Unveiling Enigma: Navigating the Diagnostic Labyrinth of an Atypical Medial Clavicular Enchondroma.

Benign cartilaginous lesions called enchondromas usually appear in the long bones of the limbs. This case report, however, draws attention to an uncommon and unusual appearance of enchondroma near the medial end of clavicle. Because of the unusual location, the diagnostic process was very complex, which presented a challengefor the physicians. We provide the clinical, radiological and histological results that finally allowed for an accurate diagnosis. This example highlights the need of taking into account atypical location for benign lesions and highlights the necessity of a thorough diagnostic approach in unexpected clinical settings. Since the occurrence of clavicular enchondromas is a rare entity and can at times mislead the clinician, healthcare providers must be vigilant enough to guarantee a prompt and accurate diagnosis for timely intervention.

Costal Chondroid Tumors Mimicking Intraabdominal Masses: The Pivotal Role of Computed Tomography in Diagnosis.

Teaching Point: Costal chondroid tumors can mimic abdominal masses and, when located in the right hypochondrium, may suggest hepatic origin. Computed tomography is essential to determine their origin and nature and to guide appropriate treatment.

Update of cartilaginous tumours according to the WHO classification 2020.

Cartilaginous tumours are a large and heterogeneous group of neoplasms characterised by the presence of a chondroid matrix, with lobular growth and arcuate, ring-like or popcorn-like calcification patterns. MRI shows hyperintensity in T2-weighted sequences and a lobulated or septal relief in postcontrast images. In the WHO 2020 classification, chondral tumours are classified as benign, intermediate or malignant. Despite technological advances, they continue to pose a challenge for both the radiologist and the pathologist, being the main difficulty the differentiation between benign and malignant tumours, which is why they require a multidisciplinary approach. This paper describes the main changes introduced in the 2020 update, describes the imaging characteristics of the main cartilaginous tumours and provides the radiological keys to differentiate between benign and malignant tumours.

Actualización de los tumores cartilaginosos según la clasificación de la OMS de 2020 / Update of cartilaginous tumours according to the WHO classification 2020

Los tumores cartilaginosos son un grupo amplio y heterogéneo de neoplasias caracterizadas por la presencia de una matriz condroide que presenta crecimiento lobular y patrones de calcificación en arcos y anillos o en palomitas de maíz. En RM destaca su hiperintensidad en las secuencias potenciadas en T2, y en las imágenes poscontraste, un relace lobulado o septal. En la clasificación de 2020 de la OMS, los tumores de estirpe condral se clasifican en benignos, intermedios o malignos. A pesar de los avances tecnológicos, siguen suponiendo un reto tanto para el radiólogo como para el patólogo, siendo la principal dificultad la diferenciación entre los tumores benignos y malignos, razón por la que requieren un abordaje multidisciplinar. Este trabajo recoge los principales cambios introducidos en la actualización de 2020, describe las características de imagen de los principales tumores cartilaginosos y proporciona las claves radiológicas para diferenciar entre tumores benignos y malignos.(AU)

Cartilaginous tumours are a large and heterogeneous group of neoplasms characterised by the presence of a chondroid matrix, with lobular growth and arcuate, ring-like or popcorn-like calcification patterns. MRI shows hyperintensity in T2-weighted sequences and a lobulated or septal relief in postcontrast images. In the WHO 2020 classification, chondral tumours are classified as benign, intermediate or malignant. Despite technological advances, they continue to pose a challenge for both the radiologist and the pathologist, being the main difficulty the differentiation between benign and malignant tumours, which is why they require a multidisciplinary approach. This paper describes the main changes introduced in the 2020 update, describes the imaging characteristics of the main cartilaginous tumours and provides the radiological keys to differentiate between benign and malignant tumours.(AU)

Kirschner Wires and Bone Allograft Salvage Finger Motion in Pathologic Fracture of Middle Phalanx Enchondroma: A Case Report.

