Qian Jun, Xue Yongquan, Pan Jinlan, Cen Jiannong, Wang Wei, Chen Zixing
Leukemia Research Division, Jiangsu Institute of Hematology, First Affiliated Hospital, Soochow University, Suzhou, People's Republic of China.
Int J Hematol. 2005 Feb;81(2):142-7. doi: 10.1532/ijh97.a10412.
Refractory thrombocytopenia (RTC) is an unusual subtype of myelodysplastic syndrome (MDS) that initially presents as chronic pure thrombocytopenia. Because of the lack of distinguishable dysplasia, RTC has often been misdiagnosed as idiopathic thrombocytopenic purpura. We describe the case of a patient with RTC and trisomy 8 for whom a bone marrow mononuclear cell (BMNC) gene expression profile was obtained by means of a complementary DNA microarray analysis. Compared with the healthy control subject, the RTC patient differentially expressed 105 genes, of which 88 were down-regulated and 17 were up-regulated. The expression pattern of 16 genes, including those for RNA helicase-related protein (RNAHP), heat shock 105kD (HSP105B), interferon-related developmental regulator 1 (IFRD1), cyclin C (CCNC), and DNA-damage-inducible transcript 3 (DDIT3), which are usually seen in BMNCs from typical MDS patients, was observed in this case. However, this RTC patient exhibited an expression pattern distinct from that of other MDS patients. We suggest that RTC be classified as a subtype of MDS on the basis of its characteristic clinical-hematologic features and specific molecular basis.
难治性血小板减少症（RTC）是骨髓增生异常综合征（MDS）的一种罕见亚型，最初表现为慢性单纯性血小板减少症。由于缺乏可辨别的发育异常，RTC常被误诊为特发性血小板减少性紫癜。我们描述了一例患有RTC和8号染色体三体的患者，通过互补DNA微阵列分析获得了其骨髓单个核细胞（BMNC）基因表达谱。与健康对照受试者相比，该RTC患者有105个基因差异表达，其中88个基因下调，17个基因上调。在该病例中观察到了16个基因的表达模式，包括RNA解旋酶相关蛋白（RNAHP）、热休克105kD（HSP105B）、干扰素相关发育调节因子1（IFRD1）、细胞周期蛋白C（CCNC）和DNA损伤诱导转录本3（DDIT3）等基因，这些基因通常在典型MDS患者的BMNC中可见。然而，该RTC患者表现出与其他MDS患者不同的表达模式。我们建议根据其特征性临床血液学特征和特定分子基础将RTC归类为MDS的一种亚型。
