Search Results (7)

Background/Objectives: Atypical cartilaginous tumours (ACTs) are intermediate, locally aggressive chondroid tumours in the appendicular skeleton. Due to the potential for transformation into high-grade chondrosarcomas, management typically consists of regular MRI follow-up and, occasionally, surgery. We primarily aimed to examine the rate of malignant transformation in ACTs in our hospital; secondarily, we aimed to identify the factors influencing management choices and outcomes. Methods: All patients referred between 2013 and 2020 with a long-bone ACT were identified from the unit database. For this retrospective study, we analysed the imaging, management, and outcomes for the patients discussed at our musculoskeletal radiological conference. Results: A total of 59 patients were included; of these, 0 cases of malignant transformation were observed with a mean follow-up time of 8.4 years. Of the presenting cases, the musculoskeletal radiological conference advised that 6 should be biopsied, 40 should receive MRI follow-up, 7 should receive X-ray follow-up, and 6 should be re-examined in clinic. Subsequently, 12 patients underwent surgery due to continued pain, diagnostic uncertainty, and historical practices. Of these, seven experienced continued post-operative pain. Conclusions: None of the encountered ACTs underwent malignant transformation, supporting previous findings that this transformation is a rare phenomenon. Furthermore, of the small sample of patients undergoing surgery, less than half were left pain-free. These findings support a more conservative approach to ACT management, with the potential to discharge after an initial review. Full article

A subset of chondrocytes in various human cartilage tissues, including neoplastic, regenerative, and normal cartilage, expresses α-smooth muscle actin (α-SMA), a protein typically found in smooth muscle cells. These α-SMA-containing chondrocytes, termed myochondrocytes and myochondroblasts, may play important roles in cartilage physiology, regeneration, and structural integrity, particularly in auricular and articular cartilage. This review synthesizes current knowledge regarding the terminology, distribution, and biological significance of these cells across normal, osteoarthritic, transplanted, and neoplastic cartilage. We summarize key findings from immunohistochemical studies using markers such as S-100, α-SMA, and SOX9, along with ultrastructural confirmation of myofilament bundles via electron microscopy. Current evidence suggests that myochondrocytes exhibit enhanced regenerative potential and contribute to matrix remodeling. Furthermore, their presence reflects the inherent cellular heterogeneity of cartilage, potentially arising from transdifferentiation processes involving fibroblasts, mesenchymal stem cells, or chondroblasts. Finally, TGF-β1 and PDGF-BB are identified as a critical modulator of α-SMA expression and chondrocyte phenotype. A deeper understanding of nature and function of myochondrocytes and myochondroblasts may improve interpretations of cartilage pathology and inform strategies for tissue engineering and cartilage repair. This review highlights the need for further investigation into the molecular regulation and functional roles of these cells in both physiological and pathological contexts. Full article

Background: Heel pain in children is a common condition. The aetiology can be ascribed to fractures, osteochondrosis, tendinitis, calcaneal-navicular or talo-calcaneal coalition, osteomyelitis, rheumatic diseases, anatomic variants, malignant tumours (osteosarcoma, Ewing’s sarcoma), and benign lesions (bone cyst, aneurismal bone cyst, osteoid osteoma, or exostosis). In particular, this manuscript focuses on a case of calcaneal exostosis in the paediatric age, aiming to highlight its rarity. Osteochondromas are benign tumours of the surface of the bone and the overlying cartilage. They grow until skeletal maturity and can cause stiffness, pain, cosmetic alterations, tendinitis, and neuro-vascular compression. The calcaneus is an extremely rare site for these tumours. Only two case reports of paediatric exostosis of the calcaneus bone are available. Methods: We describe a case of a girl of 16 years of age, affected by multiple cartilaginous exostosis, who presented with a painful mass on the inferior margin of the foot in the calcaneal region, which was diagnosed as an exostosis. The neoformation was excised, and the girl underwent clinical follow-up. Results: The patient was promptly discharged in good condition, and on the 25th postoperative day, she was completely pain-free and allowed weight bearing. Conclusions: In the case of heel pain resistant to conservative treatment, the presence of an osteochondroma should be considered after excluding more common causes. If symptomatic, calcaneal osteochondromas could require surgical excision. Full article

