Pathobiology. 2019;86(1):53-61. doi: 10.1159/000490311. Epub 2018 Jul 26.
The updated 2016 WHO classification of hematopoietic tumors has a new category: "myeloid neoplasms with germline predisposition." These entities are rare, but are also currently underdiagnosed and underreported. Recognition is critical for appropriate clinical evaluation and therapy, with potential implications for the patient's entire family. The WHO includes 3 categories of myeloid neoplasms with germline predisposition: neoplasms without preexisting conditions, neoplasms with a history of thrombocytopenia, and neoplasms with other organ dysfunction. Specialized molecular testing is frequently necessary to make the diagnosis, as the presence of one of the implicated mutations is not sufficient for diagnosis and should be confirmed with germline DNA evaluation. Many families have unique mutations that are not detected by targeted sequencing panels. Periodic bone marrow (BM) examinations are recommended to assess patients' baseline morphology and rule out evidence of disease progression. Thus, accurate diagnosis requires a careful recording of clinical history, a BM morphology evaluation, and advanced molecular testing.
更新后的 2016 年世界卫生组织造血肿瘤分类有一个新类别：“具有种系倾向的髓系肿瘤”。这些实体很少见，但目前也诊断不足和报告不足。识别对于适当的临床评估和治疗至关重要，可能对患者的整个家庭都有影响。世界卫生组织将具有种系倾向的髓系肿瘤分为 3 类：无前期疾病的肿瘤、有血小板减少症病史的肿瘤和有其他器官功能障碍的肿瘤。通常需要进行专门的分子检测才能做出诊断，因为存在一个相关突变不足以诊断，并且应该通过种系 DNA 评估来确认。许多家庭具有独特的突变，这些突变无法通过靶向测序面板检测到。建议定期进行骨髓 (BM) 检查，以评估患者的基线形态并排除疾病进展的证据。因此，准确的诊断需要仔细记录临床病史、BM 形态评估和高级分子检测。
