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急性淋巴细胞白血病中罕见的非典型 Ela3 BCR-ABL 转录本:一例病例报告

英文原题:Rare Atypical Ela3 BCR-ABL transcript in acute Lymphoblastic Leukemia: a case report.

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Rare Atypical Ela3 BCR-ABL transcript in acute Lymphoblastic Leukemia: a case report.

PubMed 2025/06/01(内容时间) Afr Health Sci Q3 · IF 0.9(JCR 2025)

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中文摘要

费城染色体通常在大约30%的急性B淋巴细胞白血病中表达。大多数Ph阳性急性淋巴细胞白血病患者具有ela2 BCR-ABL转录本,其他非典型融合基因如ela3鲜有报道。我们报道了一例携带罕见ela3融合转录本的Ph阳性B-急性淋巴细胞白血病。她表现为复杂核型,对伊马替尼和达沙替尼显示出良好的早期反应,但在诊断后六个月复发,并在ABL激酶区相继检测到E255v、T315I突变,随后他换用ponatinib并接受了异基因造血干细胞移植。但16个月后微小残留病灶增加,患者接受了CD19CAR-T 细胞免疫治疗,并改为olverembatinib靶向治疗。该急性淋巴细胞白血病亚组可能比具有常见转录本的患者预后更差。我们推荐将第三代酪氨酸激酶抑制剂作为其初始治疗的首选,并应尽早考虑异基因造血干细胞移植或免疫治疗以及新的临床试验。

展开英文摘要原文

The Philadelphia chromosome is usually express on about 30% acute B lymphoblastic leukemia. Most of Ph-positive acute lymphoblastic leukemia patients have ela2 BCR-ABL transcripts, other atypical fusion genes such as ela3 have been rare reported.

We reported a case of Ph-positive B-acute lymphoblastic leukemia with a scare ela3 fusion transcript. She presented with a complex karyotype and showed good early response to imatinib and dasatinib but relapsed six months after diagnosis, and E255v, T315I mutations were successively detected in the ABL kinase region, then he switched to ponatinib and underwent allogeneic hematopoietic stem cell transplantation.

But the Minimal Residual Disease increased after 16 months, the patient was treated with CD19 chimeric antigen receptor T cell immunotherapy, and changed to olverembatinib targeted therapy. This subgroup of acute lymphoblastic leukemia might have poorer prognosis than patients with common transcripts. we recommend the third-generation tyrosine-kinase inhibitor as a first choice for their initial therapy and allogeneic hematopoietic stem cell transplantation or immunotherapy and new clinical trials should be considered as early as possible.

论文信息

作者
Xu L、Han T、Wei S、Wang N
单位
Department of Hematology, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai, China.China
文献类型
病例报告
期刊
African health sciences2025 Jun
原文标识
PubMed 40837631 · DOI 10.4314/ahs.v25i2.41