Dahl Nathan A, Luebbert Timothy, Loi Michele, Neuberger Ilana, Handler Michael H, Kleinschmidt-DeMasters Bette Kay, Mulcahy Levy Jean M
From the Department of Pediatrics, University of Colorado Denver, Aurora, Colorado (NAD, TL, ML, JMM-L); Morgan Adams Foundation Pediatric Brain Tumor Research Program, Children's Hospital Colorado, Aurora, Colorado (NAD, JMM-L); Department of Neurology (TL, BKK-D); Department of Radiology (IN); Department of Neurosurgery (MHH, BKK-D); and Department of Pathology, University of Colorado Denver, Aurora, Colorado (BKK-D).
J Neuropathol Exp Neurol. 2017 Jun 1;76(6):418-423. doi: 10.1093/jnen/nlx032.
Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex. We review the limited literature on this topic.
脊索瘤是一种罕见的骨肿瘤,通常与家族性肿瘤易感性综合征无关。这种中线轴性骨骼肿瘤的发病高峰在成年期,但当非常年幼的儿童受到影响时,应考虑结节性硬化症(TS)相关情况,尤其是在3个月以下的新生儿中出现时。为引起对这种关联的关注,我们报告了一例发生在一名2个月大男婴颅底的brachyury免疫阳性脊索瘤,该患儿后来被发现有皮下组织和肺部转移,以及心脏横纹肌瘤和肾囊肿/血管平滑肌脂肪瘤,即TS相关的特征性表现。我们回顾了关于这一主题的有限文献。