Department of Medicine and Surgery, University of Genoa, Genoa, Italy.
Giannina Gaslini Institute, Unit of Neuroradiology, Genoa, Italy.
Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4.
Fibrodyspasia ossificans progressiva is an autosomal dominant disease due to activating mutations in activin receptor type IA and characterized by progressive heterotopic ossification. Recently, the same non-synonymous heterozygous somatic mutations of ACVR1 have been identified in brain biopsies or autopsy of 24-27% of patients with a rare cerebral tumor, the diffuse intrinsic pontine glioma. We report the first case of a patient with FOP with incidental findings of an abnormal soft tissue mass surrounding the brainstem and causing obstructive hydrocephalus, associated with bilateral dentate lesions. Clinico-radiological course during 10 years of follow-up was consistent with a benign lesion, excluding an oncogenic role of ACVR1 mutations.
进行性骨化性纤维发育不良是一种常染色体显性疾病，由激活素受体 IA 的激活突变引起，其特征是进行性异位骨化。最近，在罕见的脑肿瘤弥漫性内在脑桥胶质瘤患者的脑活检或尸检中，也发现了同样的非 synonymous 杂合体细胞 ACVR1 突变。我们报告了首例 FOP 患者的病例，该患者偶然发现脑干周围有异常软组织肿块，导致阻塞性脑积水，并伴有双侧齿状核病变。10 年的随访中，临床 - 影像学过程符合良性病变，排除了 ACVR1 突变的致癌作用。
