以及儿童血液系统恶性肿瘤（除 B 细胞急性淋巴细胞白血病外）的异常。
and abnormalities in childhood hematological malignancies other than B-cell Acute Lymphoblastic Leukemia.
机构信息
CONAHCYT-Instituto Nacional de Pediatría, Mexico City, Mexico.
Laboratorio de Genética y Cáncer, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Mexico City, Mexico.
出版信息
Leuk Lymphoma. 2024 Dec;65(12):1853-1863. doi: 10.1080/10428194.2024.2378817. Epub 2024 Jul 21.
Rearrangements and overexpression of are hallmarks of poor outcomes in -like B-ALL, and overexpression is a high-risk marker in T-ALL. However, alterations in pediatric hematologic malignancies other than B-ALL have not been reported. In this study, we analyzed the overexpression, rearrangements ( and ), activation (pSTAT5 and pERK), and the expression of dominant-negative isoforms (Ik6 and Ik8), implied in dysregulation, in 16 pediatric patients (AML, = 9; T-ALL, = 3; LBL, = 2; HL, = 1; cytopenia, = 1). A high frequency of rearrangements and overexpression was found in the 16 patients: 28.6% (4/14) showed overexpression, 93.8% (15/16) were positive for CRLF2 total protein (cell-surface and/or cytoplasmic), while 62.5% (10/16) were positive for and 12.6% (2/16) for . In addition, 43.8% (7/16) expressed Ik6 and Ik8 isoforms. However, only a few patients were positive for the surrogate markers pSTAT5 (14.3%; 2/14) and pERK (21.4%; 3/14).
在类 B-ALL 中，重排和过表达是预后不良的标志，而过表达是 T-ALL 中的高危标志物。然而，除 B-ALL 以外的儿科血液恶性肿瘤中的 改变尚未报道。在这项研究中，我们分析了 16 名儿科患者（AML，n=9；T-ALL，n=3；LBL，n=2；HL，n=1；血细胞减少症，n=1）中与 失调相关的 过表达、重排（和）、激活（pSTAT5 和 pERK）以及显性负性 同工型（Ik6 和 Ik8）的表达。16 名患者中发现了高频的 重排和过表达：28.6%（4/14）表现出 过表达，93.8%（15/16）的 CRLF2 总蛋白（细胞表面和/或细胞质）呈阳性，而 62.5%（10/16）的 呈阳性，12.6%（2/16）的 呈阳性。此外，43.8%（7/16）表达 Ik6 和 Ik8 同工型。然而，只有少数患者的替代标志物 pSTAT5（14.3%；2/14）和 pERK（21.4%；3/14）呈阳性。
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