与唐氏综合征相关的骨髓增生:来自五所大型学术机构的四十例病例的临床病理特征。

IF 3.5 4区 医学 Q3 CELL BIOLOGY Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-03-30 DOI:10.1159/000530431
Tayler A van den Akker, Yen-Chun Liu, Huifei Liu, Jennifer Chapman, Jennifer M Levine, Olga K Weinberg, Julia T Geyer
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引用次数: 0

摘要

目的:唐氏综合征(DS)患儿骨髓增生异常综合征和急性髓系白血病的发病率显著增加。在 2016 年世卫组织修订版中,这些疾病被共同归类为与 DS 相关的骨髓性白血病(ML-DS)。此外,患有 DS 的婴儿可能会出现短暂性骨髓造血异常(TAM),这在组织形态学上与 ML-DS 相同。虽然 TAM 是自限性的,但它与随后罹患 ML-DS 的风险增加有关。区分 TAM 和 ML-DS 具有挑战性,但在临床上却至关重要:我们对从美国五家大型学术机构收集的 ML-DS 和 TAM 病例进行了回顾性研究。我们评估了临床、病理、免疫表型和分子特征,以确定区分标准:结果:共发现 40 个病例,其中 28 例为 ML-DS,12 例为 TAM。有几个特征在诊断上是不同的,包括 TAM 病例的年龄较小(p 结论:该研究结果证实了 ML-DS 和 TAM 在生物学上的显著差异:研究结果证实了 TAM 和 ML-DS 在生物学上的显著相似性。同时,TAM 和 ML-DS 在临床、形态学和遗传学方面也存在一些显著差异。本文详细讨论了这两种疾病的临床方法和鉴别诊断。
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Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions.

Introduction: The incidence of myelodysplastic syndrome and acute myeloid leukemia is significantly increased in children with Down syndrome (DS). Within the revised 2016 WHO edition, these entities are jointly classified as myeloid leukemia associated with DS (ML-DS). Additionally, infants with DS may develop transient abnormal myelopoiesis (TAM) which is histomorphologically similar to ML-DS. While TAM is self-limiting, it is associated with an increased risk of subsequently developing ML-DS. Differentiating TAM and ML-DS is challenging but clinically critical.

Methods: We performed a retrospective review of ML-DS and TAM cases collected from five large academic institutions in the USA. We assessed clinical, pathological, immunophenotypical, and molecular features to identify differentiating criteria.

Results: Forty cases were identified: 28 ML-DS and 12 TAM. Several features were diagnostically distinct, including younger age in TAM (p < 0.05), as well as presentation with clinically significant anemia and thrombocytopenia in ML-DS (p < 0.001). Dyserythropoiesis was unique to ML-DS, as well as structural cytogenetic abnormalities aside from the constitutional trisomy 21. Immunophenotypic characteristics of TAM and ML-DS were indistinguishable, including the aberrant expression of CD7 and CD56 by the myeloid blasts.

Discussion: The findings of the study confirm marked biological similarities between TAM and ML-DS. At the same time, several significant clinical, morphological, and genetic differences were observed between TAM and ML-DS. The clinical approach and the differential diagnosis between these entities are discussed in detail.

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来源期刊
Pathobiology
Pathobiology 医学-病理学
CiteScore
8.50
自引率
0.00%
发文量
47
审稿时长
>12 weeks
期刊介绍: ''Pathobiology'' offers a valuable platform for the publication of high-quality original research into the mechanisms underlying human disease. Aiming to serve as a bridge between basic biomedical research and clinical medicine, the journal welcomes articles from scientific areas such as pathology, oncology, anatomy, virology, internal medicine, surgery, cell and molecular biology, and immunology. Published bimonthly, ''Pathobiology'' features original research papers and reviews on translational research. The journal offers the possibility to publish proceedings of meetings dedicated to one particular topic.
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