Pier Danielle B, Nunes Fabio P, Plotkin Scott R, Stemmer-Rachamimov Anat O, Kim James C, Shih Helen A, Brastianos Priscilla, Lin Angela E
Medical Genetics Unit, MassGeneral Hospital for Children, Boston, MA, USA.
Stephen E. & Catherine Pappas Center for Neuro-Oncology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Eur J Med Genet. 2014 May-Jun;57(6):269-74. doi: 10.1016/j.ejmg.2014.03.005. Epub 2014 Mar 25.
Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed.
肿瘤形成在特纳综合征中并不常见，尽管有一些证据表明，特纳综合征患者患脑肿瘤的几率高于普通人群。我们描述了一名患有特纳综合征（45,X）且患有脑膜瘤的女性，该患者在未接受放射治疗的情况下，五年后又患上了第二种肿瘤，即头皮和鼻部的基底细胞癌。我们结合英国一项基于人群的调查中7例患有脑膜瘤的特纳综合征病例，以及文献中另外3例孤立病例，对这一小部分患者进行了回顾，以寻找与特纳综合征相关的危险因素证据，如相关结构异常或既往治疗情况。我们对脑膜瘤进行了组织学检查和22q（NF2基因座）的荧光原位杂交（FISH）分析，以寻找可能的分子决定因素。我们无法证明这两种情况之间存在因果关系，但提示肿瘤形成可能是特纳综合征中一种罕见的相关医学问题。还需要更多的病例报告以及基于人群研究的扩展。
