Trisomy 21 in neoplastic cells.

Trisomy 21 in neoplastic cells.
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肿瘤细胞中的 21 三体。

DOI:
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发表时间:
2005
期刊:
American journal of medical genetics. Supplement
影响因子:
--
通讯作者:
N. Mandahl
N. Mandahl
中科院分区:
--
文献类型:
--
作者:
F. Mitelman;S. Heim;N. Mandahl

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在细胞遗传学文献中已知的10,625例具有染色体畸变的人类肿瘤中,有642例描述了作为获得性克隆染色体改变的21三体。642例中共有590例(92%)为血液系统疾病和恶性淋巴瘤。21三体的发生率在急性髓性白血病(AML)、慢性髓性白血病、骨髓增生性疾病、骨髓增生异常综合征、慢性淋巴组织增生性疾病和恶性淋巴瘤中相似(4.1%-6.7%);在急性淋巴细胞白血病(ALL)中显著较高(14.8%)。在大多数情况下,额外的21号染色体与其他数量和/或结构变化一起存在。获得性21三体是唯一的核型异常,仅占0.4%。21三体从未被报道为实体瘤中唯一的异常。细胞遗传学文献包含62例体质性21三体和恶性疾病的信息,其中肿瘤细胞已通过显带技术进行了分析。62例患者中有34例患有AML,16例患有ALL,2例患有急性未分化白血病。52例白血病唐氏综合征(DS)病例占急性白血病总数的1.4%,这一比例过高,与DS中白血病发展的风险普遍增加平行。63%的ALL患者和79%的AML患者在体质性21三体综合征上有额外的变化。这些包括几种典型的原发性白血病相关畸变:AML中的5 q-、7 q-、+8和t(8;21),以及ALL中的t(1;19)、t(4;11)、6 q-和14 q+。因此,看来,获得性核型变化的模式是相似的患者与DS和个人与正常的宪法核型。
Trisomy 21 as an acquired clonal chromosome change has been described in 642 of the 10,625 human neoplasms with chromosome aberrations known from the cytogenetic literature. A total of 590 of the 642 cases (92%) are hematologic disorders and malignant lymphomas. The incidence of trisomy 21 is similar (4.1%-6.7%) in acute myeloid leukemia (AML), chronic myeloid leukemia, myeloproliferative disorders, myelodysplastic syndromes, chronic lymphoproliferative disorders, and malignant lymphomas; it is substantially higher (14.8%) in acute lymphocytic leukemia (ALL). In most cases, the extra chromosome 21 is present together with other numerical and/or structural changes. Acquired trisomy 21 is the only karyotypic abnormality in only 0.4%. Trisomy 21 has never been reported as the sole anomaly in a solid tumor. The cytogenetic literature contains information on 62 patients with constitutional trisomy 21 and a malignant disorder in which the tumor cells have been analyzed by banding techniques. Thirty-four of the 62 patients had AML, 16 had ALL, and 2 had acute undifferentiated leukemia. The 52 leukemic Down syndrome (DS) cases account for 1.4% of the total acute leukemias, an overrepresentation that parallels the generally increased risk of leukemia development in DS. Sixty-three percent of the ALL patients and 79% of those with AML had additional changes superimposed on constitutional trisomy 21. These included several of the characteristic primary leukemia-associated aberrations: 5q-, 7q-, +8, and t(8;21) in AML, and t(1;19), t(4;11), 6q-, and 14q + in ALL. Thus, it seems that the pattern of acquired karyotypic changes is similar in patients with DS and in individuals with a normal constitutional karyotype.
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