PDF(Pubmed)
Abstract：
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.
摘要：
在儿童和青少年年轻人（AYAs）中发生了多种罕见的血液恶性肿瘤和种系易感性综合征。这些实体必须认识到，因为准确的诊断对于风险评估至关重要，预测,和治疗。这篇描述性综述总结了罕见的血液恶性肿瘤，骨髓增生异常肿瘤,以及发生在儿童和AYAs中的种系易感综合征。我们讨论独特的生物学，特征性基因组畸变，罕见的演讲，诊断挑战，新颖的治疗方法,以及与这些稀有实体相关的结果。
