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AIMS: Fibrocartilaginous dysplasia (FCD) is a subvariant of fibrous dysplasia (FD). This study aims to retrospectively elucidate the clinicopathological and separate genetic features of the cartilaginous and fibro-osseous components of FCD. METHODS: In total, 24 patients (14 men and 10 women) with FCD were included in our cohort. The diagnosis was confirmed morphologically and immunohistochemically, and genetic features were determined via Sanger sequencing. RESULTS: Five patients were polyostotic, and 19 were monostotic, predominantly concerning the femur. Radiography revealed a well-demarcated ground glass appearance with ring-like or scattered calcification. Histologically, the lesions were characterised by proliferative fibroblasts, immature woven bone and highly differentiated hyaline cartilage. The fibro-osseous components exhibited positive immunoreaction with SATB2 and a low Ki-67 proliferation index. The fibro-osseous and cartilaginous components shared mutations at codon 201 in exon 8 of the guanine nucleotide-binding protein/a-subunit (GNAS) gene, specifically CGT>CAT (p.R201H) in four patients and the wild-type isocitrate dehydrogenase (IDH)1/IDH2 gene. Telomerase reverse transcriptase (TERT) promoter mutations (C288T and C229G) occurred in both fibro-osseous and cartilaginous components in two patients. CONCLUSIONS: FCD encompasses areas of conventional FD with additional cartilage. Importantly, the presence or absence of mutations in the GNAS gene and/or the TERT promoter is common between the fibro-osseous and cartilaginous components of the disease. These results further confirmed FCD as a variant of FD.

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Background: Most primary bone tumors are often found in the bone around the knee joint. However, the detection of primary bone tumors on radiographs can be challenging for the inexperienced or junior radiologist. This study aimed to develop a deep learning (DL) model for the detection of primary bone tumors around the knee joint on radiographs. Methods: From four tertiary referral centers, we recruited 687 patients diagnosed with bone tumors (including osteosarcoma, chondrosarcoma, giant cell tumor of bone, bone cyst, enchondroma, fibrous dysplasia, etc.; 417 males, 270 females; mean age 22.8±13.2 years) by postoperative pathology or clinical imaging/follow-up, and 1,988 participants with normal bone radiographs (1,152 males, 836 females; mean age 27.9±12.2 years). The dataset was split into a training set for model development, an internal independent and an external test set for model validation. The trained model located bone tumor lesions and then detected tumor patients. Receiver operating characteristic curves and Cohen's kappa coefficient were used for evaluating detection performance. We compared the model's detection performance with that of two junior radiologists in the internal test set using permutation tests. Results: The DL model correctly localized 94.5% and 92.9% bone tumors on radiographs in the internal and external test set, respectively. An accuracy of 0.964/0.920, and an area under the receiver operating characteristic curve (AUC) of 0.981/0.990 in DL detection of bone tumor patients were for the internal and external test set, respectively. Cohen's kappa coefficient of the model in the internal test set was significantly higher than that of the two junior radiologists with 4 and 3 years of experience in musculoskeletal radiology (Model vs. Reader A, 0.927 vs. 0.777, P<0.001; Model vs. Reader B, 0.927 vs. 0.841, P=0.033). Conclusions: The DL model achieved good performance in detecting primary bone tumors around the knee joint. This model had better performance than those of junior radiologists, indicating the potential for the detection of bone tumors on radiographs.

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PURPOSE: To explain the needs for rehabilitation of patients with bone sarcoma before and after surgical resection and reconstruction with megaprosthesis. MATERIALS AND METHODS: We performed a qualitative study following constructivist grounded theory principles. We purposefully recruited rich cases. Data were collected using semi-structured interviews and analyzed with grounded theory data-analysis. Initial, focused, and theoretical coding were first performed independently by two authors and followed by discussion in consensus meetings with all authors. Ultimately, a conceptual model was created. RESULTS: Thirteen participants were interviewed between March and May 2023. Seven theoretical codes were found. The first is the need to achieve a new normal, being able to function with their medical history and megaprosthesis in a new normal life. Two key values patients needed were being understood and being prepared. Four important conditions that patients needed were: optimal conditions for rehabilitation, a trustworthy physical therapist, a clear closure from rehabilitation, and access to expertise in the hospital. The core category was achieving a new normal. CONCLUSIONS: Patients with bone sarcoma need rehabilitation to achieve a new normal life. With the understanding of needs regarding rehabilitation now gained, the care for patients with bone sarcoma should be better tailored.

Bone sarcoma is a life threatening, disabling disease requiring intensive medical treatment.The goal of rehabilitation should be to help patients achieve a new normal.Rehabilitation professionals will need to acquire the additional knowledge and relevant skills to treat patients.Rehabilitation professionals should prepare the patients by providing clear and uniform information about their rehabilitation.

