High incidence of malformation syndromes in a series of 1,073 children with cancer
High incidence of malformation syndromes in a series of 1,073 children with cancer
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DOI：
10.1002/ajmg.a.30603
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发表时间：
2005-04-15
影响因子：
2
通讯作者：
Hennekam, RCM
中科院分区：
文献类型：
--
作者：
Merks, JHM;Caron, HN;Hennekam, RCM
众所周知，构成分子缺陷在肿瘤发生中起到了作用，贝克韦德曼综合征(BWS)儿童胚胎癌症或唐氏综合征儿童白血病的发病率增加就表明了这一点。为了确定与儿童癌症相关的畸形综合征的发生率和谱系，我们对1073名患有癌症的儿童进行了临床形态检查。我们诊断了42名患者(3.9%)，并怀疑另有35名患者(3.3%)存在综合症，总计7.2%。这种确诊或疑似综合征的患者的发病率很高，这表明可能存在关联。我们在几个实体中描述了新的综合征肿瘤关联：锁骨颅骨发育不良(Wilms瘤)，Bardet-Biedl综合征(BBS)(急性淋巴细胞白血病)，Kabuki综合征(神经母细胞瘤)，豹综合征(神经母细胞瘤)，波兰畸形(骨肉瘤；霍奇金病)，以及眼唇裂内翻综合征(Burkitt淋巴瘤)。在这项研究之前，42个证候诊断中有20个在患者中没有被识别，这表明这些诊断通常被遗漏。我们建议，所有患有恶性肿瘤的儿童都应该由临床遗传学家或精通临床形态的儿科医生进行检查，以确定患者是否有畸形综合征。(C)2005年Wiley-Liss，Inc.
Constitutional molecular defects are known to play a role in oncogenesis, as shown by the increased incidence of embryonic cancers in children with Beckwith-Wiedemann syndrome (BWS) or of leukemia in children with Down syndrome. To establish the incidence and spectrum of malformation syndromes associated with childhood cancer we performed a clinical morphological examination on a series of 1,073 children with cancer. We diagnosed a syndrome in 42 patients (3.9%) and suspected the presence of a syndrome in another 35 patients (3.3%), for a total of 7.2%. This incidence of patients with a proven or suspected syndrome is high, and points to a possible association. We describe new syndrome tumor associations in several entities: cleidocranial dysostosis (Wilms tumor), Bardet-Biedl syndrome (BBS) (acute lymphoblastic leukemia), Kabuki syndrome (neuroblastoma), LEOPARD syndrome (neuroblastoma), Poland anomaly (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma). Twenty of the 42 syndrome diagnoses were not recognized in the patients prior to this study, indicating that these diagnoses are commonly missed. We propose that all children with a malignancy should be examined by a clinical geneticist or a pediatrician skilled in clinical morphology to determine if the patients have a malformation syndrome. (c) 2005 Wiley-Liss, Inc.