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一例罕见MLL-EP300重排的治疗相关髓系肿瘤潜伏期异常短暂:病例报告及文献综述

An Unusually Short Latent Period of Therapy-Related Myeloid Neoplasm Harboring a Rare MLL-EP300 Rearrangement: Case Report and Literature Review.

作者信息

Takeda Reina, Yokoyama Kazuaki, Kobayashi Seiichiro, Kawamata Toyotaka, Nakamura Sousuke, Fukuyama Tomofusa, Ito Mika, Yusa Nozomi, Shimizu Eigo, Ohno Nobuhiro, Yamaguchi Rui, Imoto Seiya, Miyano Satoru, Uchimaru Kaoru, Tojo Arinobu

机构信息

Department of Hematology/Oncology, Research Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.

Division of Cellular Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.

出版信息

Case Rep Hematol. 2019 Oct 2;2019:4532434. doi: 10.1155/2019/4532434. eCollection 2019.

Abstract

Therapy-related myeloid neoplasm (t-MN) is a late and lethal complication induced by chemotherapy and/or radiation therapy. Hematological malignancy is one of the most common primary diseases in patients with t-MN. However, the occurrence of t-MN in adult T-cell leukemia/lymphoma (ATL) patients is rarely reported, possibly due to the dismal prognosis of ATL per se. Here, we report a 62-year-old female who developed t-MN only three months after the completion of conventional chemotherapy and anti-CCR4 antibody for ATL acute type. The patient presented with persistent fever and monocytosis without any evidence of infectious diseases. Bone marrow examinations revealed chronic myelomonocytic leukemia-like disease with a chromosomal translocation of t(11;22)(q23;q13) as a solo cytogenetic abnormality, resulting in the diagnosis of t-MN. Next-generation sequencing analysis identified a rare chimeric transcript, MLL-EP300, without any additional somatic mutations. Although the patient underwent allogenic hematopoietic stem cell transplantation, she died of viral encephalomyelitis at 7 months after diagnosis of t-MN. Since recent therapeutic advances have extended the survival of patients with ATL, further evaluation of the long-term risks of developing t-MN in these patients is warranted.

摘要

治疗相关髓系肿瘤(t-MN)是由化疗和/或放疗引起的一种晚期致死性并发症。血液系统恶性肿瘤是t-MN患者最常见的原发性疾病之一。然而,成人T细胞白血病/淋巴瘤(ATL)患者中t-MN的发生情况鲜有报道,这可能是由于ATL本身预后较差。在此,我们报告一名62岁女性,在完成针对ATL急性型的传统化疗和抗CCR4抗体治疗仅三个月后就发生了t-MN。该患者持续发热且单核细胞增多,无任何感染性疾病证据。骨髓检查显示为慢性粒单核细胞白血病样疾病,染色体易位t(11;22)(q23;q13)为唯一的细胞遗传学异常,从而诊断为t-MN。二代测序分析鉴定出一种罕见的嵌合转录本MLL-EP300,无任何其他体细胞突变。尽管该患者接受了异基因造血干细胞移植,但在诊断t-MN后7个月死于病毒性脑脊髓炎。由于近期的治疗进展延长了ATL患者的生存期,因此有必要进一步评估这些患者发生t-MN的长期风险。

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