Introduction: Pathologic phalangeal fracture is a common initial presentation of solitary enchondroma of the finger. Enchondromas of the middle phalanx are most frequently associated with post-operative range of motion deficits. This report describes a case in which the use of Kirschner wires (K-wires) and allograft bone were used to salvage finger motion following surgical fixation of pathologic fracture of a middle phalanx enchondroma with extensor tendon injury. Case Report: A 37-year-old right hand dominant woman presents with pathologic fracture of the left index finger middle phalanx. The patient elected for surgical intervention to stabilize fracture and enable early motion at the proximal interphalangeal joint (PIP). Surgical fixation involved tumor curettage, fracture stabilization and length preservation with longitudinal K-wires, allograft bone with hardening properties to fill the bony defect, and dorsal K-wires for securing the extensor tendon. At follow-up 11 months postoperatively, the allograft had almost completely resolved, and the patient had regained PIP flexion of 90° and full extension. Conclusion: Pathologic fracture of middle phalanx enchondroma is prone to complication by extensor tendon injury and associated post-operative loss of motion. Bone grafting and Kirschner wire fixation allowed for early mobilization of finger motion and thus may be a useful technique for use in treatment of other pathologic fractures.

Enchondroma Detection from Hand Radiographs with an Interactive Deep Learning Segmentation Tool-A Feasibility Study.

Enchondromas are common benign bone tumors, usually presenting in the hand. They can cause symptoms such as swelling and pain but often go un-noticed. If the tumor expands, it can diminish the bone cortices and predispose the bone to fracture. Diagnosis is based on clinical investigation and radiographic imaging. Despite their typical appearance on radiographs, they can primarily be misdiagnosed or go totally unrecognized in the acute trauma setting. Earlier applications of deep learning models to image classification and pattern recognition suggest that this technique may also be utilized in detecting enchondroma in hand radiographs. We trained a deep learning model with 414 enchondroma radiographs to detect enchondroma from hand radiographs. A separate test set of 131 radiographs (47% with an enchondroma) was used to assess the performance of the trained deep learning model. Enchondroma annotation by three clinical experts served as our ground truth in assessing the deep learning model's performance. Our deep learning model detected 56 enchondromas from the 62 enchondroma radiographs. The area under receiver operator curve was 0.95. The F1 score for area statistical overlapping was 69.5%. Our deep learning model may be a useful tool for radiograph screening and raising suspicion of enchondroma.

The Utility of PET/CT for the Diagnosis of Periosteal Chondrosarcoma in a Patient With Maffucci's Syndrome.

Maffucci's syndrome is a rare congenital nonhereditary syndrome with less than 300 cases having been reported in the United States. It is characterized by multiple enchondromas, hemangiomas, and rarely lymphangiomas. Enchondromas may undergo malignant transformation to chondrosarcomas. Surveillance plays a vital role in detecting early malignant transformation. Fluorodeoxyglucose (FDG) PET/CT, although falling out of favor, may be utilized as an imaging modality by physicians to determine such transformation, allowing for timely management and intervention. In this report, we share our experience with such a case.

Juvenile granulosa cell tumor in a transgender male with Ollier disease: A case report.

•Multiple case reports are published on patients with Ollier's disease presenting simultaneously with granulosa cell tumors.•More medical conditions are being treated with androgens and estrogens, including gender dysphoria.•Caution should be given to transgender patients on active hormonal therapy.•Providers should consider prescreening for hormonally responsive medical conditions.

Encondroma osificado en fémur. Una localización atípica. A propósito de un caso / Ossified enchondroma in femur. An atypical location. Case study

Presentamos el caso de un hombre de 61 años en el que se halló de forma incidental un encondroma a nivel proximal de fémur. Tras seguimiento, se observó la estabilidad de la lesión. El encondroma es un tumor de origen cartilaginoso benigno. Se localiza principalmente en las falanges de las manos y los pies, aunque puede observarse en húmero o fémur. Por lo general, es una lesión asintomática y se halla de manera incidental. En las radiografías suelen verse lesiones redondeadas bien definidas con radiolucidez central. Se recomienda el seguimiento con radiografías seriadas para comprobar la progresión o estabilidad de la lesión y hacer su diagnóstico diferencial con el condrosarcoma.(AU)

