供体来源的sf3b1突变骨髓增生异常肿瘤/综合征。

IF 1 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
Anindita Ghosh, Jie Xu, Gautam Borthakur, Amanda Olson, L Jeffrey Medeiros, Sanam Loghavi
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引用次数: 0

摘要

我们报告一例罕见的供体来源的sf3b1突变骨髓增生异常综合征(MDS),发生在一名45岁的女性,她接受了单倍体同种异体造血干细胞移植(alloo - hsct)治疗急性髓系白血病。最初的缓解是在诱导后实现的,移植导致完全的供体嵌合。然而,常规移植后监测发现一种新的SF3B1 K666N突变,演变为显性MDS,伴有环状铁母细胞和多系发育不良。持续的100%供体嵌合证实了肿瘤的供体来源性。患者的病程因严重的移植物抗宿主病、机会性感染和最终死亡而复杂化。该病例强调了供体源性MDS的诊断挑战和临床意义,特别是涉及SF3B1突变,这通常与良好的预后相关,但在移植后的环境中仍然缺乏特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Donor-Derived SF3B1-Mutated Myelodysplastic Neoplasm/Syndrome.

We report a rare case of donor-derived SF3B1-mutated myelodysplastic syndrome (MDS) arising in a 45-year-old woman following haploidentical allogeneic hematopoietic stem cell transplantation (allo-HSCT) for acute myeloid leukemia. Initial remission was achieved post-induction, and transplantation resulted in full donor chimerism. However, routine post-transplant surveillance revealed a novel SF3B1 K666N mutation, evolving to overt MDS with ring sideroblasts and multilineage dysplasia. Persistent 100% donor chimerism confirmed the donor-derived nature of the neoplasm. The patient's course was complicated by severe graft-versus-host disease, opportunistic infections, and ultimately death. This case highlights the diagnostic challenges and clinical implications of donor-derived MDS, particularly involving SF3B1 mutations, which are typically associated with favorable prognosis but remain poorly characterized in post-transplant settings.

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来源期刊
Annals of clinical and laboratory science
Annals of clinical and laboratory science 医学-医学实验技术
CiteScore
1.60
自引率
0.00%
发文量
112
审稿时长
6-12 weeks
期刊介绍: The Annals of Clinical & Laboratory Science welcomes manuscripts that report research in clinical science, including pathology, clinical chemistry, biotechnology, molecular biology, cytogenetics, microbiology, immunology, hematology, transfusion medicine, organ and tissue transplantation, therapeutics, toxicology, and clinical informatics.
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