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A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings.
Bone. 2018 04; 109:56-60.BONE

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.

Authors+Show Affiliations

Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Pathology and Laboratory Medicine, Rutgers - Robert Wood Johnson Medical School, Department of Pathology and Laboratory Medicine, United States.Department of Pathology and Laboratory Medicine, Rutgers - Robert Wood Johnson Medical School, Department of Pathology and Laboratory Medicine, United States.Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, PA, United States; Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States.Department of Medicine, Mayo Clinic School of Medicine, Mayo Clinic, Rochester, MN, United States. Electronic address: pignolo.robert@mayo.edu.

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29320714

Citation

Amalfitano, Matthew, et al. "A Case Report of Mesenteric Heterotopic Ossification: Histopathologic and Genetic Findings." Bone, vol. 109, 2018, pp. 56-60.
Amalfitano M, Fyfe B, Thomas SV, et al. A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings. Bone. 2018;109:56-60.
Amalfitano, M., Fyfe, B., Thomas, S. V., Egan, K. P., Xu, M., Smith, A. G., Kaplan, F. S., Shore, E. M., & Pignolo, R. J. (2018). A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings. Bone, 109, 56-60. https://doi.org/10.1016/j.bone.2018.01.006
Amalfitano M, et al. A Case Report of Mesenteric Heterotopic Ossification: Histopathologic and Genetic Findings. Bone. 2018;109:56-60. PubMed PMID: 29320714.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings. AU - Amalfitano,Matthew, AU - Fyfe,Billie, AU - Thomas,Sumi V, AU - Egan,Kevin P, AU - Xu,Meiqi, AU - Smith,Andrew G, AU - Kaplan,Frederick S, AU - Shore,Eileen M, AU - Pignolo,Robert J, Y1 - 2018/01/07/ PY - 2017/12/14/received PY - 2018/01/06/accepted PY - 2018/1/11/pubmed PY - 2018/12/12/medline PY - 2018/1/11/entrez KW - Fibrodysplasia ossificans progressiva (FOP) KW - Heterotopic ossification KW - Polymorphism KW - Progressive osseous heteroplasia (POH) SP - 56 EP - 60 JF - Bone JO - Bone VL - 109 N2 - 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. SN - 1873-2763 UR - https://www.unboundmedicine.com/medline/citation/29320714/A_case_report_of_mesenteric_heterotopic_ossification:_Histopathologic_and_genetic_findings_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S8756-3282(18)30006-1 DB - PRIME DP - Unbound Medicine ER -