Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.
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Wiskott-Aldrich 综合征的临床表现与幼年型粒单核细胞白血病相似。
DOI：
10.1002/pbc.24359
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Kojima S and et al.
中科院分区：
文献类型：
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作者：
Yoshimi A;Kamachi Y;Kojima S and et al.
Wiskott-Aldrich综合征(Wiskott-Aldrich综合征)是一种罕见的X连锁免疫缺陷，由Wasp基因缺陷引起。本报告描述了7例男性AS患儿，最初表现为外周血中白细胞增多、单核细胞增多、髓系和红系前体细胞增多以及骨髓发育不良，最初与幼年粒单核细胞白血病(JMML)难以区分。这些患者中有4例没有脾肿大，这在JMML中是不常见的。对RAS信号通路中基因的突变分析不支持JMML的诊断。非血液学特征，如湿疹(n = 7)和血便(n = 6)最终导致AS的中位年龄为4个月(范围3~8个月)，通过流式细胞仪检测淋巴细胞WASP6缺失或降低(n = 1)和aWASP基因突变证实了这一点。有趣的是，5名患者中有3名患者的平均血小板体积(MPV)正常，7名患者中有6名患者偶尔表现出巨大的血小板，这与WAS不相容。结论这些数据表明，如果没有检测到JMML的分子标记，应该考虑对具有JMML样特征的男性婴儿进行WAS。儿科血癌2013；60：836-841。©2012 Wiley期刊，Inc.
BackgroundWiskott–Aldrich syndrome (WAS) is a rare X‐linked immunodeficiency caused by defects of the WAS protein (WASP) gene. Patients with WAS typically demonstrate micro‐thrombocytopenia.ProceduresThe report describes seven male infants with WAS that initially presented with leukocytosis, monocytosis, and myeloid and erythroid precursors in the peripheral blood (PB) and dysplasia in the bone marrow (BM), which was initially indistinguishable from juvenile myelomonocytic leukaemia (JMML).ResultsThe median age of affected patients was 1 month (range, 1–4 months). Splenomegaly was absent in four of these patients, which was unusual for JMML. A mutation analysis of genes in the RAS‐signalling pathway did not support a diagnosis of JMML. Non‐haematological features, such as eczema (n = 7) and bloody stools (n = 6), ultimately led to the diagnosis of WAS at a median age of 4 months (range, 3–8 months), which was confirmed by absent (n = 6) or reduced (n = 1) WASP expression in lymphocytes by flow cytometry (FCM) and aWASPgene mutation. Interestingly, mean platelet volume (MPV) was normal in three of five patients and six of seven patients demonstrated occasional giant platelets, which was not compatible with WAS.ConclusionsThese data suggest that WAS should be considered in male infants presenting with JMML‐like features if no molecular markers of JMML can be detected. Pediatr Blood Cancer 2013; 60: 836–841. © 2012 Wiley Periodicals, Inc.