Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21
Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21
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17 例短暂性骨髓生成异常和非体质 21 三体新生儿的临床、细胞遗传学和分子分析
DOI：
10.1002/pbc.28188
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发表时间：
2020
影响因子：
3.2
通讯作者：
Ito Etsuro
中科院分区：
文献类型：
--
作者：
Yuzawa Kentaro;Terui Kiminori;Toki Tsutomu;Kanezaki Rika;Kobayashi Akie;Sato Tomohiko;Kamio Takuya;Kudo Ko;Sasaki Shinya;Endo Mikiya;Ozono Shuichi;Nomura Keiko;Ito Etsuro
短暂性骨髓增生异常（TAM）是一种独特的骨髓增生性疾病，发生在患有21三体/唐氏综合征（DS）的新生儿中。虽然没有21三体的新生儿也会发生TAM，但这些患者的临床、细胞遗传学和分子特征尚不完全清楚。回顾性分析我院17例TAM合并21型非体质三体新生儿gata1突变的临床、细胞遗传学表现和gata1突变情况，并与64例TAM合并21型体质三体/DS新生儿gata1突变情况进行比较。结果17例患者中有5例（29%）出现ds临床特征。在所有患者中，诊断样本中均检测到21三体和gata1突变。中位随访时间为33个月（范围0 ~ 139个月），4例（24%）患者发生早期死亡（小于6个月）。TAM合并非体质21三体患者与TAM合并体质21三体/DS患者的总生存率和无事件生存率无显著差异（5年总生存率：76%±10% vs 53%±13%，P= 0.40； 5年无事件生存率：55%±13% vs 48%±12%，P= 0.90）。两组间进展为髓性白血病的五年累积发生率也相似（21% vs 24%，P= 0.80）。结论TAM合并非体质21三体患者与TAM合并体质21三体/DS患者具有相似的生物学和预后。即使在有TAM症状的正常新生儿中，也应考虑TAM的可能性，以便进行适当的治疗。
BackgroundTransient abnormal myelopoiesis (TAM) is a unique myeloproliferative disorder that occurs in neonates with constitutional trisomy 21/Down syndrome (DS). Although TAM also develops in neonates without constitutional trisomy 21, the clinical, cytogenetic, and molecular characteristics of those patients are not fully understood.ProcedureWe retrospectively evaluated the clinical and cytogenetic findings andGATA1mutation status of 17 neonates with TAM and nonconstitutional trisomy 21 tested forGATA1mutations at our institute, and compared the findings with those of 64 neonates with TAM and constitutional trisomy 21/DS.ResultsDS clinical features were observed in five of the 17 (29%) patients. In all patients, both trisomy 21 andGATA1mutations were detected in diagnostic samples. Over a median follow‐up of 33 (range, 0‐139) months, early death (< 6 months of age) occurred in four patients (24%). Overall and event‐free survivals were not significantly different between the patients with TAM and nonconstitutional trisomy 21 and those with TAM and constitutional trisomy 21/DS (five‐year overall survival: 76% ± 10% vs 53% ± 13%,P= 0.40; five‐year event‐free survival: 55% ± 13% vs 48% ± 12%,P= 0.90). The five‐year cumulative incidence of progression to myeloid leukemia of DS was also similar between the groups (21% vs 24%,P= 0.80).ConclusionsPatients with TAM and nonconstitutional trisomy 21 exhibited similar biology and outcomes to those with TAM and constitutional trisomy 21/DS. The possibility of TAM should be considered even in phenotypically normal neonates with TAM symptoms, for appropriate management.
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表型正常新生儿短暂性骨髓增殖性疾病后急性巨核细胞白血病的克隆核型进化
DOI：
--
发表时间：
2002
期刊：
Journal of pediatric hematology/oncology
影响因子：
--
作者：
J. Polski;C. Galambos;G. Gale;C. Dunphy;H. Evans;J. Batanian
通讯作者：
J. Batanian
影响因子：
2
作者：
Henry, E.;Walker, D.;Christensen, R. D.
通讯作者：
Christensen, R. D.
影响因子：
20.3
作者：
Xu, G;Nagano, M;Ito, E
通讯作者：
Ito, E
无唐氏综合症的暂时性新生儿骨髓增生性疾病并检测 GATA1 突变。
DOI：
--
发表时间：
2005
期刊：
Journal of pediatric hematology/oncology
影响因子：
--
作者：
I. Magalhães;A. Splendore;M. Emerenciano;M. S. Córdoba;J. Córdoba;P. A. Allemand;Í. Ferrari;M. Pombo
通讯作者：
M. Pombo
表型正常的多克隆 21 三体新生儿出现短暂性骨髓生成异常
影响因子：
2.1
作者：
Francesco Corazza;A. Astolfi;V. Libri;M. Franzoni;S. Serravalle;R. Alessandroni;F. Melchionda;A. Pession
通讯作者：
A. Pession