Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA.
Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18.
Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.
报告了 4 名无关联的患者，他们具有不典型的临床表现，包括多发性周围神经鞘瘤。其临床表现不符合任何已知的家族性肿瘤综合征。患者有多发性疼痛性神经纤维瘤，包括双侧眼眶丛状神经纤维瘤以及脊髓和黏膜神经纤维瘤。此外，他们还表现出马凡样体型、相似的面部特征、扩大的角膜神经和神经元迁移缺陷。对 NF1、NF2 和 SMARCB1 的全面突变分析显示，在血液淋巴细胞和丛状神经纤维瘤培养的施万细胞中均未发现突变。此外，在血液白细胞中也未发现 RET、PRKAR1A、PTEN 和其他 RAS 通路基因的突变。综上所述，这 4 例患者的临床和病理表现不符合任何已知的综合征，可能代表一种新的疾病。
