Departamento de Hematologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Braz J Med Biol Res. 2013 Jan;46(1):85-90. doi: 10.1590/1414-431x20122449. Epub 2013 Jan 11.
Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.
骨髓增生异常综合征（MDS）和幼年型粒单核细胞白血病（JMML）是影响儿童的罕见造血干细胞疾病。细胞遗传学在这些疾病的诊断中起着重要作用。我们在此报告巴西儿科骨髓增生异常综合征合作组（BCG-MDS-PED）细胞遗传学小组委员会的经验。我们分析了在 23 个不同细胞遗传学中心进行的 168 项细胞遗传学研究；其中 84 项研究是在确诊 MDS（原发性 MDS、继发性 MDS、JMML 和急性髓系白血病/MDS+唐氏综合征）患者中进行的。克隆异常在 MDS 病例中占 36.9%，细胞遗传学研究对于检测先天疾病和与其他髓系肿瘤的鉴别诊断很重要。这些数据表明合作组在继续教育方面的重要性，以避免延迟或误诊。
