The neoplastic pathogenesis of solitary and multiple osteochondromas

Porter, Daniel; Simpson, A. H. R. W.

doi:10.1002/(sici)1096-9896(199906)188:2<119::aid-path321>3.0.co;2-n

Cited by 127 publications

(70 citation statements)

References 53 publications

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“…In addition, in approximately 40% of PCS samples (4 out of 11) a second somatic mutational hit was detected, substantiating the observation that multiple genetic alterations of EXT genes accumulate during malignant transformation of hereditary osteochondromas (Porter and Simpson, 1999;Bove´e et al, 1999a, b).…”

Section: Discussionsupporting

confidence: 69%

“…Patients with MO show multiple benign osteochondromas that usually develop gradually until puberty and are characterized by the same anatomical and histological appearance of SO (Porter and Simpson, 1999). MO is a clinically heterogeneous disease with a great variability in size and number of osteochondromas; complications include different grade of pain, skeletal deformities, range of motion limitations, fractures and nerve compression (Hennekam, 1991).…”

Section: Introductionmentioning

confidence: 99%

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Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation

et al. 2010

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Osteochondroma, the most common benign bone tumor, may occur as a sporadic lesion or as multiple neoplasms in the context of multiple osteochondromas syndrome. The most severe complication is malignant transformation into peripheral secondary chondrosarcoma. Although both benign conditions have been linked to defects in EXT1 or EXT2 genes, contradictory reports are present in the literature regarding the requirement of their biallelic inactivation for osteochondroma development. A major limitation of these studies is represented by the small number of samples available for the screening. Taking advantage of a large series of tissues, our aim was to contribute to the definition of a genetic model for osteochondromas onset and transformation. EXT genes point mutations and big deletions were analyzed in 64 tissue samples. A double hit was found in 5 out of 35 hereditary cases, 6 out of 16 chondrosarcomas and 2 recurrences; none of the 11 sporadic osteochondromas showed two somatic mutations. Our results clearly indicate that, in most cases, biallelic inactivation of EXT genes does not account for osteochondromas formation; this mechanism should be regarded as a common feature for hereditary osteochondromas transformation and as an event that occurs later in tumor progression of solitary cases. These findings suggest that mechanisms alternative to EXT genetic alteration likely have a role in osteochondromas pathogenesis.

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Section: Discussionsupporting

confidence: 69%

Section: Introductionmentioning

confidence: 99%

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation

et al. 2010

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“…This feature is similar to those seen in epiphysal plates before closure, supporting the theory of pluripotential periosteal cells as precursors of this lesion (1,2,7,10,11). Porter and Simpson (12) suggested that a genetic component might also be involved in the neoplastic pathogenesis due to somatic mutations found in chromosomes 8 and 11. However, the cellular origin of this process is controversial.…”

Section: Osteochondroma Of the Temporomandibular Jointmentioning

confidence: 99%

Osteochondroma of the temporomandibular joint: a case report

et al. 2010

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Osteochondroma of the mandibular condyle has been found in the oral and maxillofacial region rarely. This paper describes a case of osteochondroma of the mandibular condyle in a 20-year-old woman, who was referred to our service with facial asymmetry, prognathic deviation of chin, cross-bite to the contralateral side, changes in condylar morphology, limited mouth opening, and malocclusion. Computed tomography (CT) was performed for better evaluation to the pathological conditions on the temporomandibular joint. Based on the clinical examination, patient history, and complementary exams, the hypothesis of osteochondroma was established. Condylectomy was performed using a preauricular approach with total removal of the lesion. After 3 years of postoperative follow up and orthodontic therapy, the patient is symptom-free, and has normal mouth opening with no deviation in the opening pattern.

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“…1 Mostly, they are asymptomatic, but because of the bony palpable mass, it can cause pain due to bursitis, compression on an overlying structure, or fracture through the stalk. The effects of solitary exostoses of the proximal femur have been described in cases involving sciatic nerve compression 2 and trochanteric bursitis, 3 leading to surgical excision or local treatment.…”

Section: Introductionmentioning

confidence: 99%

Pedunculated Osteochondroma arising from the Medial Aspect of Proximal Femur: A Rare Presentation

Hamid¹,

Somashekarappa²,

Jauhari³

et al. 2017

International Journal of Advanced and Integrated Medical Sciences

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Osteochondroma is a benign bony tumor arising as a bony outgrowth covered by a cartilage cap and occurs most commonly in the metaphysis of long bones (proximal tibia, distal femur, proximal humerus) and pelvis. Osteochondroma grows eccentrically instead of centrifugally. This article reports a case of a 24-yearold female, who presented with a painless bony hard irregular swelling over medial aspect of right groin. There was no distal neurovascular deficit. Site, nature, and extent of the lesion were assessed by radiographs and magnetic resonance imaging. Tumor was completely excised and on histopathology, osteochondroma confirmed. No weight bearing was allowed for 1 week. Patient returned to her normal routine activities in 1 month. On regular follow-up, no evidence of recurrence of the lesion was seen.

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The neoplastic pathogenesis of solitary and multiple osteochondromas

Cited by 127 publications

References 53 publications

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation

Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation

Osteochondroma of the temporomandibular joint: a case report

Pedunculated Osteochondroma arising from the Medial Aspect of Proximal Femur: A Rare Presentation

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