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14号染色体三体是一种与髓系恶性肿瘤相关的非随机核型异常。

Trisomy 14 is a non-random karyotypic abnormality associated with myeloid malignancies.

作者信息

Toze C L, Barnett M J, Naiman S C, Horsman D E

机构信息

The Leukemia and Bone Marrow Transplantation Program of British Columbia: Division of Hematology, British Columbia Cancer Agency, Vancouver Hospital and Health Sciences Centre and the University of British Columbia, Canada.

出版信息

Br J Haematol. 1997 Jul;98(1):177-85. doi: 10.1046/j.1365-2141.1997.1863003.x.

DOI:10.1046/j.1365-2141.1997.1863003.x
PMID:9233582
Abstract

Isolated gain of chromosome 14 (trisomy 14 or +14) has been reported in myeloid malignancy. Seven cases were identified by review of all diagnostic bone marrow specimens with cytogenetics performed at our institution from 1983 to 1995. Median age was older (72 years) and diagnosis was myelodysplasia in the majority of cases. Although trilineage dysplasia occurred, platelet counts were relatively well preserved (median 131 x 10(9)/l). Mosaic karyotype (normal plus abnormal metaphases) was seen in the majority of cases, and survival from diagnosis was short (<2 years). These features are consistent with data from 30 previously published cases, and support the hypothesis that trisomy 14 occurs as a non-random cytogenetic abnormality in association with myeloid malignancy.

摘要

在髓系恶性肿瘤中已有关于14号染色体孤立性增加(14三体或+14)的报道。通过回顾1983年至1995年在我们机构进行细胞遗传学检查的所有诊断性骨髓标本,确定了7例病例。中位年龄较大(72岁),大多数病例诊断为骨髓发育异常。虽然出现了三系发育异常,但血小板计数相对保存较好(中位数为131×10⁹/L)。大多数病例可见嵌合核型(正常加异常中期相),从诊断开始的生存期较短(<2年)。这些特征与之前发表的30例病例的数据一致,并支持14三体作为与髓系恶性肿瘤相关的非随机细胞遗传学异常而发生的假说。

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Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
胚系 ATG2B 和 GSKIP 基因重复导致家族性髓系恶性肿瘤。
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Trisomy 14 as a sole chromosome abnormality is associated with older age, a heterogenous group of myeloid neoplasms with dysplasia, and a wide spectrum of disease progression.14号染色体三体作为唯一的染色体异常与高龄、一组具有发育异常的异质性髓系肿瘤以及广泛的疾病进展相关。
J Biomed Biotechnol. 2010;2010:365318. doi: 10.1155/2010/365318. Epub 2011 Jan 20.