Long Yuan, Xu Qi, Li Jing, Liu Bei-Cai, Cheng Peng, Luo Jun, Zhao Shengbin, Chen Ping, Liu Zhen-Fang
Department of Hematopathology, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
Suzhou Jsuniwell Medical Laboratory, Suzhou, China.
Mol Carcinog. 2025 Feb;64(2):221-225. doi: 10.1002/mc.23850. Epub 2024 Nov 27.
Mixed phenotype acute leukemia (MPAL) is a rare type of acute leukemia (AL), MPAL with BCR::ABL1 fusion is the main subtype of MPAL, mainly affecting adult males. It is an acute leukemia with unique clinical and biological characteristics that involve both the myeloid and lymphatic systems. Gene fusion plays a crucial role in the pathogenesis, diagnosis, prognosis assessment, and treatment of leukemia. We present the first discovery of a novel fusion of RUNX1::STX2 in this subtype, which is co-expressed with BCR::ABL1 fusion. RUNX1 is a crucial transcription factor for hematopoietic differentiation, frequently found to be abnormal in AML, while STX2 may play a role in cancer progression. The RUNX1::STX2 fusion protein may act as the primary negative regulator of wild-type RUNX1, influencing normal cell differentiation and proliferation, consequently elevating the risk of leukemia. The gene fusion status of this patient is unique and complex, requiring further exploration to understand its functional significance in leukemia progression and treatment response.
混合表型急性白血病（MPAL）是一种罕见的急性白血病（AL）类型，伴有BCR::ABL1融合的MPAL是MPAL的主要亚型，主要影响成年男性。它是一种具有独特临床和生物学特征的急性白血病，累及髓系和淋巴系统。基因融合在白血病的发病机制、诊断、预后评估和治疗中起着关键作用。我们首次发现了该亚型中一种新的RUNX1::STX2融合，它与BCR::ABL1融合共同表达。RUNX1是造血分化的关键转录因子，在急性髓系白血病（AML）中经常发现异常，而STX2可能在癌症进展中起作用。RUNX1::STX2融合蛋白可能作为野生型RUNX1的主要负调节因子，影响正常细胞的分化和增殖，从而增加白血病风险。该患者的基因融合状态独特且复杂，需要进一步探索以了解其在白血病进展和治疗反应中的功能意义。
