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急性淋巴细胞白血病髓外复发的一个独特病例:从睾丸累及至眼、心脏和结肠,以及精子表型分析在诊断中的作用——病例报告与文献综述

A Unique Case of Extramedullary Relapse in Acute Lymphoblastic Leukemia: Testicular to Ocular, Cardiac, and Colonic Involvement and the Role of Sperm Phenotyping in Diagnosis-Case Report and Literature Review.

作者信息

Cătană Alina Camelia, Vlădoiu Maria-Gabriela, Sandu Mariana, Olteanu Ariela, Mocanu Liliana, Mihai Elena, Teodoru Minodora, Matei Claudiu, Zahu Renata, Varady Zsofia, Mondoc Lidia, Noor Cristina, Moicean Andreea, Mera Geanina

机构信息

County Clinical Emergency Hospital Sibiu, 550245 Sibiu, Romania.

Faculty of Medicine Sibiu, Lucian Blaga University of Sibiu, 550169 Sibiu, Romania.

出版信息

J Clin Med. 2025 Jan 10;14(2):405. doi: 10.3390/jcm14020405.

DOI:10.3390/jcm14020405
PMID:39860409
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11766149/
Abstract

Acute lymphoblastic leukemia (ALL) is a malignant condition of lymphoid progenitor cells that primarily affects the pediatric population, but also adults. The 5-year survival rate is 90% in children and approximately 40% in adults, with survival increasing through the use of peripheral stem cell allotransplantation (SCT). The relapse rate after stem cell transplantation (SCT) in adult acute lymphoblastic leukemia (ALL) patients ranges from 35% to 45%, making relapse a major cause of death in this population. We present an atypical case of late testicular involvement in ALL in a 50-year-old man diagnosed with ALL pro-T in remission post-chemotherapy (GMALL 2003 protocol) and allogeneic stem cell transplantation (alloSCT) from a related donor. This case describes a 50-year-old male with ALL pro-T who experienced three rare extramedullary relapses post-chemotherapy and alloSCT. Five years after remission, he had a unilateral testicular relapse confirmed by immunophenotyping of spermatic fluid. Despite no bone marrow involvement, he was treated with chemotherapy, intrathecal therapy, and bilateral testicular radiotherapy. He later relapsed in the orbit, controlled by radiotherapy, followed by a third relapse in the heart and colon. This case highlights the unusual sites and consecutive nature of extramedullary relapses in adult ALL.

摘要

急性淋巴细胞白血病(ALL)是一种淋巴祖细胞的恶性疾病,主要影响儿童人群,但也会影响成人。儿童的5年生存率为90%,成人约为40%,通过使用外周血干细胞同种异体移植(SCT)生存率有所提高。成年急性淋巴细胞白血病(ALL)患者干细胞移植(SCT)后的复发率在35%至45%之间,复发是该人群的主要死亡原因。我们报告了一例非典型病例,一名50岁男性,诊断为ALL pro-T,化疗后(GMALL 2003方案)缓解,接受来自相关供体的异基因干细胞移植(alloSCT),出现晚期睾丸受累。该病例描述了一名50岁的ALL pro-T男性,化疗和alloSCT后经历了三次罕见的髓外复发。缓解五年后,通过精液免疫表型分析确诊为单侧睾丸复发。尽管没有骨髓受累,但他接受了化疗、鞘内治疗和双侧睾丸放疗。他后来眼眶复发,通过放疗控制,随后心脏和结肠出现第三次复发。该病例突出了成人ALL髓外复发的不寻常部位和连续性。

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本文引用的文献

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Acute lymphoblastic leukemia relapse presenting with optic nerve infiltration.急性淋巴细胞白血病复发伴视神经浸润。
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Post-Hematopoietic Cell Transplantation Relapsed Acute Lymphoblastic Leukemia: Current Challenges and Future Directions.造血干细胞移植后复发的急性淋巴细胞白血病:当前挑战与未来方向
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患者曾接受异基因造血干细胞移植和嵌合抗原受体 T 细胞(CAR-T)治疗,现患有 B 细胞淋巴母细胞淋巴瘤/急性淋巴细胞白血病合并心脏受累:病例报告。
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