There are a variety of rare hematologic malignancies and germline predispositions syndromes that occur in children and adolescent young adults (AYAs). These entities are important to recognize, as an accurate diagnosis is essential for risk assessment, prognostication, and treatment. This descriptive review summarizes rare hematologic malignancies, myelodysplastic neoplasms, and germline predispositions syndromes that occur in children and AYAs. We discuss the unique biology, characteristic genomic aberrations, rare presentations, diagnostic challenges, novel treatments, and outcomes associated with these rare entities.
儿童及青少年群体中存在多种罕见的血液系统恶性肿瘤与遗传易感综合征。准确识别这些疾病至关重要,因为精确诊断是进行风险评估、预后判断及制定治疗方案的基础。本描述性综述系统总结了儿童及青少年中发生的罕见血液系统恶性肿瘤、骨髓增生异常性肿瘤及遗传易感综合征,重点探讨了这些罕见疾病特有的生物学特征、典型基因组异常、特殊临床表现、诊断难点、新型治疗策略及相关临床结局。
Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults