性染色体异常对男性慢性髓性白血病患者的影响

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-10-22 DOI:10.1016/j.genrep.2024.102066

Mahitha Mohanan Sreelatha , Narayanan Geetha , Vineetha Radhakrishnan Chandraprabha , Preethi Gopinath , Akhila Raj Thampirajan Vimala Devi , Geetha Raj John Anitha , Amritha Padmakumar , Devipriya Padmakumar , Hariharan Sreedharan

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引用次数: 0

摘要

导言慢性髓性白血病（CML）是一种骨髓增生性疾病，其特征是费城染色体（Ph）由t(9;22)(q34;q11)互变产生。材料与方法进行常规和分子细胞遗传学分析（荧光原位杂交（FISH）），以揭示是否存在费城染色体（Ph）和其他染色体异常（ACA）。结果3例性染色体异常的患者、1例Klinefelter综合征（KS）患者和2例LOY（Y缺失）患者被诊断为CML CP。这三位患者最初都对靶向治疗产生了反应，但在治疗过程中出现了耐药，于是转为二线治疗。在第15个月，KS患者突然转变为BC患者，并出现了四种核型模式的克隆演变。根据米特曼数据库，这是第一例在单个克隆中出现+8、i(17)和+der(22)三种主要途径异常的KS-CML患者。细胞遗传学技术应用于识别 KS 的体质异常、CML 初诊时的 ACA、治疗过程中发现的额外 Ph 以及 BC（暴发性危机）中的克隆演化，有助于正确监测疾病转化，并作为 CML 患者的主要诊断工具，从而改变治疗方案。需要根据染色体异常对 CML 患者进行系统分层。

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Impact of sex chromosome abnormalities in male chronic myeloid leukemia patients

Introduction

Chronic Myeloid Leukemia (CML) is a myeloproliferative disorder characterized by the Philadelphia chromosome (Ph) resulting from the reciprocal translocation t(9;22)(q34;q11). Sex chromosomal abnormalities are found rarely in CML patients.

Materials and methods

Conventional and molecular cytogenetic analysis (Fluorescent In Situ Hybridization (FISH)) were performed to reveal the presence of Ph and additional chromosomal abnormalities (ACA).

Results

Three patients with abnormalities within sex chromosomes, one Klinefelter syndrome (KS) patient and two cases with LOY (Loss of Y) diagnosed with CML CP were included in the study. All three patients initially responded to the targeted therapy, became resistant to their treatment course and switched to 2nd line therapies. In the 15th month, the KS patient abruptly turned into BC and showed clonal evolution with four karyotypic patterns. According to Mitelman databases, this is the first KS-CML patient who showed three major route abnormalities, +8, i(17) and + der(22) in a single clone. Survival analysis showed one patient with LOY chromosome expired on the 48th month of diagnosis.

Conclusion

The application of cytogenetic techniques in identifying the constitutional abnormality of KS, ACA at initial CML diagnosis, revealing of extra Ph during the treatment course and clonal evolution in BC (Blast Crisis) assist the proper monitoring of disease transformation and serves as a major diagnostic tool for CML patients thereby switching the treatment protocols. A systematic stratification of patients according to the chromosomal abnormalities is needed in CML patients.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.