Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 2817-2821 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 167 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 1 2015 |
Fingerprint
Keywords
- ACVR1
- Brain MRI
- Diffuse intrinsic pontine glioma
- Fibrodysplasia ossificans progressive
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
New insights into central nervous system involvement in FOP : Case report and review of the literature. / Bertamino, Marta; Severino, Mariasavina; Schiaffino, Maria Cristina; Garrè, Maria Luisa; Bocciardi, Renata; Ravazzolo, Roberto; Rossi, Andrea; Di Rocco, Maja.
In: American Journal of Medical Genetics, Part A, Vol. 167, No. 11, 01.11.2015, p. 2817-2821.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=84947039108&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84947039108&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37271
DO - 10.1002/ajmg.a.37271
M3 - Article
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 -