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BACKGROUND: Isolated tumours affecting the coccyx are infrequent, with only a handful of documented cases in the literature. Herein, we highlight the most extensive consecutive case series involving various isolated coccyx tumours with varied clinical presentations and imaging features. MATERIAL AND METHODS: A retrospective search of our tertiary Orthopaedic oncology institute's oncology and Radiology database (Radiology Information System (RIS), Picture Archiving and Communication System (PACS) and Computerised Radiology Information System (CRIS) for the keyword 'Coccyx' and 'Tumour' was performed over 15 years (between December 2007 to August 2022).Data collected was correlated with local histopathology and laboratory records. Patient demographics, clinical characteristics and complementary imaging findings were recorded for analysis. RESULTS: One hundred and three lesions originating in the coccyx with a mean age of 62 years (range 25 to 90 years) were identified. There was a male preponderance with 59 male and 44 female patients (1.3:1.0). The most typical tumour noted was chordoma. Other lesions included a dermoid cyst, a myxopapillary ependymoma, a notochordal remnant, an osteochondroma, an Ewings sarcoma and a teratoma. CONCLUSION: Our analysis suggests that most of the tumours involving coccyx are chordomas with a few rarely encountered benign and malignant tumors. Radiological imaging plays a vital role in characterising isolated tumours affecting the coccyx and guiding appropriate patient management. ADVANCES IN KNOWLEDGE: This is the largest reported series of coccygeal tumours. Chordoma is the commonest coccygeal tumour. Patients with unexplained coccydynia should undergo detailed investigations, preferably with cross-sectional imaging.

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A 40-year-old female presented with right mandibular swelling. A panoramic radiograph showed a unilocular radiolucency from the mandibular angle to tooth #46. Biopsy confirmed a schwannoma. Surgical resection was performed via a submandibular approach with a reconstruction plate. Teeth 46 and 47 were extracted. Surgery was complication-free, and histopathology confirmed the tumor's benign nature. The patient was discharged on the second postoperative day. At the 1-year follow-up, she had no paresthesia, normal mouth opening, and full mandibular motion. The reconstruction plate was intact. This case adds to the limited literature on intraosseous schwannomas, emphasizing early detection, thorough radiological assessment, and meticulous surgical planning.

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Primary bone lymphoma, a rare oncologic entity, may initially present with minimal symptoms. Presenting symptoms range from local pain and mild systemic symptoms to large palpable masses and pathologic fractures. The term "primary bone lymphoma" indicates the finding of bone involvement without other organ sites for at least 6 months. Although some radiological features may raise suspicion about this tumor form, there are no pathognomonic imaging findings, and the diagnosis will likely be delayed for a long time. The most critical radiological feature is soft tissue involvement associated with a preserved cortical layer, much more than expected for an infiltrating lesion. Anyway, very different radiological findings may be displayed in patients with primary bone lymphoma. Although these radiological features of primary bone lymphoma have been discussed in the literature by various authors, there is little data concerning imaging in pediatric patients. This paper aims to depict the possible spectrum of imaging features of primary bone lymphoma in the pediatric age, providing an exemplification pictorial essay extracted from a single institution experience in the year range period 2006-2022.

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BACKGROUND: Chordomas and chondrosarcomas of the skull base are rare, slowly growing malignant bone neoplasms. Despite their radioresistant properties, proton therapy has been successfully used as an adjunct to resection or as a definitive treatment. Herewith, we present our experience with robustly optimized intensity-modulated proton therapy (IMPT) and related toxicities in skull base chordoma and chondrosarcoma patients treated at HollandPTC, Delft, the Netherlands. METHODS: Clinical data, treatment plans, and acute toxicities of patients treated between July 2019 and August 2021 were reviewed. CT and 3.0T MRI scans for treatment planning were performed in supine position in a thermoplastic mold. In total, 21 dose optimization and 28 dose evaluation scenarios were simulated. Acute toxicity was scored weekly before and during the treatment according to the CTCAE v4.0. Median follow-up was 35 months (range 12-36 months). RESULTS: Overall, 9 chordoma and 3 chondrosarcoma patients with 1-3 resections prior to IMPT were included; 4 patients had titanium implants. Brainstem core and surface and spinal cord core and surface were used for nominal plan robust optimization in 11, 10, 8, and 7 patients, respectively. Middle ear inflammation, dry mouth, radiation dermatitis, taste disorder, and/or alopecia of grades 1-3 were noted at the end of treatment among 6 patients without similar complaints at inclusion; symptoms disappeared 3 months following the treatment. CONCLUSION: Robustly optimized IMPT is clinically feasible as a postoperative treatment for skull base chordoma and chondrosarcoma patients. We observed acceptable early toxicities (grade 1-3) that disappeared within the first 3 months after irradiation.

