Sudden Blast Crisis in a chronic myeloid leukemia patient in Treatment Free Remission: A case report and literature review.

IF 1.7 4区 医学 Q3 HEMATOLOGY Acta Haematologica Pub Date : 2024-10-21 DOI:10.1159/000542153
Qiushi Liang, Zhigang Liu, Yu Wu, Huanling Zhu, Yunfan Yang
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Abstract

Introduction:Treatment-free remission (TFR) has emerged as a new goal in the treatment of chronic myeloid leukemia (CML). TFR is considered a safe intervention because patients who experienced molecular relapse usually responded well to tyrosine kinase inhibitors resumption and regained molecular response quite efficiently. Nevertheless, there have been reports of occurrence of blast crisis during TFR. Case Presentation: We report a case of sudden lymphoid blast crisis in a CML patient who had been in TFR for 21 months without any prior molecular loss. Whole-exon sequencing identified a frameshift mutation of SETD2. In addition, we reviewed the current literature on cases of blast crisis in TFR. Only eleven cases of blast crisis have been reported among thousands of patients who discontinued tyrosine kinase inhibitor (TKI) therapy, including our patient. Of these cases, nine presented with lymphoid blast crisis. Additional gene mutations are frequently observed. Conclusion: This case, along with others, emphasizes the necessity of implementing a long-term monitoring strategy following TKI discontinuation due to the potential for late onset of blast crisis. Systematic genetic studies in patients failing TFR should be properly carried out to further understand the mechanism and eventually, to predict or prevent such adverse event in patients in TFR.

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一名处于无治疗缓解期的慢性髓性白血病患者突发暴发性危机:病例报告和文献综述。
导言:无治疗缓解(TFR)已成为慢性髓性白血病(CML)治疗的新目标。无治疗缓解被认为是一种安全的干预措施,因为出现分子复发的患者通常对酪氨酸激酶抑制剂的恢复反应良好,并能相当有效地恢复分子反应。然而,也有报道称在 TFR 期间发生了爆破危象。病例介绍:我们报告了一例突发性淋巴细胞暴发性坏死的 CML 患者,该患者已接受 TFR 治疗 21 个月,之前未出现任何分子学损失。全外显子测序确定了 SETD2 的框架移位突变。此外,我们还回顾了目前有关 TFR 爆发危象病例的文献。在数以千计停止酪氨酸激酶抑制剂(TKI)治疗的患者中,仅有11例报道了爆破危象,包括我们的患者。在这些病例中,9 例出现淋巴细胞暴发性增生危象。此外,还经常观察到其他基因突变。结论:本病例及其他病例强调,由于可能出现晚期爆发性淋巴细胞凋亡危象,因此有必要在停用 TKI 治疗后实施长期监测策略。应适当开展对 TFR 失败患者的系统基因研究,以进一步了解其机制,并最终预测或预防 TFR 患者的此类不良事件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Acta Haematologica
Acta Haematologica 医学-血液学
CiteScore
4.90
自引率
0.00%
发文量
61
审稿时长
6-12 weeks
期刊介绍: ''Acta Haematologica'' is a well-established and internationally recognized clinically-oriented journal featuring balanced, wide-ranging coverage of current hematology research. A wealth of information on such problems as anemia, leukemia, lymphoma, multiple myeloma, hereditary disorders, blood coagulation, growth factors, hematopoiesis and differentiation is contained in first-rate basic and clinical papers some of which are accompanied by editorial comments by eminent experts. These are supplemented by short state-of-the-art communications, reviews and correspondence as well as occasional special issues devoted to ‘hot topics’ in hematology. These will keep the practicing hematologist well informed of the new developments in the field.
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