Cytogenetics and genomics in CML and other myeloproliferative neoplasms

IF 2.2 4区 医学 Q3 HEMATOLOGY Best Practice & Research Clinical Haematology Pub Date : 2024-04-03 DOI:10.1016/j.beha.2024.101552
Hans H. Kreipe , Brigitte Schlegelberger
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Abstract

Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the BCR::ABL1 fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and ABL1 kinase mutations. In the other MPN subtypes the additional mutations besides driver gene mutations in JAK2, MPL and CALR have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.

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CML 和其他骨髓增生性肿瘤的细胞遗传学和基因组学
慢性髓性白血病的定义是存在费城易位 t(9;22),导致 BCR::ABL1 融合。其他骨髓增殖性肿瘤(MPN)亚型也存在典型的染色体异常,但这些异常并不代表 MPN 的特定实体。根据世卫组织的分类,这些实体之间的区别仍然是基于细胞学、组织病理学和分子研究结果的整合。CML 进展到加速期和增生期通常是由额外的染色体异常和 ABL1 激酶突变引起的。在其他骨髓增生性疾病亚型中,除了 JAK2、MPL 和 CALR 的驱动基因突变外,其他突变对疾病的进展倾向也有决定性影响。此外,驱动基因突变和风险传递附加突变的获得顺序似乎也起着重要作用。在此,我们回顾了在诊断和疾病监测期间应评估的 CML 和 MPN 的细胞遗传学和分子变化。
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来源期刊
CiteScore
4.20
自引率
0.00%
发文量
42
审稿时长
35 days
期刊介绍: Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.
期刊最新文献
Erratum to “Special issue 37.2 and 37.3 Genetics and Function of HLA and immune-related genes in transplantation and cellular immunotherapy” [Best Pract Res Clin Haematol (2024) 101588] Editorial Board From clones to immunopeptidomes: New developments in the characterization of permissive HLA-DP mismatches in hematopoietic cell transplantation Relevance of donor-specific HLA antibodies in hematopoietic cell transplantation HLA structure and function in hematopoietic-cell transplantation
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