Han Lina, Zheng Ruifang, Fuda Franklin, Cantu Miguel D, Koduru Prasad, Jaso Jesse M, Weinberg Olga, Germans Sharon, Chen Mingyi, Xu Jing, Chen Weina
Departments of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Pediatr Blood Cancer. 2025 Mar;72(3):e31507. doi: 10.1002/pbc.31507. Epub 2025 Jan 4.
Rearrangements of cytokine receptor-like factor 2 gene (CRLF2) are present in ∼50% of B-lymphoblastic leukemia/lymphoma (B-ALL) with BCR::ABL1-like features. Herein, we report three patients with CRLF2-rearranged mixed phenotype acute leukemia (MPAL). All three cases were B/myeloid MPAL in young patients harboring P2RY8::CRLF2 or IGH::CRLF2 with additional genomic alterations in signaling (JAK and RAS) and cell cycle (CDKN2A/B) pathways, a genomic profile similar to that in BCR::ABL1-like B-ALL. Our study is the first case series to demonstrate clinicopathological and genomic features of this underrecognized entity. We recommend upfront genetic/molecular testing to timely diagnose and further characterize MPAL with BCR::ABL1-like features.
细胞因子受体样因子2基因（CRLF2）重排在约50%具有BCR::ABL1样特征的B淋巴细胞母细胞白血病/淋巴瘤（B-ALL）中存在。在此，我们报告3例CRLF2重排的混合表型急性白血病（MPAL）患者。所有3例均为年轻患者的B/髓系MPAL，携带P2RY8::CRLF2或IGH::CRLF2，并在信号传导（JAK和RAS）和细胞周期（CDKN2A/B）途径中存在其他基因组改变，其基因组特征与BCR::ABL1样B-ALL相似。我们的研究是首个展示这一未被充分认识的实体的临床病理和基因组特征的病例系列。我们建议进行前期基因/分子检测，以便及时诊断并进一步明确具有BCR::ABL1样特征的MPAL。
