Mertens F, Johansson B, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Genes Chromosomes Cancer. 1994 Aug;10(4):221-30. doi: 10.1002/gcc.2870100402.
In order to ascertain the frequency and distribution of isochromosomes in neoplasia, we surveyed the cytogenetic data from 20,007 tumors with clonal chromosome aberrations reported in the literature. Tumor types for which at least 50 cases with acquired aberrations and 10 cases with isochromosomes had been reported were selected, yielding a total of 18,160 neoplasms. Of these, 1,792 cases (9.9%) displayed a total of 2,014 isochromosomes. The 9 most common isochromosomes (detected in at least 50 cases) were, in decreasing order of frequency, i(17q), i(8q), i(1q), i(12p), i(6p), i(7q), i(9q), i(5p), and i(21q). The frequency of isochromosomes varied among the different tumor types, with the highest incidence in germ cell neoplasms (60%) and the lowest in chronic myeloproliferative disorders (2.3%). Also, the spectrum of isochromosomes differed among the neoplasms. The most common isochromosomes in the different tumor types were i(11q), i(17q), and i(21q) in acute myeloid leukemia; i(9q), i(17q), and i(22q) in chronic myeloid leukemia; i(17q) in chronic myeloproliferative disorders; i(X)(q13), i(17q), and i(21q) in myelodysplastic syndromes; i(7q), i(9q), and i(17q) in acute lymphoblastic leukemia; i(1q), i(7q), i(8q), and i(17q) in chronic lymphoproliferative disorders; i(1q), i(6p), i(9p), i(17q), and i(21q) in Hodgkin's disease; i(1q), i(6p), and i(17q) in non-Hodgkin's lymphoma; i(1q), i(8q), and i(17q) in adenocarcinoma; i(1q), i(3q), i(5p), and i(8q) in squamous cell carcinoma; i(5p), i(8q), and i(11q) in transitional cell carcinoma; i(1q), i(7q), and i(17q) in Wilms' tumor; i(1q), i(12p), and i(17q) in germ cell neoplasms; i(1p), i(1q), i(6p), and i(17q) in sarcoma; i(5p), i(6p), i(7p), and i(21q) in mesothelioma; i(1q), i(6p), and i(17q) in malignant neurogenic neoplasms; i(1q), i(6p), and i(17q) in retinoblastoma; and i(1q), i(6p), and i(8q) in malignant melanoma.
为了确定异染色体在肿瘤中的出现频率和分布情况,我们查阅了文献中报道的20,007例具有克隆性染色体畸变的肿瘤的细胞遗传学数据。选择了至少报告了50例获得性畸变和10例异染色体的肿瘤类型,共得到18,160例肿瘤。其中,1,792例(9.9%)共显示出2,014条异染色体。9条最常见的异染色体(至少在50例中检测到)按频率递减顺序依次为i(17q)、i(8q)、i(1q)、i(12p)、i(6p)、i(7q)、i(9q)、i(5p)和i(21q)。异染色体的频率在不同肿瘤类型中有所不同,在生殖细胞肿瘤中发生率最高(60%),在慢性骨髓增殖性疾病中最低(2.3%)。此外,不同肿瘤中的异染色体谱也有所差异。急性髓系白血病中最常见的异染色体为i(11q)、i(17q)和i(21q);慢性髓系白血病中为i(9q)、i(17q)和i(22q);慢性骨髓增殖性疾病中为i(17q);骨髓增生异常综合征中为i(X)(q13)、i(17q)和i(21q);急性淋巴细胞白血病中为i(7q)、i(9q)和i(17q);慢性淋巴细胞增殖性疾病中为i(1q)、i(7q)、i(8q)和i(17q);霍奇金淋巴瘤中为i(1q)、i(6p)、i(9p)、i(17q)和i(21q);非霍奇金淋巴瘤中为i(1q)、i(