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成人获得性再生障碍性贫血诊断时细胞遗传学异常的临床相关性

Clinical relevance of cytogenetic abnormalities at diagnosis of acquired aplastic anaemia in adults.

作者信息

Gupta Vikas, Brooker Carol, Tooze Jennifer A, Yi Qi-Long, Sage Deborah, Turner David, Kangasabapathy Pamela, Marsh Judith C W

机构信息

Department of Haematology, St George's Hospital, London, UK.

出版信息

Br J Haematol. 2006 Jul;134(1):95-9. doi: 10.1111/j.1365-2141.2006.06105.x.

DOI:10.1111/j.1365-2141.2006.06105.x
PMID:16803574
Abstract

The outcome of 81 adult aplastic anaemia patients who had successful cytogenetics at diagnosis and received immunosuppressive therapy was evaluated. Ten patients had an abnormal karyotype, six of which had a trisomy. Four of five evaluable patients with a trisomy responded. One patient with monosomy 7 achieved a complete response and later developed haemolytic paroxysmal nocturnal haemoglobinuria but no recurrence of monosomy 7. None of the patients with a non-numerical karyotypic abnormality responded. No significant differences in survival or later clonal disorders were observed between patients with a normal karyotype and those with an abnormal karyotype.

摘要

对81例成年再生障碍性贫血患者的诊断结果进行了评估,这些患者在诊断时细胞遗传学检查成功并接受了免疫抑制治疗。10例患者核型异常,其中6例为三体。5例可评估的三体患者中有4例有反应。1例7号染色体单体患者获得完全缓解,随后发展为溶血性阵发性夜间血红蛋白尿,但7号染色体单体未复发。核型非数目异常的患者均无反应。核型正常的患者与核型异常的患者在生存率或后期克隆性疾病方面未观察到显著差异。

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