Wyandt H E, Chinnappan D, Ioannidou S, Salama M, O'Hara C
Center for Human Genetics, Boston University School of Medicine 02118, USA.
Cancer Genet Cytogenet. 1998 Apr 15;102(2):114-24. doi: 10.1016/s0165-4608(97)00355-5.
Stored, fixed cell suspensions of bone marrows from 70 patients karyotyped over a three-year period for myelodysplastic syndrome (MDS) or related hematologic conditions were retrospectively studied in two series using centromeric probes for chromosomes 7 and 8. Series I consisted of patient samples with numerical and/or structural abnormalities of chromosomes 7 or 8, matched with chromosomally normal samples from about the same time period. Series II consisted of consecutive MDS patient samples as well as patient samples in which one or more cells had numerical or structural abnormalities of 7 and 8. In both series, probes for chromosomes 7 and 8 were applied in each case and at least 100 nuclei were scored for each probe for the distribution of one, two, or three signals. Twenty-seven cases had clonal abnormalities by routine cytogenetics (RC): 12 with monosomy 7; one with monosomy 8; five with trisomy 8; nine with clonal abnormalities other than 7 or 8 aneuploidy. Eleven cytogenetically normal cases gave abnormal interphase FISH (IF) results; one was subsequently confirmed by metaphase FISH analysis to have a clonal structural abnormality of chromosome 7; one case with a trisomy 8 clone, in remission by RC, showed 35% of cells by IF with three signals for chromosome 8; one case had heteromorphic chromosomes by FISH. Of eight remaining cases, five (four with -7 and one with +8 by IF) were among 22 cases of cytogenetically normal MDS. Three remaining cases (two with +8 and one with both +7 and +8 by IF) had AML or MPD. The high rate of possible undetected monosomy 7, among MDS cases in particular, suggests all MDS cases should be screened by IF.
对70例患者的骨髓固定细胞悬液进行回顾性研究，这些患者在三年时间里因骨髓增生异常综合征（MDS）或相关血液系统疾病进行了染色体核型分析。研究分为两个系列，使用7号和8号染色体的着丝粒探针。系列I包括7号或8号染色体存在数目和/或结构异常的患者样本，并与同期染色体正常的样本进行匹配。系列II包括连续的MDS患者样本以及一个或多个细胞存在7号和8号染色体数目或结构异常的患者样本。在两个系列中，对每个病例都应用了7号和8号染色体的探针，每个探针至少对100个细胞核进行信号分布评分，信号数为一个、两个或三个。27例通过常规细胞遗传学（RC）检测有克隆异常：12例为7号染色体单体；1例为8号染色体单体；5例为8号染色体三体；9例为除7号或8号染色体非整倍体以外的克隆异常。11例细胞遗传学正常的病例间期荧光原位杂交（IF）结果异常；1例随后通过中期荧光原位杂交分析证实有7号染色体的克隆结构异常；1例8号染色体三体克隆且RC检测处于缓解期的病例，IF检测显示35%的细胞8号染色体有三个信号；1例通过荧光原位杂交检测到异形染色体。在其余8例病例中，5例（4例IF检测为-7，1例为+8）属于22例细胞遗传学正常的MDS病例。其余3例（2例IF检测为+8，1例为+7和+8）患有急性髓系白血病（AML）或骨髓增殖性疾病（MPD）。特别是在MDS病例中，可能未检测到的7号染色体单体发生率较高，这表明所有MDS病例都应通过IF进行筛查。
