University of Colorado School of Medicine, Aurora, Colorado.
Dartmouth Geisel School of Medicine, Lebanon, New Hampshire.
Pediatr Blood Cancer. 2020 Oct;67(10):e28652. doi: 10.1002/pbc.28652. Epub 2020 Aug 11.
Myelodysplastic syndromes (MDS) represent a group of clonal hematopoietic stem cell disorders that commonly progress to acute myeloid leukemia (AML). The diagnostics, prognostics, and treatment of adult MDS are established but do not directly translate to children and adolescents. Pediatric MDS is a rare disease, characterized by unique cytogenetics and histology compared with adult MDS, and often arises secondary to germline predisposition or cytotoxic exposures. Our objective was to highlight aspects of diagnosis/management that would benefit from further systematic review toward the development of clinical practice guidelines for pediatric MDS.
The North American Pediatric Aplastic Anemia Consortium (NAPAAC) is composed of collaborative institutions with a strong interest in pediatric bone marrow failure syndromes and hematologic malignancies. The NAPAAC MDS working group developed a national survey distributed to 35 NAPAAC institutions to assess data on (1) clinical presentation of pediatric MDS, (2) diagnostic evaluation, (3) criteria for diagnosis, (4) supportive care and treatment decisions, and (5) role of hematopoietic stem cell transplantation (HSCT).
Twenty-eight of 35 institutions returned the survey. Most centers agreed on a common diagnostic workup, though there was considerable variation regarding the criteria for diagnosis. Although there was consensus on supportive care, treatment strategies, including the role of cytoreduction and HSCT, varied across centers surveyed.
There is lack of national consensus on diagnosis and treatment of pediatric MDS. This survey identified key aspects of MDS management that will warrant systematic review toward the goal of developing national clinical practice guidelines for pediatric MDS.
骨髓增生异常综合征（MDS）是一组克隆性造血干细胞疾病，通常进展为急性髓系白血病（AML）。成人 MDS 的诊断、预后和治疗已经确立，但不能直接转化为儿童和青少年。儿科 MDS 是一种罕见疾病，与成人 MDS 相比具有独特的细胞遗传学和组织学特征，通常继发于种系易感性或细胞毒性暴露。我们的目标是强调在制定儿科 MDS 临床实践指南方面需要进一步系统评价的诊断/管理方面。
北美儿科再生障碍性贫血协会（NAPAAC）由对儿科骨髓衰竭综合征和血液恶性肿瘤有浓厚兴趣的合作机构组成。NAPAAC MDS 工作组制定了一项全国性调查，分发给 35 个 NAPAAC 机构，以评估儿科 MDS 的（1）临床表现、（2）诊断评估、（3）诊断标准、（4）支持性护理和治疗决策、（5）造血干细胞移植（HSCT）的作用。
35 个机构中有 28 个返回了调查。尽管在诊断标准方面存在相当大的差异，但大多数中心都同意采用共同的诊断方案。尽管在支持性护理方面达成了共识，但治疗策略，包括减细胞治疗和 HSCT 的作用，在被调查的中心之间存在差异。
在儿科 MDS 的诊断和治疗方面缺乏全国共识。这项调查确定了 MDS 管理的关键方面，这些方面将需要系统评价，以制定儿科 MDS 的国家临床实践指南。
