TY - JOUR
T1 - A case report of mesenteric heterotopic ossification
T2 - 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.
N1 - Funding Information:
This work was supported by the Ian Cali Distinguished Clinician-Scientist award, the Robert and Arlene Kogod Professorship in Geriatric Medicine at the Mayo Clinic, and the Radiant Hope Foundation (to RJP); the Center for Research in FOP and Related Disorders at the University of Pennsylvania Perelman School of Medicine; the Ian Cali Endowment for FOP Research; the Whitney Weldon Endowment for FOP Research, the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine (to FSK), and the Cali-Weldon Professorship of FOP Research (to EMS). This work was also supported by the Penn Center for Musculoskeletal Disorders (NIH P30-AR050950 ), and the National Institutes of Health (NIH R01-AR041916 and R01-AR046831 ).
PY - 2018/4
Y1 - 2018/4
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.
AB - 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.
KW - Fibrodysplasia ossificans progressiva (FOP)
KW - Heterotopic ossification
KW - Polymorphism
KW - Progressive osseous heteroplasia (POH)
UR - http://www.scopus.com/inward/record.url?scp=85040240225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85040240225&partnerID=8YFLogxK
U2 - 10.1016/j.bone.2018.01.006
DO - 10.1016/j.bone.2018.01.006
M3 - Article
C2 - 29320714
AN - SCOPUS:85040240225
VL - 109
SP - 56
EP - 60
JO - Bone
JF - Bone
SN - 8756-3282
ER -