爆炸危机
相伴的
突变
基因
癌症研究
生物
遗传学
医学
髓样
内科学
作者
Songphol Tungjitviboonkun,Pawitthorn Wachirapornpruet,Sorrawit Unsuwan
出处
期刊:Research Square - Research Square
日期:2024-03-26
标识
DOI:10.21203/rs.3.rs-4148236/v1
摘要
Abstract Background Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome (Ph), resulting from the t(9;22)(q34;q11.2) translocation. Imatinib, a tyrosine kinase inhibitor, has revolutionized the treatment of CML. However, despite the initial response, some patients may progress to an advanced stage, such as a blast crisis. Case Presentation: We report a 40-year-old female who presented with CML chronic phase taking imatinib 400 mg/day and achieved a complete hematological response (CHR) after one month of treatment. She achieved suboptimal response in the third month (BCR-ABL positive 10.29% IS). However, five months into therapy, she developed a sudden lymphoid blast crisis with chromosomal aberrations involving chromosome 10 and 12. Molecular analysis detected concomitant L248V with partial exon 4 deletion and E225V mutations within the BCR-ABL1 fusion gene. The patient received intensive chemotherapy and dasatinib. Conclusion We report the first case of concomitant mutation of L248V with partial exon 4 deletion and E255V on BCR-ABL1 gene mutation which contributes to a sudden precursor B-cell lymphoid blast crisis.
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