Abstract

Background: BCR::ABL1-like acute lymphoblastic leukaemia (BCR::ABL1-like ALL) is characterized by inferior outcomes. Current efforts concentrate on the identification of molecular targets to improve the therapy results. The accessibility to next generation sequencing, a recommended diagnostic method, is limited. We present our experience in the BCR::ABL1-like ALL diagnostics, using a simplified algorithm.

Results: Out of 102 B-ALL adult patients admitted to our Department in the years 2008-2022, 71 patients with available genetic material were included. The diagnostic algorithm comprised flow cytometry, fluorescent in-situ hybridization, karyotype analysis and molecular testing with high resolution melt analysis and Sanger Sequencing. We recognized recurring cytogenetic abnormalities in 32 patients. The remaining 39 patients were screened for BCR::ABL1-like features. Among them, we identified 6 patients with BCR::ABL1-like features (15.4%). Notably, we documented CRLF2-rearranged (CRLF2-r) BCR::ABL1-like ALL occurrence in a patient with long-term remission of previously CRLF2-r negative ALL.

Conclusions: An algorithm implementing widely available techniques enables the identification of BCR::ABL1-like ALL cases in settings with limited resources.

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abl1样急性淋巴细胞白血病:单一机构鉴定潜在治疗靶标病例的经验。

背景:BCR:: abl1样急性淋巴细胞白血病(BCR:: abl1样ALL)的特点是预后较差。目前的努力集中在分子靶点的识别上，以提高治疗效果。下一代测序是一种推荐的诊断方法，但可及性有限。我们介绍了我们在BCR:: abl1样ALL诊断方面的经验，使用了一种简化的算法。结果:在2008-2022年我科收治的102例B-ALL成人患者中，有71例遗传物质可用。诊断方法包括流式细胞术、荧光原位杂交、核型分析和高分辨率熔融分析和Sanger测序的分子检测。我们在32例患者中发现了复发性细胞遗传学异常。其余39例患者进行BCR:: abl1样特征筛查。其中，我们发现6例患者具有BCR:: abl1样特征(15.4%)。值得注意的是，我们记录了crlf2 -重排(CRLF2-r) BCR:: abl1样ALL发生在先前CRLF2-r阴性ALL长期缓解的患者中。结论:一种采用广泛可用技术的算法能够在资源有限的情况下识别BCR:: abl1样ALL病例。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.