crlf2重排混合表型急性白血病的基因组和临床病理特征。

IF 2.4 3区医学 Q2 HEMATOLOGY

Pediatric Blood & Cancer Pub Date : 2025-03-01 Epub Date: 2025-01-04 DOI:10.1002/pbc.31507

Lina Han, Ruifang Zheng, Franklin Fuda, Miguel D Cantu, Prasad Koduru, Jesse M Jaso, Olga Weinberg, Sharon Germans, Mingyi Chen, Jing Xu, Weina Chen

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引用次数: 0

摘要

细胞因子受体样因子2基因（CRLF2）重排存在于约50%具有BCR:: abl1样特征的b淋巴母细胞白血病/淋巴瘤（B-ALL）中。在此，我们报告了3例crlf2重排混合表型急性白血病（MPAL）。所有三例患者均为B/髓系MPAL，年轻患者携带P2RY8::CRLF2或IGH::CRLF2，信号通路（JAK和RAS）和细胞周期（CDKN2A/B）通路的额外基因组改变，基因组谱与BCR:: abl1样B- All相似。我们的研究是第一个证明这种未被认识的实体的临床病理和基因组特征的病例系列。我们建议预先进行基因/分子检测，以及时诊断和进一步表征MPAL的BCR:: abl1样特征。

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Genomic and Clinicopathological Characterization of CRLF2-Rearranged Mixed Phenotype Acute Leukemia.

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.

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来源期刊

Pediatric Blood & Cancer 医学-小儿科

CiteScore

4.90

自引率

9.40%

发文量

546

审稿时长

1.5 months

期刊介绍： Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.