Bacher Ulrike, Schanz Julie, Braulke Friederike, Haase Detlef
Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
Mediterr J Hematol Infect Dis. 2015 May 1;7(1):e2015034. doi: 10.4084/MJHID.2015.034. eCollection 2015.
The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.
核型是国际预后评分系统（IPSS）和修订后的IPSS-R（IPSS-R）的主要基石之一，这两个系统在骨髓增生异常综合征（MDS）患者的预后评估中应用最为广泛。MDS中最常见的细胞遗传学异常，即del(5q)、-7/del(7q)、+8、复杂核型或-Y，其预后影响已得到广泛研究。IPSS-R还考虑了一些不太常见的异常，如del(11q)、17号等臂染色体、+19或3q异常。然而，在之前一项MDS研究中已鉴定出600多种不同的细胞遗传学类别。本综述旨在关注MDS患者中选定的罕见细胞遗传学异常。例如，11号染色体的数目增加（表明疾病进展迅速）、14号染色体或14q的数目增加（预后介于中等至良好之间）、-X（女性患者，预后中等）或21号染色体的数目异常。还考虑了结构异常，例如与骨髓衰竭综合征相关且对免疫抑制治疗反应良好的del(13q)。这些以及其他罕见的细胞遗传学异常应纳入现有的预后系统，如IPSS-R。然而，由于病例数量极少，这显然依赖于国际合作。希望本文将有助于开启这一进程。
