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.
Bone. 2018 Apr;109:56-60. doi: 10.1016/j.bone.2018.01.006. Epub 2018 Jan 7.
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.
肠系膜异位骨化（MHO）非常罕见，发生于中晚期成年期，通常与先前的腹部手术有关。MHO 的发病机制尚不清楚。在此，我们描述了一例 MHO 患者。标准组织学染色显示 MHO 是通过软骨内骨化过程发生的。与成骨不全症（FOP）和进行性骨异质增生症（POH）等已知的 HO 遗传疾病中的已知突变相比，DNA 测序分析显示 FOP（ACVR1/ALK2）致病基因存在常见的杂合同义多态性（c.690G>A; E230E）。然而，在 ACVR1 或 POH（GNAS）的致病基因中均未发现移码、错义或无义突变。尽管遗传易感性可能在 MHO 中起作用，但我们的数据表明，发生在已知遗传性 HO 疾病中的突变并非主要原因。
