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与嵌合型唐氏综合征相关的急性巨核细胞白血病。

Acute megakaryoblastic leukemia associated with mosaic Down's syndrome.

作者信息

Simon J H, Tebbi C K, Freeman A I, Brecher M L, Green D M, Sandberg A A

机构信息

Department of Pediatrics, Roswell Park Memorial Institute, Buffalo, NY 14263.

出版信息

Cancer. 1987 Nov 15;60(10):2515-20. doi: 10.1002/1097-0142(19871115)60:10<2515::aid-cncr2820601028>3.0.co;2-f.

DOI:10.1002/1097-0142(19871115)60:10<2515::aid-cncr2820601028>3.0.co;2-f
PMID:2959356
Abstract

There have been several reports of the association between Down's Syndrome and acute megakaryoblastic (M7) leukemia (AMKL). The diagnosis of this rare form of leukemia has been better delineated by the use of the platelet peroxidase reaction and the antifactor VIII antibody immunoperoxidase test. In the past, the prognosis of patients with a combination of Down's Syndrome and AMKL has been extremely poor, with a median survival of 6.9 months for 11 reported cases in the literature. The present report reviews the previously reported cases and describes a unique patient with mosaic Down's syndrome and AMKL with favorable response to therapy.

摘要

已有多篇关于唐氏综合征与急性巨核细胞白血病(M7型,AMKL)关联的报道。血小板过氧化物酶反应和抗因子VIII抗体免疫过氧化物酶检测的应用,使这种罕见白血病的诊断得到了更好的界定。过去,唐氏综合征合并AMKL患者的预后极差,文献报道的11例患者中位生存期为6.9个月。本报告回顾了先前报道的病例,并描述了一名患有嵌合型唐氏综合征和AMKL且对治疗反应良好的独特患者。

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1
Acute megakaryoblastic leukemia associated with mosaic Down's syndrome.与嵌合型唐氏综合征相关的急性巨核细胞白血病。
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Megakaryoblastic leukemia and Down's syndrome: a review.巨核细胞白血病与唐氏综合征:综述
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Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019.2016 - 2019年医疗补助参保成年人中嵌合型唐氏综合征的发生率及并发疾病的患病率
Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32097. doi: 10.1002/ajmg.c.32097. Epub 2024 Jun 25.
2
Mosaic Down syndrome-associated acute myeloid leukemia does not require high-dose cytarabine treatment for induction and consolidation therapy.镶嵌型唐氏综合征相关急性髓系白血病在诱导和巩固治疗中并不需要高剂量阿糖胞苷治疗。
Int J Hematol. 2010 May;91(4):630-5. doi: 10.1007/s12185-010-0549-1. Epub 2010 Mar 18.
3
Role for MKL1 in megakaryocytic maturation.
MKL1在巨核细胞成熟过程中的作用。
Blood. 2009 Mar 19;113(12):2826-34. doi: 10.1182/blood-2008-09-180596. Epub 2009 Jan 9.
4
Hematopoietic disorders in Down syndrome.唐氏综合征中的造血系统疾病。
Int J Clin Exp Pathol. 2008 Jan 1;1(5):387-95.
5
Florid radiological appearance of megakaryoblastic leukaemia--an aid to earlier diagnosis.巨核母细胞白血病的典型放射学表现——有助于早期诊断
Pediatr Radiol. 1989;19(6-7):486-8. doi: 10.1007/BF02387668.
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Leukaemia and transient leukaemia in Down syndrome.唐氏综合征中的白血病和短暂性白血病。
Hum Genet. 1990 Oct;85(5):477-85. doi: 10.1007/BF00194220.