Invernizzi Rosangela, Quaglia Federica, Porta Matteo Giovanni Della
Department of Internal Medicine, University of Pavia, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Mediterr J Hematol Infect Dis. 2015 May 1;7(1):e2015035. doi: 10.4084/MJHID.2015.035. eCollection 2015.
Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders characterized by dysplastic, ineffective, clonal and neoplastic hematopoiesis. MDS represent a complex hematological problem: differences in disease presentation, progression and outcome have necessitated the use of classification systems to improve diagnosis, prognostication, and treatment selection. However, since a single biological or genetic reliable diagnostic marker has not yet been discovered for MDS, quantitative and qualitative dysplastic morphological alterations of bone marrow precursors and peripheral blood cells are still fundamental for diagnostic classification. In this paper, World Health Organization (WHO) classification refinements and current minimal diagnostic criteria proposed by expert panels are highlighted, and related problematic issues are discussed. The recommendations should facilitate diagnostic and prognostic evaluations in MDS and selection of patients for new effective targeted therapies. Although, in the future, morphology should be supplemented with new molecular techniques, the morphological approach, at least for the moment, is still the cornerstone for the diagnosis and classification of these disorders.
骨髓增生异常综合征(MDS)是造血干细胞疾病,其特征为发育异常、无效、克隆性和肿瘤性造血。MDS是一个复杂的血液学问题:疾病表现、进展和结局的差异使得必须使用分类系统来改善诊断、预后评估和治疗选择。然而,由于尚未发现用于MDS的单一生物学或基因可靠诊断标志物,骨髓前体细胞和外周血细胞的定量和定性发育异常形态学改变仍是诊断分类的基础。本文重点介绍了世界卫生组织(WHO)分类的改进以及专家小组提出的当前最低诊断标准,并讨论了相关问题。这些建议应有助于MDS的诊断和预后评估以及选择新的有效靶向治疗的患者。尽管未来形态学应辅以新的分子技术,但至少目前形态学方法仍是这些疾病诊断和分类的基石。