TY - JOUR
T1 - New insights into central nervous system involvement in FOP
T2 - Case report and review of the literature
AU - Bertamino, Marta
AU - Severino, Mariasavina
AU - Schiaffino, Maria Cristina
AU - Garrè, Maria Luisa
AU - Bocciardi, Renata
AU - Ravazzolo, Roberto
AU - Rossi, Andrea
AU - Di Rocco, Maja
PY - 2015/11/1
Y1 - 2015/11/1
N2 - 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.
AB - 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.
KW - ACVR1
KW - Brain MRI
KW - Diffuse intrinsic pontine glioma
KW - Fibrodysplasia ossificans progressive
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U2 - 10.1002/ajmg.a.37271
DO - 10.1002/ajmg.a.37271
M3 - Article
C2 - 26239063
AN - SCOPUS:84947039108
VL - 167
SP - 2817
EP - 2821
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 11
ER -