Ganguly Bani Bandana, Dolai Tuphan Kanti, De Rajib, Kadam Nitin N
MGM Center for Genetic Research and Diagnosis, MGM New Bombay Hospital, Navi Mumbai, Maharashtra, India.
Department of Hematology, NRS Medical College, Kolkata, India.
J Cancer Res Ther. 2016 Jul-Sep;12(3):1203-1206. doi: 10.4103/0973-1482.197563.
Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q), monosomy 5/7, trisomy 8/19, i(17q), and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p), der(12) dic(12;?19), +15, -18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q)/-17, der(12p), del(5q26), del(7q36), and del(20q11) indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.
骨髓增生异常综合征（MDS）是一种异质性的癌前病变，其特征为血细胞减少、造血无效、骨髓发育异常以及进展为急性髓系白血病的风险。细胞遗传学异常，包括del(3q/5q/7q/11q/12p/20q)、5号或7号染色体单体、8号或19号染色体三体、i(17q)以及-Y，是诊断和风险分层的指标。本病例表现为双血细胞减少，伴有高度复杂的染色体重排，在数量和结构组合上存在变异性。染色体分析在未刺激的骨髓培养及G显带后进行。除了已知的MDS畸变外，还记录到der(9p)、der(12) dic(12;?19)、+15、-18以及环状和标记染色体，每个细胞至少有九条异常染色体。据我们所知，这是首例单个个体出现所有MDS畸变的病例。结合当前的MDS研究对该病例进行了讨论。在本病例中，i(17q)/-17、der(12p)、del(5q26)、del(7q36)和del(20q11)表明TP53、ETV6、IDH2、EZH2和SRSF2基因可能发生改变，这些基因与发病机制、遗传不稳定性、克隆进化以及疾病进展有关。