We report the case of a 61-year-old man in whom an enchondroma was incidentally detected at the proximal level of the femur. After follow-up the lesion was stable. Enchondroma is a benign cartilaginous tumor. It is located mainly in the phalanges of the hands and feet, although it can be seen in the humerus or femur. It is usually an asymptomatic lesion, found incidentally. On x-rays, well-defined round lesions with central radiolucency are usually observed. Follow-up with serial x-rays is recommended to verify the lesion’s course or stability and make its differential diagnosis with chondrosarcoma.(AU)

Cemented K-wire external fixation in juxta-articular enchondroma-related phalangeal pathological fracture.

PURPOSE: This study aimed to introduce a technique of external fixation using a combination of bone cement and K-wires, to treat pathological fractures related to solitary digital enchondroma close to the finger joints. METHODS: From October 2015 to January 2021, 21 patients (8 males and 13 females) with acute pathological fracture due to solitary digital enchondroma close to the finger joints were treated with cemented K-wire external fixators. Mean age was 32 (19-51) years. The digits involved were the index (n = 4), long (n = 4), ring (n = 6), and little (n = 7) fingers. Time to bone healing and complications were assessed. At final follow-up, active range of motion, grip strength and key pinch strength of the tumor-involved and contralateral healthy digits were measured and compared. Functional outcomes were evaluated on Takigawa criteria. Pain was measured on a 10-cm visual analog scale. We assessed the affected upper extremity on the Musculoskeletal Tumor Society score questionnaire. RESULTS: Mean bone healing time was 5.5 (4-8) weeks. Pin site infection was observed in 1 patient and cured with dressing changes. Mean follow-up was 34 months, with no recurrences or refractures. Mean active range of motion of the proximal interphalangeal joint, grip and key pinch strength of the involved digits reached 92%, 97%, and 99% of the contralateral digits, respectively. On Takigawa criteria, 20 functional results were excellent and 1 good. Mean pain score was 1 (0-3) cm. Mean Musculoskeletal Tumor Society score was 95 (80-100). CONCLUSION: The combination of bone cement and K-wires is a reliable technique for pathological fracture related to solitary enchondroma close to the joints of the digits, leading to good functional outcomes. LEVEL OF EVIDENCE: Therapeutic study, Level IVa.

Intramedullary Fixation with Cannulated Screw After Resection of Enchondroma in the Hand: Technique Description and Case Series.

Purpose: Enchondromas are primary, benign bone neoplasms that arise from intramedullary proliferation of hyaline cartilage cells. Slow and progressive in growth, enchondromas can lead to bone destruction, deformities, and fractures. The treatment of enchondromas remains controversial. We hereby describe the technique for bone fixation using headless intramedullary screws (HISs) after enchondroma resection in the long bones of the hand. Methods: From January 2018 to June 2021, all patients treated with HISs after the resection of enchondroma of the hand were retrospectively assessed and included in the study. The series comprised four patients with a minimum postoperative follow-up period of 12 months. Postoperative functional results were measured according to Takigawa criteria and postoperative radiographic results were graded according to the Tordai system. Results: After tumor resection and screw fixation, one patient had autologous bone grafting from the iliac crest, and another had the defect filled with calcium phosphate cement. All patients were followed up for at least 12 months, and the mean healing time of the pathologic fracture was 5 weeks. There were neither complications related to the procedure nor the need for a second surgery. Conclusions: We describe the technique of intramedullary headless screws for bone fixation after enchondroma resection in the long bones of the hand, as well as the excellent functional, cosmetic, and radiographic results of four patients treated with the technique presented herewith. Type of study/level of evidence: Therapeutic IV.

Surgical Management of Enchondromas of the Hand: A 12-Year Experience.

