[基于转录组测序的PICALM::MLLT10融合诊断急性髓系白血病及其临床特征]。

J Xia, X H Hu, Y Zhao, X Ma, D P Wu, S N Chen, F Chen
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引用次数: 0

摘要

回顾性分析2017年6月至2023年3月苏州大学第一附属医院经转录组测序(RNA-seq)诊断为PICALM::MLLT10 (P/M)融合基因阳性的8例急性髓性白血病(AML)患者的临床资料。分析实验室结果和治疗情况,并采用Kaplan-Meier法进行生存分析。8例患者男5例,女3例,年龄16 ~ 35岁,中位年龄27岁。患者血小板计数正常,轻度至中度贫血3例。所有有临床表现的患者均有髓外浸润,其中纵膈肿物5例,肝脾肿大2例,中枢神经系统白血病1例,颈淋巴肿大1例。核型分析显示,7例患者核型异常,其中6例为复杂核型。其中4例患者存在t(10;11)易位。患者诱导化疗完全缓解率为7/8,2例早期复发。所有患者随后接受了同种异体造血干细胞移植(alloc - hsct),随访时间为86 - 812天,中位为330天。8例患者中,3例存活,5例因复发死亡。移植后复发和死亡仅发生在P/M融合基因阳性患者中。移植后1年的总生存率为37.5%。P/M+AML具有发病年龄小、血小板计数正常、髓外浸润发生率高、复杂核型比例高的特点。RNA-seq可显著提高本病的检出率。Allo-HSCT可部分改善P/M+AML的预后,移植后P/M阳性可作为复发的警示信号,是影响生存的重要因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Diagnostic PICALM::MLLT10 fusion by transcriptome sequencing in acute myeloid leukemia and its clinical characteristics].

A retrospective analysis of clinical data of 8 patients with PICALM::MLLT10 (P/M) fusion gene-positive acute myeloid leukemia (AML) diagnosed by transcriptome sequencing (RNA-seq) at the First Affiliated Hospital of Soochow University from June 2017 to March 2023 was performed. Laboratory findings and treatment status were analyzed, and survival analysis was performed using the Kaplan-Meier method. The 8 patients included 5 males and 3 females, aged 16-35 years, with a median age of 27 years. The platelet count of patients was normal, and 3 patients had mild to moderate anemia. Extramedullary infiltration was present in all patients with clinical manifestations, including 5 patients with mediastinal masses, 2 patients with hepatosplenomegaly, 1 patient with central nervous system leukemia, and 1 patient with cervical lymph node enlargement. Karyotypical analysis revealed 7 patients with an abnormal karyotype, including 6 cases of complex karyotypes. Of these, 4 patients harbored the t(10;11) translocation. The complete remission rate of induction chemotherapy in the patients was 7/8, and 2 patients experienced early recurrence. All patients subsequently underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), The follow-up period ranged from 86 to 812 days, with a median of 330 days. Among the 8 patients, 3 survived and 5 died due to recurrence. Relapse and death only occurred in the P/M fusion gene-positive patients after transplantation. The overall survival rate at 1 year after transplantation was 37.5%. P/M+AML has the characteristics of young age at onset, normal platelet count, high incidence of extramedullary infiltration, and high proportion of complex karyotype. RNA-seq can significantly improve the detection rate of this disease type. Allo-HSCT can partially improve the prognosis of P/M+AML, and P/M positivity after transplantation can be a warning sign of recurrence, which is an important factor affecting survival.

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