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与髓系恶性肿瘤相关的16号染色体异常。

Chromosome 16 abnormalities associated with myeloid malignancies.

作者信息

Campbell L J, Challis J, Fok T, Garson O M

机构信息

Department of Cytogenetics, St. Vincent's Hospital, Melbourne, Australia, Victoria.

出版信息

Genes Chromosomes Cancer. 1991 Jan;3(1):55-61. doi: 10.1002/gcc.2870030110.

Abstract

Twenty-six patients who had cytogenetic analyses performed for myeloid malignancies at St. Vincent's Hospital over a 6-year period were found to have an inversion abnormality of chromosome 16 (25 patients) or t(16;16) (1 patient). Only 16 patients had all the features of M4Eo, while the other 10 patients had diagnoses of M2, M4, M5, RAEB, and RAEB-T; six of these had abnormal eosinophils. Thus, abnormal eosinophils were present in 22 of 26 patients (85%). Thirteen patients had additional cytogenetic abnormalities at diagnosis, the commonest being +8 in 5, del(7q) in 4, and +21 in 3. Twenty-three patients received chemotherapy and 20 (87%) achieved complete remission. The median survival of the treated group was 188 weeks with a 61% 2-year and 45% 5-year survival. No significant difference in survival was observed between those patients with a diagnosis of M4Eo and those with other diagnoses suggesting that it is the abnormality of chromosome 16 which confers an improved prognosis. Additional cytogenetic abnormalities present at diagnosis did not affect prognosis. CNS relapse was observed in only two patients (8%), thus indicating no increased incidence of this complication. This study supports the premise that a chromosome abnormality involving 16p13 and 16q22 defines a good prognosis subset of myeloid leukemia despite morphological variations.

摘要

在6年期间,圣文森特医院对26例因髓系恶性肿瘤进行细胞遗传学分析的患者进行了研究,发现其中25例存在16号染色体倒位异常,1例存在t(16;16)。只有16例患者具有M4Eo的所有特征,而其他10例患者的诊断为M2、M4、M5、RAEB和RAEB-T;其中6例嗜酸性粒细胞异常。因此,26例患者中有22例(85%)存在嗜酸性粒细胞异常。13例患者在诊断时还存在其他细胞遗传学异常,最常见的是5例+8、4例del(7q)和3例+21。23例患者接受了化疗,20例(87%)实现了完全缓解。治疗组的中位生存期为188周,2年生存率为61%,5年生存率为45%。诊断为M4Eo的患者与其他诊断的患者在生存率上没有显著差异,这表明是16号染色体异常导致了预后改善。诊断时存在的其他细胞遗传学异常并不影响预后。仅2例患者(8%)出现中枢神经系统复发,因此表明该并发症的发生率没有增加。这项研究支持了这样一个前提,即尽管形态学存在差异,但涉及16p13和16q22的染色体异常定义了髓系白血病的一个预后良好的亚组。

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