Department of Medical Oncology, Dana-Farber Cancer Institute Harvard Medical School, 450 Brookline Ave, Suite D1B30, Mayer 1B21, Boston, MA, 02215, USA.
Curr Hematol Malig Rep. 2012 Dec;7(4):310-20. doi: 10.1007/s11899-012-0140-3.
Just as a pawnshop owner who is unable to distinguish a genuine Rolex™ watch from a cheap knockoff courts financial ruin, the physician who fails to discriminate between authentic myelodysplastic syndromes (MDS) and conditions resembling MDS risks misinforming or harming patients. This review summarizes minimal criteria for diagnosing MDS and discusses common diagnostic challenges. MDS needs to be separated from numerous neoplastic and non-clonal hematologic disorders that can mimic MDS, including other myeloid neoplasms, nutritional deficiencies, toxin exposures, aplastic anemia, and inherited disorders (e.g., congenital sideroblastic anemia). Some distinctions are more critical therapeutically than others; e.g., recognizing B12 deficiency is more important than parsing high-risk MDS from erythroleukemia. Diagnostically ambiguous cases may be assigned holding-pattern terms, "idiopathic cytopenia(s) of undetermined significance" (ICUS) or "idiopathic dysplasia of undetermined significance" (IDUS), while awaiting clarifying information or further clinical developments. In the future, advances in molecular pathology will improve diagnostic accuracy, especially in morphologically non-descript cases.
就像一个无法区分真正劳力士手表和廉价仿冒品的当铺老板会面临财务破产一样，无法区分真性骨髓增生异常综合征 (MDS) 和类似 MDS 情况的医生也可能会向患者提供错误信息或造成伤害。本综述总结了 MDS 的最低诊断标准，并讨论了常见的诊断挑战。MDS 需要与许多可模仿 MDS 的肿瘤性和非克隆性血液疾病区分开来，包括其他髓系肿瘤、营养缺乏、毒素暴露、再生障碍性贫血和遗传性疾病（例如先天性铁粒幼细胞性贫血）。一些鉴别在治疗上比其他鉴别更为关键；例如，识别 B12 缺乏症比从红白血病中区分高危 MDS 更为重要。诊断上有疑问的病例可能会被分配暂存术语，“原因不明的特发性血细胞减少症”（ICUS）或“原因不明的特发性发育不良”（IDUS），同时等待澄清信息或进一步的临床发展。未来，分子病理学的进步将提高诊断准确性，尤其是在形态上不具特征的病例。
