Insights into the molecular regulatory network of pathomechanisms in osteochondroma

Yang, Congyi; Zhang, Ruiqian; Lin, Hui; Wang, Hongmei

doi:10.1002/jcb.29155

Cited by 14 publications

(10 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…With respect to the origin of multiple hereditary osteochondromatosis, previous studies suggested that a mutation in the tumor suppressing genes exostosin glycosyltransferase 1 and exostosin glycosyltransferase 2 could be the cause of this pathology. These genes are responsible for the synthesis of heparan sulfate proteoglycans (HSPGs), thus any mutation would lead to a reduction in HSPGs synthesis, facilitating therefore the occurrence of multiple hereditary osteochondromatosis (16,17).…”

Section: Discussionmentioning

confidence: 99%

Diagnosis and evolution of the benign tumor osteochondroma

et al. 2021

View full text Add to dashboard Cite

Osteochondroma represents a bone outgrowth covered by cartilaginous tissue and localized on the external surface of the bone. The incidence of osteochondroma is 20-35% of all pediatric benign tumors. Osteochondromas can be present in solitary or multiple forms and usually occur in the metaphysis of long bones in immature skeletons. The present study aimed to retrospectively determine the association between imaging diagnostic accuracy and histopathological examinations, which are the main methods of diagnosis for this type of tumor. A total of 66 patients presenting with radiological aspects of osteochondroma were initially selected; however, only the 56 patients who had a positive histopathological diagnosis of osteochondroma were eventually included in this study. Patient characteristics were taken into consideration and included age, sex, lesion localization, lesion imaging semiotics and histopathological aspects. Osteochondromas are generally asymptomatic lesions that are often incidentally diagnosed after trauma, which makes it difficult to determine the exact incidence of this pathology.

show abstract

Section: Discussionmentioning

confidence: 99%

Diagnosis and evolution of the benign tumor osteochondroma

et al. 2021

View full text Add to dashboard Cite

show abstract

“…The fibroblast growth factor pathway is one of the pathways felt to be involved in the regulation of osteochondromas, but the exact mechanism is still being elucidated. HME has been associated with EXT‐1 and 2 mutations (Nielsen & Rosenberg, ), and a new article by Yang, Zhang, Lin, and Wang () describes how mice with EXT‐1 mutations have both impaired cartilage development and increased areas of differentiation. Histologically, DEH lesions are similar to osteochondromas seen in HME.…”

Section: Discussionmentioning

confidence: 99%

Trevor's disease of the distal radioulnar joint in two children with achondroplasia

Kopriva

Miller

Legare³

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia.For management, we suggest shared surgical decision making based on symptoms.achondroplasia, distal radioulnar joint, dysplasia epiphysealis hemimelica, Trevor's disease

show abstract

“…4 Most patients with HMO have a positive family history, and 90% have mutations in either the EXT1 or EXT2 gene. 5 , 6 …”

Section: Introductionmentioning

confidence: 99%

Unusual location of osteochondroma in the temporal region in a patient with functional pituitary adenoma

et al. 2021

View full text Add to dashboard Cite

Osteochondromas are common in the long bones and relatively rare in the head and neck regions. We herein report a case of a solitary temporal bone osteochondroma associated with a functional pituitary adenoma hypersecreting prolactin. The patient was a 48-year-old man with progressive, painless temporal swelling associated with gradual visual loss, gynaecomastia, erectile dysfunction, and loss of libido. A brain computed tomography scan with bone windows showed right temporal sessile bony expansion and a pituitary tumour. A pituitary function test revealed hyperprolactinaemia. His symptoms resolved with medical management, and excisional biopsy of the temporal tumour confirmed an osteochondroma. To the best of our knowledge, this is the first reported case of a solitary temporal bone osteochondroma with a functional pituitary adenoma hypersecreting prolactin.

show abstract

Insights into the molecular regulatory network of pathomechanisms in osteochondroma

Cited by 14 publications

References 46 publications

Diagnosis and evolution of the benign tumor osteochondroma

Diagnosis and evolution of the benign tumor osteochondroma

Trevor's disease of the distal radioulnar joint in two children with achondroplasia

Unusual location of osteochondroma in the temporal region in a patient with functional pituitary adenoma

Contact Info

Product

Resources

About