Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971
Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971
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DOI：
10.1182/blood-2011-04-350017
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发表时间：
2011-12-22
期刊：
影响因子：
20.3
通讯作者：
Smith, Franklin O.
中科院分区：
文献类型：
--
作者：
Gamis, Alan S.;Alonzo, Todd A.;Smith, Franklin O.
短暂性骨髓增生性疾病（TMD）是一种巨核细胞白血病，仅限于21三体新生儿，尽管在某些情况下是致命的，但其特征在于其自发消退。急性髓细胞白血病（AML）的晚期发展发生在一些人中。前瞻性入组（n = 135）通过使用统一的监测和干预指南阐明了诊断为TMD的唐氏综合征（DS）患者的自然病史。诊断时常见的是白细胞增多、外周原始细胞超过骨髓原始细胞百分比和肝肿大。在有危及生命的症状的患者中，大多数（n = 29/38; 76%）接受干预治疗，直到症状减轻，然后进行类似的监测。器官肿大伴心肺功能损害最常导致干预（43%）。死亡发生在21%，但只有10%是由于TMD（干预与观察患者：13/14 vs 1/15，因为TMD）。在那些单独观察的患者中，外周原始细胞和所有其他TMD症状分别在诊断后36天和49天的中位数时清除。根据肝肿大伴或不伴危及生命的症状的诊断性临床表现，确定了3组不同的生存率：无任何发现的低风险（38%），仅肝肿大的中等风险（40%），以及两者都有的高风险（21%）;总生存率：分别为92% ± 8%、77% ± 12%和51% ± 19%; P
Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% +/- 8%, 77% +/- 12%, and 51% +/- 19%, respectively; P