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单体7综合征。儿童和青少年的临床异质性。

Monosomy 7 syndrome. Clinical heterogeneity in children and adolescents.

作者信息

Daghistani D, Toledano S R, Curless R

机构信息

Department of Pediatrics, University of Miami/Jackson Memorial Hospital.

出版信息

Cancer Genet Cytogenet. 1990 Feb;44(2):263-9. doi: 10.1016/0165-4608(90)90055-f.

Abstract

Bone marrow monosomy 7 is the most frequent karyotypic abnormality found in patients with chronic myeloproliferative disorders. To a review of 46 previously reported pediatric patients we add three additional cases. Clinical presentation is usually dependent upon which cell lines are most perturbed in this pluripotent stem cell disorder. Sixteen (35%) children presented by their first birthday and 35 (76%) by their sixth birthday. Distinctive differences in presentation exist between infants, children, and adolescents. Younger patients were more symptomatic and had greater degree of hepatosplenomegaly and leukocytosis. The prognosis is very poor and death usually occurs within two years from complications attributable to cytopenias, cellular dysfunction, or transformation to acute nonlymphocytic leukemia. Implications for therapy are discussed.

摘要

骨髓单体7是慢性骨髓增殖性疾病患者中最常见的核型异常。在回顾46例先前报道的儿科患者后,我们又增加了3例。临床表现通常取决于在这种多能干细胞疾病中哪些细胞系受到的干扰最大。16名(35%)儿童在1岁生日前发病,35名(76%)在6岁生日前发病。婴儿、儿童和青少年在临床表现上存在明显差异。年龄较小的患者症状更明显,肝脾肿大和白细胞增多的程度更高。预后非常差,死亡通常发生在两年内,原因是血细胞减少、细胞功能障碍或转化为急性非淋巴细胞白血病。文中还讨论了对治疗的影响。

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