E Shuyu, Xu Jie, Wang Sa A, Tang Guilin, Jabbour Elias J, Li Shaoying, You M James, Medeiros L Jeffrey, Yin C Cameron
Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, US.
Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, Houston, TX, US.
Am J Clin Pathol. 2025 Feb 12;163(2):231-239. doi: 10.1093/ajcp/aqae115.
The blasts in most cases of chronic myeloid leukemia blast phase (CML-BP) have a myeloid or precursor-B immunophenotype, with only a small subset having T-cell or natural killer-cell lineage. Patients with CML-BP having early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) are extremely rare.
We report the clinicopathologic, immunophenotypic, and molecular genetic features and outcome of 3 patients with CML-BP who had ETP-ALL, with a review of the literature.
Only patient 1 had a history of chronic myeloid leukemia chronic phase. Fluorescence in situ hybridization revealed BCR::ABL1 rearrangement in cells with round nuclei (blasts) and cells with segmented nuclei (neutrophils) in cases 2 and 3, supporting a diagnosis of CML-BP rather than de novo Ph+ ETP-ALL. The blasts were positive for cytoplasmic CD3, CD7, CD33, and CD117; were negative for CD1a and CD8; and had dim CD5 expression in 2 cases. Next-generation sequencing showed a TET2 mutation in case 1 and BCOR, RUNX1, and STAG2 mutations in case 3. All patients received chemotherapy and tyrosine kinase inhibitors. Patients 2 and 3 died 33 days and 39 days, respectively, after diagnosis. Patient 1 received stem cell transplantation and was alive 14 months after blast phase.
Patients with CML-BP may have ETP-ALL. These patients usually have an aggressive clinical course, requiring intensive therapy, and may benefit from stem cell transplantation.
大多数慢性髓性白血病急变期（CML-BP）病例中的原始细胞具有髓系或前体B免疫表型，只有一小部分具有T细胞或自然杀伤细胞系。患有早期T细胞前体急性淋巴细胞白血病（ETP-ALL）的CML-BP患者极为罕见。
我们报告了3例患有ETP-ALL的CML-BP患者的临床病理、免疫表型和分子遗传学特征及预后，并对文献进行了回顾。
仅患者1有慢性髓性白血病慢性期病史。荧光原位杂交显示病例2和3中圆形核细胞（原始细胞）和分叶核细胞（中性粒细胞）中有BCR::ABL1重排，支持CML-BP的诊断而非初发Ph+ETP-ALL。原始细胞胞质CD3、CD7、CD33和CD117呈阳性；CD1a和CD8呈阴性；2例CD5表达减弱。二代测序显示病例1有TET2突变，病例3有BCOR、RUNX1和STAG2突变。所有患者均接受了化疗和酪氨酸激酶抑制剂治疗。患者2和3分别在诊断后33天和39天死亡。患者1接受了干细胞移植，在急变期后14个月仍存活。
CML-BP患者可能患有ETP-ALL。这些患者通常临床病程侵袭，需要强化治疗，可能从干细胞移植中获益。
