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唐氏综合征患者短暂异常髓系造血中的额外染色体异常

Additional chromosome abnormalities in transient abnormal myelopoiesis in Down's syndrome patients.

作者信息

Kounami S, Aoyagi N, Tsuno H, Suzuki H, Kitano N, Koike M

机构信息

Department of Pediatrics, Wakayama Medical College, Japan.

出版信息

Acta Haematol. 1997;98(2):109-12. doi: 10.1159/000203600.

Abstract

We report a case of transient abnormal myelopoiesis (TAM) with Down's syndrome. As the blast cells had additional chromosome abnormalities (50,XY,+12,+14,+21 x 2), a possibility of acute leukemia was considered from a cytogenetic point of view. But the abnormal clone gradually disappeared without antileukemic therapies. Viewing it together with previous reports of TAM with additional chromosome abnormalities in Down's syndrome babies, its presence does not immediately indicate an aggressive clinical course as in acute leukemia and spontaneous complete hematological remission may be achieved. Thus, a careful follow-up should precede cytogenetic findings helping to determine the therapeutic intervention.

摘要

我们报告了一例患有唐氏综合征的暂时性异常髓系造血(TAM)病例。由于原始细胞存在额外的染色体异常(50,XY,+12,+14,+21×2),从细胞遗传学角度考虑存在急性白血病的可能性。但在未进行抗白血病治疗的情况下,异常克隆逐渐消失。结合之前关于唐氏综合征婴儿伴有额外染色体异常的TAM报告来看,其存在并不像急性白血病那样立即预示着侵袭性的临床病程,有可能实现自发的完全血液学缓解。因此,在细胞遗传学结果有助于确定治疗干预之前,应进行仔细的随访。

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