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PURPOSE: Morphological magnetic resonance (MR) and computed tomography (CT) features are used in combination with histology for diagnosis and treatment selection of primary bone neoplasms. Isolated functional MRI parameters have shown potential in diagnosis. Our goal is to facilitate diagnosis of primary bone neoplasms of the skull base, mobile spine and sacrum, by a comprehensive approach, combining morphological and functional imaging parameters. MATERIALS AND METHODS: Pre-treatment MR of 80 patients with histologically proven diagnosis of a primary bone neoplasm of the skull base, mobile spine and sacrum were retrospectively analyzed for morphological and functional MRI parameters. Functional parameters were measured in 4 circular regions of interest per tumor placed on non-adjacent scan slices. Differences in values of functional parameters between different histologies were analyzed with Dunn's test. RESULTS: Chordomas were the predominant histology (60.0%). Most neoplasms (80.0%) originated in the midline and had geographical (78.2%) bone destruction. Amorphous-type calcification (pre-existing bone) was seen only in chordomas. Homogeneous contrast enhancement pattern was seen only in chondrosarcoma and plasmacytoma. Ktrans and Kep were significantly lower in both chordoma, and chondrosarcoma compared to giant cell tumor of the bone (p = 0.006 - 0.011), and plasmacytoma (p = 0.004 - 0.014). Highest diffusion-weighted MRI apparent diffusion coefficient (ADC) values corresponded to chondrosarcoma and were significantly higher to those of chordoma (p = 0.008). CONCLUSION: We identified the most discriminating morphological parameters and added functional MR parameters based on histopathological features that are useful in making a confident diagnosis of primary bone neoplasms in the skull base, mobile spine and sacrum.

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Desmoplastic fibroma of bone is a very uncommon, benign but locally aggressive fibrogenic tumor. This report describes the case of a 45-year-old patient with a massive desmoplastic fibroma of the proximal tibia. A two-staged surgical procedure was successfully performed: wide resection and endoprosthetic reconstruction. Surgeons should be aware of the complexity of its treatment in the locally advanced and aggressive cases. A comprehensive review of the literature is also provided.

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Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosis requires a combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.

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Bone cancer pain (BCP) profoundly impacts patient's quality of life, demanding more effective pain management strategies. The aim of this systematic review was to investigate the role of inflammatory cytokines as potential molecular targets in BCP. A systematic search for animal rodent models of bone cancer pain studies was conducted in PubMed, Scopus, and Web of Science. Methodological quality and risk of bias were assessed using the SYRCLE RoB tool. Twenty-five articles met the inclusion criteria, comprising animal studies investigating molecular targets related to inflammatory cytokines in BCP. A low to moderate risk of bias was reported. Key findings in 23 manuscripts revealed upregulated classic pro-inflammatory cytokines (TNF-α, IL-1ß, IL-6, IL-17, IL-18, IL-33) and chemokines in the spinal cord, periaqueductal gray, and dorsal root ganglia. Interventions targeting these cytokines consistently mitigated pain behaviors. Additionally, it was demonstrated that glial cells, due to their involvement in the release of inflammatory cytokines, emerged as significant contributors to BCP. This systematic review underscores the significance of inflammatory cytokines as potential molecular targets for alleviating BCP. It emphasizes the promise of targeted interventions and advocates for further research to translate these findings into effective therapeutic strategies. Ultimately, this approach holds the potential to enhance the patient's quality of life.

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Introduction: Osteoid osteoma is a benign bone tumor that accounts for roughly 2-3% of primary bone tumors and up to 10-12% of benigns bone neoplasms. It is most commonly seen in young adults, and shows male predominance. Over the last years, minimally invasive thermal ablation techniques such as radiofrequency ablation have gained popularity over classical surgery. In this study we evaluate results and complications of CT guided osteoid osteoma radiofrequency ablation. Materials and methods: In this retrospective cohort study all patients that were diagnosed with osteoid osteoma and treated using radiofrequency ablation between January 2014 and December 2022 were included. Pain was assessed using Visual Analog Scale (VAS) pre and post procedure. Technical success was established as positioning of the radiofrequency electrode in the nidus. Primary clinical success was defined as absence of pain after one radiofrequency session. All patients that required a second radiofrequency ablation were included in the overall clinical success group. Results: During the studied period, 61 osteoid osteoma radiofrequency ablations were performed. Fiftyseven of them were included in this study, 32 were men and 25 female. Pre procedure median pain was 9 according to VAS score. Only 23 patients were treated as outpatient, the rest stayed in hospital for 24 hours. Median follow up time was 21,7 months (SD 8,3). Biopsy was performed in 52 patients. Technical success was accomplished in 57 patients (100%). Primary clinical success was 80,7% (46 patients). Those who continued with pain or had recurrence after a symptoms free period (11 patients), were treated with a second radiofrequency ablation, achieving an overall success rate of 94,7%. Only one patient suffered a minor complication (1,7%). Conclusion: CT guided osteoid osteoma radiofrequency ablation is a safe, effective and low complication rate procedure, that can be performed on an outpatient basis. We believe it should be considered as a first line treatment option for osteoid osteoma.

