Abstract：
Aplastic anemia (AA) is the prototypical bone marrow failure syndrome. In the current era of readily available \'molecular annotation\', application of comprehensive next-generation sequencing panels has generated novel insights into underlying pathogenetic mechanisms, potentially leading to improvements in personalized therapeutic approaches. New evidence has emerged as to the role of somatic loss of HLA class I allele expression in \'immune-mediated\' AA, associated molecular aberrations, and risk of clonal evolution. A deeper understanding has emerged regarding the role of \'myeloid\' gene mutations in this context, translating patho-mechanistic insights derived from wider clinical and translational research within the myeloid disorder arena. Here, we review contemporary \'tools\' which aid in confirmation of a diagnosis of AA, with an additional focus on their potential in guiding therapeutic options. A specific emphasis is placed upon interpretation and integration of this detailed diagnostic information and how this may inform optimal transplantation strategies.
摘要：
再生障碍性贫血（AA）是典型的骨髓衰竭综合征。在当前现成的“分子注释”时代，全面的下一代测序小组的应用对潜在的致病机制产生了新的见解，可能导致个性化治疗方法的改进。新的证据已经出现了关于HLAI类等位基因表达的体细胞丢失在免疫介导的AA中的作用，相关的分子畸变，和克隆进化的风险。关于“髓样”基因突变在这种情况下的作用，已经出现了更深入的理解，翻译来自髓样疾病领域更广泛的临床和转化研究的病理机制见解。这里,我们回顾了当代的“工具”，这些工具有助于确认AA的诊断，并进一步关注它们在指导治疗选择方面的潜力。特别强调的是解释和整合这些详细的诊断信息，以及如何提供最佳的移植策略。
