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[先天性白血病与暂时性骨髓增殖性疾病:诊断困难——病例报告]

[Congenital leukaemia and transient myeloproliferative disorder: diagnostic difficulties--case reports].

作者信息

Jackowska Teresa, Steczowicz Monika, Pawelec Katarzyna, Pacholska Joanna

机构信息

Katedra i Klinika Pediatrii, Hematologii i Onkologii, Akademia Medyczna, ul. Marszałkowska 24, 00-576 Warszawa, Poland.

出版信息

Med Wieku Rozwoj. 2006 Jul-Sep;10(3 Pt 1):595-601.

Abstract

Congenital leukaemia occurs in only 0.8% of all cases of leukaemia in children. Despite great progress in the treatment of childhood leukaemia, prognosis is still poor. This type of leukaemia must be distinguished from leukaemic reactions and transient myeloproliferative disorder. Transient myeloproliferative disorder is a rare condition in the neonatal period, connected with trisomy or other abnormalities of chromosome 21. It is characterized by high blastosis in peripheral blood and bone marrow and it usually resolves without specific therapy in 1 to 3 months. We present two cases: congenital leukaemia and transient myeloproliferative disorder. The first patient was a boy in whom congenital myelomonoblastic leukaemia (M4 in FAB classification) was diagnosed at age of 6 weeks. He was treated according to BFM-96 for acute myeloblasts leukaemia protocol, but there was no remission and he died of progressive congenital leukaemia after 4 months. The second patient was a female neonate with Down's syndrome and a cardiac defect (common atrioventricular canal) in whom hyperleukocytosis with blastosis in peripheral blood and bone marrow were detected at 2 days of age. Although no specific antileukaemic therapy was given her condition improved. At age of 3 months we observed normalisation of peripheral blood and at 5 months of age the bone marrow smear was normal. These cases confirm the difficulties in differentiation between congenital leukaemia and transient myeloproliferative disorder presented in literature. In spite of the same haematological symptoms the only difference may be detection of nonhematopoietic tissue infiltration (skin and central nervous system) commonly occurring in congenital leukaemia or the presence of trisomy and other abnormalities of chromosome 21 in transient myeloproliferative disorder.

摘要

先天性白血病仅占儿童白血病病例的0.8%。尽管儿童白血病的治疗取得了巨大进展,但其预后仍然很差。这种类型的白血病必须与白血病反应和短暂性骨髓增殖性疾病相区分。短暂性骨髓增殖性疾病是新生儿期的一种罕见病症,与21号染色体三体或其他异常有关。其特征是外周血和骨髓中原始细胞比例高,通常在1至3个月内无需特殊治疗即可缓解。我们报告两例病例:先天性白血病和短暂性骨髓增殖性疾病。首例患者是一名男孩,6周龄时被诊断为先天性粒单核细胞白血病(FAB分类为M4)。他按照BFM - 96急性髓细胞白血病方案进行治疗,但未缓解,4个月后死于进行性先天性白血病。第二例患者是一名患有唐氏综合征和心脏缺陷(共同房室通道)的女新生儿,出生2天时外周血和骨髓中检测到原始细胞增多伴白细胞增多。尽管未给予特殊的抗白血病治疗,但其病情有所改善。3个月龄时外周血恢复正常,5个月龄时骨髓涂片正常。这些病例证实了文献中所描述的先天性白血病和短暂性骨髓增殖性疾病鉴别诊断的困难。尽管有相同的血液学症状,但唯一的区别可能在于先天性白血病中常见的非造血组织浸润(皮肤和中枢神经系统)的检测,或短暂性骨髓增殖性疾病中21号染色体三体及其他异常的存在。

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