PICALM::MLLT10 融合是急性白血病中一种罕见但复发的细胞遗传学异常，可用的临床病理学和结果数据有限。在此，我们分析了 156 例 PICALM::MLLT10 融合的急性白血病患者，其中 12 例来自我们机构，144 例来自文献。 PICALM::MLLT10 融合优先出现在儿童和年轻成人患者中，中位年龄为 24 岁。 T 淋巴细胞白血病/淋巴瘤 (T-ALL) 占病例的 65%，急性髓系白血病 (AML) 占 27%，急性谱系不明白血病 (ALAL) 占 8%。大约一半的 T-ALL 被归类为早期 T 前体 (ETP)-ALL。在我们机构的队列中，纵隔是最常见的髓外受累部位。 12 名患者中的 8 名被诊断为 T-ALL，表现出前 T 期/前 T 期表型（CD4/CD8 双阴性、CD7 阳性）和频繁的 CD79a 表达。 NGS 揭示了 6 例测试病例中 5 例的致病突变，包括 NOTCH1、RAS 和 JAK-STAT 通路中的基因以及表观遗传修饰因子。在 138 例随访病例中，儿童患者（<18 岁）的 5 年总生存率 (OS) 为 71%，明显优于成人的 33%。 AML 患者的 5 年 OS 为 25%，明显短于 T-ALL 患者的 54%；在儿童和成人人群中都观察到了这种区别。此外，与非 ETP-ALL 患者相比，成人而非儿童 ETP-ALL 患者的生存率较低。核型复杂性和移植状态都对 OS 没有明显影响。总之，PICALM::MLLT10 融合最常见于 T-ALL 患者，尤其是具有 ETP 表型的患者。 AML和成人ETP-ALL患者预后不良。 PICALM::MLTT10 融合检测应考虑用于 T-ALL、AML 和 ALAL 患者。版权所有 © 2024。由 Elsevier Inc. 出版。

The PICALM::MLLT10 fusion is a rare but recurrent cytogenetic abnormality in acute leukemia, with limited clinicopathologic and outcome data available. Herein, we analyzed 156 acute leukemia patients with PICALM::MLLT10 fusion, including 12 patients from our institutions and 144 patients from the literature. The PICALM::MLLT10 fusion preferentially manifested in pediatric and young adult patients, with a median age of 24 years. T-lymphoblastic leukemia/lymphoma (T-ALL) constituted 65% of cases, acute myeloid leukemia (AML) 27%, and acute leukemia of ambiguous lineage (ALAL) 8%. About half of T-ALL were classified as an early T-precursor (ETP)-ALL. In our institutions' cohort, mediastinum was the most common extramedullary site of involvement. Eight of 12 patients were diagnosed with T-ALL exhibiting a pro-/pre-T stage phenotype (CD4/CD8-double negative, CD7-positive), and frequent CD79a expression. NGS revealed pathogenic mutations in 5 of 6 tested cases, including NOTCH1, and genes in RAS and JAK-STAT pathways and epigenetic modifiers. Of 138 cases with follow-up, pediatric patients (<18 years) had 5-year overall survival (OS) of 71%, significantly better than adults at 33%. The 5-year OS for AML patients was 25%, notably shorter than T-ALL patients at 54%; this distinction was observed in both pediatric and adult populations. Furthermore, adult but not pediatric ETP-ALL patients demonstrated inferior survival compared to non-ETP-ALL patients. Neither karyotype complexity nor transplant status had a discernible impact on OS. In conclusion, PICALM::MLLT10 fusion is most commonly seen in T-ALL patients, particularly those with an ETP phenotype. AML and adult ETP-ALL patients had adverse prognosis. PICALM::MLTT10 fusion testing should be considered in T-ALL, AML, and ALAL patients.Copyright © 2024. Published by Elsevier Inc.