A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings

Matthew Amalfitano, Billie Fyfe, Sumi V. Thomas, Kevin P. Egan, Meiqi Xu, Andrew G. Smith, Frederick S. Kaplan, Eileen M. Shore, Robert J. Pignolo

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Mesenteric heterotopic ossification (MHO) is very rare and occurs in mid- to late-adulthood, usually in the context of prior abdominal surgery. The mechanisms of MHO are unknown. Here we describe the case of a 72-year-old man with MHO. Standard histological staining revealed that MHO occurred through an endochondral process. By comparison to known mutations in genetic conditions of HO such as fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), DNA sequencing analysis demonstrated the presence of a commonly occurring heterozygous synonymous polymorphism (c.690G>A; E230E) in the causative gene for FOP (ACVR1/ALK2). However, no frameshift, missense, or nonsense mutations in ACVR1, or in the causative gene for POH (GNAS), were found. Although genetic predisposition may play a role in MHO, our data suggest that mutations which occur in known hereditary conditions of HO are not the primary cause.

Original languageEnglish (US)
Pages (from-to)56-60
Number of pages5
JournalBone
Volume109
DOIs
StatePublished - Apr 2018

Keywords

  • Fibrodysplasia ossificans progressiva (FOP)
  • Heterotopic ossification
  • Polymorphism
  • Progressive osseous heteroplasia (POH)

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Histology

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