New insights into central nervous system involvement in FOP

Case report and review of the literature

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 languageEnglish
Pages (from-to)2817-2821
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
Publication statusPublished - Nov 1 2015

Fingerprint

Central Nervous System
Mutation
Activin Receptors
Heterotopic Ossification
Incidental Findings
Hydrocephalus
Glioma
Brain Stem
Autopsy
Biopsy
Brain
Neoplasms

Keywords

  • ACVR1
  • Brain MRI
  • Diffuse intrinsic pontine glioma
  • Fibrodysplasia ossificans progressive

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "New insights into central nervous system involvement in FOP: Case report and review of the literature",
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.",
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author = "Marta Bertamino and Mariasavina Severino and Schiaffino, {Maria Cristina} and Garr{\`e}, {Maria Luisa} and Renata Bocciardi and Roberto Ravazzolo and Andrea Rossi and {Di Rocco}, Maja",
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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

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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.

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