医学
神经母细胞瘤RAS病毒癌基因同源物
血液学
髓系白血病
内科学
干细胞
荧光原位杂交
免疫分型
完全缓解
白血病
髓样
肿瘤科
克拉斯
病理
癌症研究
化疗
免疫学
生物
流式细胞术
染色体
癌症
基因
遗传学
结直肠癌
作者
Guilin Tang,Ying Zou,Sa A. Wang,Gautam Borthakur,Gokce Toruner,Shimin Hu,Shaoying Li,Jie Xu,L. Jeffrey Medeiros,Zhenya Tang
标识
DOI:10.1007/s00277-022-04767-1
摘要
Fluorescence in situ hybridization analysis (FISH) using a CBFB breakapart probe is widely used to detect CBFB rearrangement (CBFBr) in cases of acute myeloid leukemia (AML). However, detection of 3'CBFB deletion (3'CBFBdel) often poses a challenge for interpretation, and the clinical importance of 3'CBFBdel associated CBFBr remains largely unknown. We identified 16 AML patients with 3'CBFBdel, 11 (69%) of which were confirmed to have CBFB::MYH11 fusion. These 11 patients presented with de novo AML; 10 showed myelomonocytic differentiation, 8 had a prominent eosinophilic component, and 7 showed characteristic eosinophils with basophilic granules. Next generation sequencing showed mutations in 7/8 patients, 5 with KRAS/NRAS, 3 with FLT3-TKD, but none with KIT mutations. Except for one patient who died 5 days after diagnosis of AML, all 10 patients received chemotherapy and achieved remission initially. However, within 3 years, 5 (50%) patients had relapsed, of whom, 1 died and 4 received hematopoietic stem cell transplant. After a median follow-up of 76 months, 3 patients died and 8 were alive in complete remission. Our study shows that detection of 3'CBFBdel is not equivalent to unbalanced CBFB rearrangement, and therefore, an alternative confirmatory test is warranted. AML with 3'CBFBdel/CBFBr often shows similar pathological features to AML with inv(16), but appears to have different mutation profiles and a higher risk of relapse requiring hematopoietic stem cell transplant.
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