2016年世界卫生组织对“孤立性5号染色体长臂缺失的骨髓增生异常综合征”的修订定义；单一与双重细胞遗传学异常的预后意义

The 2016 revised World Health Organization definition of 'myelodysplastic syndrome with isolated del(5q)'; prognostic implications of single versus double cytogenetic abnormalities.

作者信息

Gurney Mark, Patnaik Mrinal M, Hanson Curtis A, Litzow Mark R, Al-Kali Aref, Ketterling Rhett P, Tefferi Ayalew, Gangat Naseema

机构信息

Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

Division of Hematology, Mayo Clinic, Rochester, MN, USA.

出版信息

Br J Haematol. 2017 Jul;178(1):57-60. doi: 10.1111/bjh.14636. Epub 2017 Apr 17.

DOI:10.1111/bjh.14636

PMID:28419466

Abstract

The definition of the myelodysplastic syndrome (MDS) subtype 'MDS with isolated del(5q)' was expanded to include cases with one additional non-chromosome 7 based cytogenetic abnormality in the 2016 revised World Health Organization classification. This study applied the revised definition to a large primary MDS cohort, and evaluated the prognostic impact of the additional cytogenetic abnormality. Seventy-two of 1067 patients (7%) met the 'MDS with isolated del(5q)' criteria, 11 (1%) of whom had an additional cytogenetic abnormality. There was no survival difference between patients in whom del(5q) occurred alone, compared to those with one additional cytogenetic abnormality (P = 0·52).

摘要

骨髓增生异常综合征（MDS）亚型“孤立性5号染色体长臂缺失（del(5q)）的MDS”的定义在2016年修订的世界卫生组织分类中进行了扩展，纳入了另外伴有一项非7号染色体相关细胞遗传学异常的病例。本研究将修订后的定义应用于一个大型原发性MDS队列，并评估了额外细胞遗传学异常对预后的影响。1067例患者中有72例（7%）符合“孤立性del(5q)的MDS”标准，其中11例（1%）伴有一项额外的细胞遗传学异常。孤立发生del(5q)的患者与伴有一项额外细胞遗传学异常的患者之间的生存率无差异（P = 0·52）。