Objective Enchondromas are benign tumours of hyaline cartilage most frequently arising in the bones of the hand and the optimum surgical management strategy for these is debated. We present an audit of the surgical management of 57 enchondromas referred to our tertiary hand surgery department over a period of 12 years (2008-2020) and describe our surgical technique for this procedure as well as a comparison with other studies in the literature. Materials and Methods Retrospective audit of our practice. Data were extracted from our institutional operative database to identify all patients undergoing surgical management of enchondromas during the time period. The individual electronic patient records were then evaluated to extract demographics and outcome data. Results Our results demonstrate excellent clearance of enchondroma (74% Tordai group 1 radiological resolution) with very low complication rates and no recurrence. Our results also emphasize the importance of surgical management of enchondromas to allow diagnosis of rare chondrosarcoma (3.5% in this study). Conclusion A larger randomized controlled trial is still required to adequately determine the differences between the surgical options available and determine the best possible surgical approach to these cases. Level of evidence is III.

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.

Background: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. Case Description: Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. Conclusions: The presence of an IDH1 mutation is notable because this mutation is frequently seen in glial tumors and other neoplasms, and its co-occurrence with Maffucci syndrome may represent a novel risk factor for the development of gliomas. This case underscores the importance of genetic testing in patients with Maffucci syndrome who present with central nervous system tumors, as well as the need for further research to understand the relationship between IDH1 mutations and the development of gliomas in this population.

Unusual Site of a Bizarre Parosteal Osteochondromatous Proliferation (Nora's Lesion) Involving the Scapula: First Case Report and Review of the Literature.

Bizarre parosteal osteochondromatous proliferation (BPOP), also known as Nora's lesion, is a rare benign surface lesion of bone that typically occurs in the hands and feet. We report herein the first case of BPOP occurring in an unusual location, specifically the scapula of a 29-year-old male patient. The lesion exhibited features mimicking those of a peripheral chondrosarcoma because of its atypical location in the axial skeleton and the presence of calcification, which indicates the presence of cartilaginous matrix. Treatment involved a wide surgical resection, and histopathological examination confirmed the diagnosis of BPOP of the bone. At a five-year follow-up, there was no evidence of local recurrence.

Prevalence and characteristics of benign cartilaginous tumours of the knee joint as identified on MRI scans.

BACKGROUND: Enchondromas (EC) and atypical cartilaginous tumours (ACT) of the knee joint represent benign/intermediate chondromatous neoplasms of the bone that are most commonly discovered incidentally. Based on small to intermediate-sized cohorts, the prevalence of cartilaginous tumours of the knee as visible in MRI is estimated at 0.2-2.9%. This study aimed at verifying/challenging these numbers via retrospective examination of a larger, uniform patient cohort. METHODS: Between 01.01.2007 and 01.03.2020, 44,762 patients had received an MRI of the knee for any indication at a radiologic centre. Of these, 697 patients presented with MRI reports positive for cartilaginous lesions. In a three-step workflow, 46 patients were excluded by a trained co-author, a radiologist and an orthopaedic oncologist, as wrongly being diagnosed for a cartilage tumour. RESULTS: Of 44,762 patients, 651 presented with at least one EC/ACT indicating a prevalence of 1.45% for benign/intermediate cartilaginous tumours of the knee joint (EC: 1.4%; ACTs: 0.05%). As 21 patients showed 2 chondromatous lesions, altogether 672 tumours (650 ECs [96.7%] and 22 ACTs [3.3%]) could be analysed in terms of tumour characteristics: With a mean size of 1.6 ± 1.1 cm, most lesions were located in the distal femur (72.9%), in the metaphysis of the respective bone (58.9%) and centrally in the medullary canal (57.4%). CONCLUSIONS: This study revealed an overall prevalence of 1.45% for cartilage lesions around the knee joint. Whilst a constant increase in prevalence was found for ECs over 13.2 years, prevalence remained constant for ACTs.

A Rare Occurrence of Enchondroma in the Head of Femur in an Adult Male: A Case Report.

