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单体核型(MK)目前被认为与骨髓增生异常综合征(MDS)的不良预后相关。本研究的目的是调查我院连续成功实施染色体核型分析的初发MDS患者中常染色体单体缺失累及的染色体谱系并分析与其相应的临床病理表型。采用回顾性分析方法收集了我院血液科细胞遗传室自2004年2月至2012年5月连续成功实施染色体核型分析的初发MDS患者细胞遗传学结果,并根据外周血分类计数、骨髓抽吸液涂片、骨髓活检及细胞遗传学分析结果按WHO分类标准进行分型。结果表明,初发MDS患者1 532例中异常核型者538例(35.1%),其中包括证实至少存在1条常染色体单体缺失患者202例。在202例中47例(23.3%)仅表现为单独具有单体异常,其余155例常染色体单体异常并发于2种异常(n=33,21.3%)或3种及以上异常即复杂核型(n=112,78.7%)。单体核型异常几乎累及所有22条常染色体,但7号染色体单体累及频率最高,在所有单独常染色体单体缺失病例中约达66.0%,其并发于2种异常或复杂核型中检出率也是最高的,其余并发于2种异常或复杂核型可重现的单体异常依次累及13号(12.5%),18号(8.3%),20号(6.3%),17号(7.3%),21号(5.2%),12号(5.2%)和5号(5.2%)。单独常染色体单体缺失病例的临床病理表型分析中RCMD(n=20,13例为-7),RAEB(n=12,11例为-7),RA(n=9,3例为-7),CMML(n=6,4例为-7)。单独20单体(n=7,3例RA,4例RCMD),单独20单体未见于RAEB或CMML病例。结论:常染色体单体缺失的高比例提示其对MDS发病的潜在影响。缺失主要累及7号染色体,提示7号染色体相关基因单倍体数量不足可能是MDS发病机制之一。累及其他整条染色体的单倍体数量不足可能不利于恶性克隆存活,除非其有害效应能被其他遗传学畸变效应抵消,这表明并发于2种异常或复杂核型可重现的单体异常累及的染色体谱系更为广泛。20号染色体单体缺失是相对良好的预后特征。
Monomeric karyotypes (MKs) are currently thought to be associated with poor prognosis of myelodysplastic syndromes (MDSs). The purpose of this study was to investigate the chromosomal lineages involved in the deletion of autosomal haplotypes in newly diagnosed MDS patients who had successfully performed chromosome karyotyping in our hospital and to analyze their corresponding clinical pathological phenotypes. We retrospectively analyzed the cytogenetic results of MDS patients who had successfully performed chromosome karyotype analysis from February 2004 to May 2012 in our hospital hematology cell genetic room. According to the classification of peripheral blood, bone marrow pumping Absorption smear, bone marrow biopsy and cytogenetic analysis results according to WHO classification criteria. The results showed that 538 (35.1%) of the anomalous karyotypes among the 1 532 cases of newly diagnosed MDS patients included 202 confirmed that there was at least one autosomal deletion. Of the 202 patients, 47 (23.3%) showed only monomeric anomalies alone and the other 155 were associated with two abnormalities (n = 33, 21.3%) or three or more aberrant karyotypes (n = 112,78.7%). Monomeric karyotypic abnormalities almost involve all 22 autosomes, but chromosome 7 has the highest frequency of haplotypes, accounting for about 66.0% of all cases of single autosomal deletion, which is complicated by two abnormal or complex karyotypes The other abnormalities that occurred in two kinds of abnormal or complex karyotypes included 13 (12.5%), 18 (8.3%), 20 (6.3%) and 17 %), No. 21 (5.2%), No. 12 (5.2%) and No. 5 (5.2%). In the clinicopathological analysis of single autosomal deletion cases, RCMD (n = 20 and 13, -7), RAEB (n = 12 and 11, -7), RA 7), CMML (n = 6,4 for -7). Twenty individual monomers (n = 7, 3 RA, 4 RCMD) alone were not seen in RAEB or CMML cases. Conclusion: The high proportion of autosomal deletion suggests a potential impact on the pathogenesis of MDS. The deletion mainly affects chromosome 7, suggesting that the haploid number associated with chromosome 7 may be one of the pathogenesis of MDS. Insufficient haploids that affect other entire chromosomes may not be conducive to the survival of malignant clones unless their detrimental effects can be offset by other genetic aberrations, suggesting abnormalities in both mononuclear and reproducible karyotypes The chromosomal lineage is more extensive. Loss of chromosome 20 is a relatively good prognostic feature.