Radiological evaluation of enchondromas: A retrospective study of 112 cases

Authors

Abstract

Aim This study aims to investigate the clinical and demographic characteristics of enchondromas in 112 patients and provide insights into their diagnosis and management.
Materials and Methods This retrospective descriptive study analyzed the data of 112 patients diagnosed with enchondromas based on MRI findings between 2018 and 2024. Demographic details, clinical findings, and tumor characteristics, including location and size, were evaluated. Tumors were localized in the hand, foot, long bones, and other bones. The size of tumors was measured radiologically, and their clinical implications were assessed.
Results The patients ranged in age from 5 to 84 years, with a mean age of 45.35 years. Females constituted 59% of the cohort. Tumors were most commonly located in the hand bones (35%), followed by long bones (30%), foot bones (20%), and other bones (15%). The average tumor size was 2.5 cm, typically smaller than 3 cm. While most enchondromas were asymptomatic, larger tumors were associated with symptoms such as pain and swelling.
Discussion Enchondromas are predominantly benign, asymptomatic cartilage tumors with a higher prevalence in females and hand bones. Their clinical management depends on tumor size and symptomatology. Further research with larger cohorts is needed to deepen the understanding of enchondroma pathogenesis and clinical behavior.

Keywords

Introduction

Enchondromas are a rare but important type of benign cartilage tumour of the bones. These tumours develop in the bone marrow cavity and are mostly located in the medullary cavity of long bones. Hand, foot, arm, and leg bones are the most common sites of enchondromas [1, 2]. Since enchondromas are usually asymptomatic, many cases are detected incidentally during radiological imaging studies performed for other reasons [3]. However, as the tumour grows or carries the risk of malignant transformation (chondrosarcoma), symptoms such as pain, swelling, deformity, and rarely pathological fractures may occur [2, 3].
Although the etiology of enchondromas is not known exactly, genetic factors are thought to play a role in the development of these tumours. In particular, it has been reported that mutations in the IDH1 and IDH2 genes are frequently observed, and these mutations may play an important role in the pathogenesis of enchondromas [4]. However, the clinical behaviour of enchondromas is highly variable. While tumours remain silent for a lifetime in some patients, they may show aggressive growth and cause symptoms in others [5, 6]. This situation creates difficulties for physicians in monitoring and treating enchondromas.
Enchondromas are mostly managed with follow-up, while symptomatic ones or those with suspected malignant transformation are surgically removed [7]. Many factors, including the size and location of the tumour, age, and general health status of the patient, should be taken into consideration when deciding on treatment. There are many studies in the literature on the clinical features and management of enchondromas, but studies with large patient series are limited because the incidence of these tumours is rare [8].
The aim of this study was to analyse the clinical and demographic characteristics of enchondromas found in 112 patients. The gender, age, localisation, size, and symptoms of the tumours were evaluated. In addition, these findings were compared with other studies in the literature, and recommendations were made for the clinical management of enchondromas.

Materials and Methods

In this retrospective descriptive study, 112 patients who were diagnosed with enchondroma with magnetic resonance imaging (MRI) features in the radiology unit of a hospital between 2018 and 2024, and whose follow-up images were obtained, were analysed. Demographic information, clinical findings, and radiological imaging results of the patients were evaluated retrospectively.
The locations of the tumours were determined according to radiological imaging results. These results included localisations in the bones of the hand, bones of the foot, long bones (femur, tibia, humerus, etc.), and other bones. Tumour sizes were measured and recorded on radiological images (Figure 1).
Ethical Approval
This study was approved by the Ethics Committee of Harran University (Date: 2024-11- 18, No: Hrü/24.18.19).

Results

In our study, 112 patients were retrospectively reviewed, and the data obtained were analysed. The age range of the patients was between 5 and 84 years, and the mean age was 45.35 years. When the gender distribution was analysed, 59% (n=66) of the female patients and 41% (n=46) of the male patients were found. This distribution supports the higher incidence of enchondromas in females, which is frequently observed in other studies in the literature.
When the location of the enchondromas was analysed according to radiological imaging results, the most common location was the bones of the hand (35%, n=40). Hand bones were followed by long bones (30%, n=34), foot bones (20%, n=23), and other bones (15%, n=16) (Table 1).
The sizes of the tumours were measured radiologically, and the mean tumour size was 2.5 sd cm. The size range was between 1 cm and 5 cm (Table 1).

Discussion

Enchondromas are benign cartilage tumours that are usually asymptomatic. Most cases are detected incidentally during radiological imaging performed for other reasons [9]. However, in some cases, symptoms may develop as the tumour grows or depending on its localisation [10]. The findings obtained in this study are largely compatible with other studies reported in the literature, but some differences are also noteworthy.
In the literature, the most common locations of enchondromas have been reported to be the bones of the hand and foot. These findings were confirmed in our study, and the most common localisation site was found to be the bones of the hand [10, 11]. This finding may be explained by the tendency of uncontrolled proliferation of cartilage cells in these regions due to the small and narrow structure of the bones of the hands and feet [8]. The incidence of enchondromas in long bones ranks second in the literature [3, 9].
When the gender distribution was analysed, it was reported in the literature that enchondromas were observed more frequently in females [12]. In our study, the rate of female patients was found to be higher than that of male patients. This may be related with the hormonal structure or genetic predisposition of women, but more research is needed on this subject [4].
In terms of tumour size, it has been reported in the literature that enchondromas are generally smaller than 3 cm, and large- sized enchondromas are rare [1, 2]. In our study, these findings were confirmed, and most of the tumours were found to be smaller than 3 cm. However, it has been observed that large- sized enchondromas are more symptomatic and require more clinical intervention [7].

Limitations

Our study has limitations such as its retrospective nature and limited number of patients. Future prospective studies with large patient groups will contribute to a better understanding of the pathogenesis, clinical course, and treatment modalities of enchondromas.

Conclusion

We believe that this study provides valuable data to guide the diagnosis and treatment of enchondromas in clinical practice. Compared to other studies in the literature, the findings of our study provide important clues in the clinical management and treatment strategies of enchondromas.

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