TL;DR: Somatic heterozygous mutations in IDH1 or IDH2 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes and suggested intraneoplastic and somatic mosaicism.
Abstract: Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.
TL;DR: Criteria allow distinction of appendicular enchondroma and chondrosarcoma in at least 90% of cases.
Abstract: Distinction of enchondroma versus intramedullary chondrosarcoma affecting the appendicular skeleton (proximal to the metacarpals and metatarsals) is a frequent diagnostic dilemma. The authors studied a large series of patients with these lesions (92 with enchondromas, 95 with chondrosarcomas) using statistical assessment of both clinical parameters and numerous radiologic manifestations on images from multiple modalities to identify differentiating features. Multiple clinical and imaging parameters demonstrated statistically significant differences between enchondroma and chondrosarcoma, particularly pain related to the lesion, deep endosteal scalloping (greater than two-thirds of cortical thickness), cortical destruction and soft-tissue mass (at computed tomography or magnetic resonance imaging), periosteal reaction (at radiography), and marked uptake of radionuclide (greater than the anterior iliac crest) at bone scintigraphy. All of these features strongly suggested the diagnosis of chondrosarcoma. These criteria allow distinction of appendicular enchondroma and chondrosarcoma in at least 90% of cases.
TL;DR: By emphasizing pathogenesis in conjunction with radiographic and histologic findings, pitfalls in diagnosis and subsequent treatment can be avoided in cases of juxtacortical cartilaginous tumors.
Abstract: We reviewed 845 cases of benign and 356 cases of malignant cartilaginous tumors from a total of 3067 primary bone tumors in our database. Benign cartilaginous lesions are unique because the epiphyseal plate has been implicated in the etiology of osteochondroma, enchondroma (single or multiple), periosteal chondromas and chondroblastoma. In the first part of this paper, we will review important clinical, radiologic and histologic features of intramedullary cartilaginous lesions in an attempt to support theories related to anatomic considerations and pathogenesis.
TL;DR: Preliminary results show that in the adult population fast contrast-enhanced MR imaging may assist in differentiation between benign and malignant cartilaginous tumors.
Abstract: PURPOSE: To differentiate between benign and malignant cartilaginous tumors with fast contrast material–enhanced magnetic resonance (MR) imaging. MATERIALS AND METHODS: In 37 patients, fast contrast-enhanced MR images were obtained in eight enchondromas, 11 osteochondromas, and 18 chondrosarcomas. Start of enhancement—early, within 10 seconds after arterial enhancement; delayed, between 10 seconds and 2 minutes; late, after 5 minutes on spin-echo images—and progression of enhancement were represented with three types of time–signal intensity curves. Findings were correlated with the surgical specimen in 27 cases, curettage material in three cases, and biopsy combined with long-term follow-up findings in seven cases. RESULTS: Start of enhancement and the combination of start and progression of enhancement correlated significantly (P < .001) with benign and malignant tumors. Early enhancement was seen in chondrosarcoma, not seen in enchondroma, and seen in osteochondroma only when growth plates were unfused...
TL;DR: Benign tumours of the bone most commonly arise in people less than 30 years old, often triggered by the hormones that stimulate normal growth, and the most common type is osteochondroma.
Abstract: Benign tumours of the bone are not cancerous and would not metastasise to other regions of the body. However, they can occur in any part of the skeleton, and can still be dangerous as they may grow and compress healthy bone tissue. There are several types of benign tumours that can be classified by the type of matrix that the tumour cells produce; such as bone, cartilage, fibrous tissue, fat or blood vessel. Overall, 8 different types can be distinguished: osteochondroma, osteoma, osteoid osteoma, osteoblastoma, giant cell tumour, aneurysmal bone cyst, fibrous dysplasia and enchondroma.
The incidence of benign bone tumours varies depending on the type. However, they most commonly arise in people less than 30 years old, often triggered by the hormones that stimulate normal growth. The most common type is osteochondroma.
This review discusses the different types of common benign tumours of the bone based on information accumulated from published literature.