Introduction: Enchondroma is a solitary, benign, and intramedullary cartilaginous tumor occurring most commonly in small bones of hands and feet contributing to 3-10% of all bone tumors. They originate from the growth plate cartilage which later on proliferates to form enchondroma. Lesions are central or eccentric and metaphyseal involvement is most common for long bones. We report a case of atypical occurrence of enchondroma in the head of femur in a young male. Case Report: A 20-year-old male patient presented with a history of pain in the left groin for 5 months. Radiological examination showed a lytic lesion in the head of femur. The patient was managed by safe surgical dislocation of the hip, curettage with autogenous iliac crest bone graft with countersunk screw fixation. Histopathology confirmed the lesion to be enchondroma. At the latest follow-up after 6 months, the patient was symptom-free and there was no evidence of any recurrence. Conclusion: Lytic lesions in the neck femur can have a good prognosis provided timely diagnosis and interventions are done. The present case of enchondroma in the head of femur represents a very rare differential diagnosis for the same and this must be kept in mind. So far, no such case has been reported in the literature. Magnetic resonance imaging and histopathology are of the essence to confirm this entity.

Chondroblastoma of Metacarpal Masquerading as Enchondroma - A Case Report.

Introduction: Chondroblastoma is a rare and benign bone neoplasm that accounts for <1% of all bone tumors. Chondroblastomas of the hand are extremely rare, while enchondromas are the most common bone tumor of the hand. Case Report: A 14-year-old girl had complaints of pain and swelling over the base of her thumb for 1 year. On examination, a solitary and hard swelling was palpable over the base of the thumb, with terminal restriction of first metacarpophalangeal joint movements. Radiographs revealed an expansile and lytic lesion in the epiphyseal region of the first metacarpal. Chondroid calcifications were absent. Magnetic resonance imaging showed a lesion with the hypointense signal on T1 and T2 sequences. These suggested a diagnosis of enchondroma. Excisional biopsy of the lesion, bone grafting, and Kirschner wire fixation was performed. Histological examination showed the lesion to be a chondroblastoma. No recurrence was noted at the 1-year follow-up. Conclusion: Chondroblastomas can very rarely occur in the bones of the hand. In such cases, differentiating them from enchondromas and ABCs is a challenge. Characteristic chondroid calcifications may be absent in nearly half of such cases. Curettage with bone grafting provides a good outcome with no recurrence.

Coexisting Benign Tumors in a Finger Are Rare but Not Impossible.

Giant cell tumors of the tendon sheath (GCTTS) and enchondroma are identified as the most prevalent benign soft tissue and bone tumors of the hand. While their individual presence is a common finding, their concurrent appearance in the same anatomic region is exceptionally rare, making simultaneous diagnosis more burdensome. We present a noteworthy case of GCTTS and enchondroma in the index finger of a young patient, along with the therapeutic strategy for correct diagnosis and effective treatment of such an occurrence.

The use of radiomics and machine learning for the differentiation of chondrosarcoma from enchondroma.

PURPOSE: To construct and compare machine learning models for differentiating chondrosarcoma from enchondroma using radiomic features from T1 and fat suppressed Proton density (PD) magnetic resonance imaging (MRI). METHODS: Eighty-eight patients (57 with enchondroma, 31 with chondrosarcoma) were retrospectively included. Histogram matching and N4ITK MRI bias correction filters were applied. An experienced musculoskeletal radiologist and a senior resident in radiology performed manual segmentation. Voxel sizes were resampled. Laplacian of Gaussian filter and wavelet-based features were used. One thousand eight hundred eighty-eight features were obtained for each patient, with 944 from T1 and 944 from PD images. Sixty-four unstable features were removed. Seven machine learning models were used for classification. RESULTS: Classification with all features showed neural network was the best model for both readers' datasets with area under the curve (AUC), classification accuracy (CA), and F1 score of 0.979, 0.984; 0.920, 0.932; and 0.889, 0.903, respectively. Four features, including one common to both readers, were selected using fast correlation based filter. The best performing models with selected features were gradient boosting for Fatih Erdem's dataset and neural network for Gülen Demirpolat's dataset with AUC, CA, and F1 score of 0.990, 0.979; 0.943, 0.955; 0.921, 0.933, respectively. Neural Network was the second-best model for FE's dataset based on AUC (0.984). CONCLUSION: Using pathology as a gold standard, this study defined and compared seven well-performing models to distinguish enchondromas from chondrosarcomas and provided radiomic feature stability and reproducibility among the readers.