Objective: The aim of this study is to determine MRI features that may be prognostic indicators of local recurrence (LR) in patients treated with curettage and cementation of atypical cartilaginous tumours (ACTs) in the appendicular skeleton. Materials and Methods: This study is a retrospective review of adult patients with histologically confirmed appendicular ACT. The data collected included age, sex, skeletal location and histology from curettage, the presence of LR and oncological outcomes. The pre-operative MRI characteristics of the ACT reviewed by a specialist MSK radiologist included lesion location, lesion length, degree of medullary filling, bone expansion, cortical status and the presence of soft tissue extension. Results: A total of 43 patients were included, including 9 males and 34 females with a mean age of 42.8 years (range: 25–76 years). Tumours were located in the femur (n = 19), humerus (n = 15), tibia (n = 5), fibula (n = 2) and radius and ulna (n = 1 each). A total of 19 lesions were located in the diaphysis, 12 in the metadiaphysis, 6 in the metaphysis and 6 in the epiphysis. The mean tumour length was 61.0 mm (range: 12–134 mm). The mean follow up was 97.7 months (range: 20–157 months), during which 10 (23.3%) patients developed LR, 7 (70%) of which were asymptomatic and 3 (30%) of which presented with pain. Four patients required repeat surgery with no associated death or evidence of metastatic disease. LR was significantly commoner with tumours arising in the epiphysis or metadiaphysis, but no MRI features were predictive of LR. Conclusions: No relationship was found between the apparent ‘aggressiveness’ of an ACT of the appendicular skeleton on MRI and the development of LR following treatment with curettage and cementation. Full article

Background: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. Methods: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of IDH1 and IDH2 genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an IDH1 mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient). Conclusions: IDH1 mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical IDH1 mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical IDH1 mutation with the corresponding cartilaginous tumour. We further provided evidence that IDH mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome. Full article

Periosteal chondrosarcoma is an extremely rare malignant cartilage-forming tumour that originates from the periosteum and occurs on the surface of bone. Often, it is difficult to distinguish periosteal chondrosarcoma from other tumours, and reports in the literature are scarce. This study aims to investigate the characteristics of periosteal chondrosarcoma, focusing particularly on medullary invasion. Among 33 periosteal cartilaginous tumours, seven patients with pathologically proven periosteal chondrosarcoma were identified retrospectively. The average tumour size was 5.4 cm in the long axis; two tumours were smaller than 3.0 cm. Six tumours were resected with a wide margin, and the remaining tumour had a marginal margin. Histology revealed that six tumours (85.7%) had invaded the medullary cavity; three of these did not show invasion into the medullary cavity on MRI evaluation. Neither local recurrence nor metastasis was observed among these patients. The frequency of invasion of the medullary cavity was higher than that reported previously. The recommended treatment for periosteal chondrosarcoma is resection with an adequate margin. Therefore, surgeons should consider the possibility of medullary invasion when attempting to achieve a histologically negative margin, even if the tumour does not show invasion into the medullary cavity on MRI. Full article

The intervertebral disc (IVD) relies mainly on diffusion through the cartilaginous endplates (CEP) to regulate the nutrient and metabolites exchange, thus creating a challenging microenvironment. Degeneration of the IVD is associated with intradiscal acidification and elevated levels of pro-inflammatory cytokines. However, the synergistic impact of these microenvironmental factors for cell-based therapies remains to be elucidated. The aim of this study was to investigate the effects of low pH and physiological levels of interleukin-1ß (IL-1β) and tumour necrosis factor-α (TNF-α) on nasal chondrocytes (NCs) and subsequently compare their matrix forming capacity to nucleus pulposus (NP) cells in acidic and inflamed culture conditions. NCs and NP cells were cultured in low glucose and low oxygen at different pH conditions (pH 7.1, 6.8 and 6.5) and supplemented with physiological levels of IL-1β and TNF-α. Results showed that acidosis played a pivotal role in influencing cell viability and matrix accumulation, while inflammatory cytokine supplementation had a minor impact. This study demonstrates that intradiscal pH is a dominant factor in determining cell viability and subsequent cell function when compared to physiologically relevant inflammatory conditions. Moreover, we found that NCs allowed for improved cell viability and more effective NP-like matrix synthesis compared to NP cells, and therefore may represent an alternative and appropriate cell choice for disc regeneration. Full article