Introducción: El osteoma osteoide es un tumor óseo benigno, que representa el 2-3% de las neoplasias óseas primarias y hasta el 10-12% de los tumores óseos benignos. Tiene mayor incidencia en adultos jóvenes, con predominancia masculina. En los últimos años las técnicas de termoablación mínimamente invasivas han sido utilizadas para el tratamiento del osteoma osteoide, como alternativa a la cirugía clásica. En este estudio evaluaremos los resultados y complicaciones de ablación por radiofrecuencia de osteoma osteoide. Materiales y métodos: Se analizó una cohorte de pacientes en forma retrospectiva con diagnóstico de osteoma osteoide tratados con radiofrecuencia en el Hospital Italiano de Buenos Aires desde Enero del año 2014 hasta Diciembre del año 2022. Todos los pacientes fueron evaluados con la Escala Visual Analógica del dolor (EVA) pre y post procedimiento. El éxito técnico del procedimiento fue considerado como el correcto posicionamiento del electrodo de radiofrecuencia en el nido de la lesión, y el éxito clínico primario como ausencia de dolor post procedimiento. Mientras que los pacientes que requirieron de una segunda sesión de radiofrecuencia para controlar los síntomas serán incluidos como éxito clínico secundario. Resultados: Durante el período mencionado se realizaron 61 ablaciones percutáneas de osteoma osteoide. Se incluyeron en el análisis 57 pacientes, 32 fueron hombres y 25 mujeres. La media de dolor medido por EVA pre procedimiento fue 9. Del total de los pacientes, 23 fueron tratados de manera ambulatoria, el resto permanecieron internados durante 24hs. El tiempo medio de seguimiento fue de 21,7 meses (DS8,3). Se realizó biopsia de la lesión durante el procedimiento en 52 pacientes. Se logró el éxito técnico en 57 pacientes (100%), de ellos el éxito clínico primario se logró en 46 pacientes (80,7%). Los 11 pacientes que continuaron con dolor o presentaron recurrencia de los síntomas luego de un período asintomáticos fueron tratados con una segunda sesión de radiofrecuencia, logrando un éxito clínico secundario 94,7%. Un solo paciente presentó complicaciones post procedimiento (1,7%), correspondiente a hematoma en la planta del pie. Conclusión: Podemos concluir que la ablación percutánea por radiofrecuencia de OO guiada por tomografía en manos de expertos, es un procedimiento seguro, de alta efectividad y baja tasa de complicaciones que puede realizarse de manera ambulatoria. Por lo que consideramos que debe ser tenida en cuenta como primera elección para el tratamiento de esta patología.

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Cancer cases and survival have increased significantly in recent decades. OBJECTIVE: In this study, we sought to evidence whether bone, joint and cartilage neoplasms are increasing with the aging of the Brazilian population, using the analysis of the DATASUS and IBGE databases, between 1979 and 2020. METHODS: We compared the means and the proportion of death in Brazil, to observe the confidence interval overlaps, separated by region. Comparison between genders, age group, death and specific rate were compared via proportion tests and the trend was investigated via time series analysis. RESULTS: Through the analyses, we can see that there is an increasing trend of cases, about 2.5 times in the period. Separated by region, the Southeast stands out, with a number of deaths about 6 times higher than other regions. CONCLUSION: Metastatic carcinoma is the most common neoplasm treated by orthopedic surgeons, and it is essential to adapt to this future projection, with cases of pathological bone involvement resulting from metastatic carcinomas, increasingly present in the routine of orthopedic surgeons. Level of Evidence IV, Cross-Sectional Observational Study.

Os casos oncológicos e a sobrevida aumentaram expressivamente nas últimas décadas. Objetivo: Investigar se as neoplasias de osso, articulação e cartilagem estão aumentando com o envelhecimento da população brasileira, por meio da análise das bases de dado do Sistema Único de Saúde (DATASUS) e do Instituto Brasileiro de Geografia e Estatística (IBGE), entre os anos de 1979 e 2020. Métodos: Realizamos a comparação de médias e de proporção de morte entre as regiões do Brasil para observar as sobreposições de intervalo de confiança em cada região. A comparação entre sexo, faixa etária, óbito e taxa específica foi feita via testes de proporção, e a tendência foi investigada via análise de séries temporais. Resultados: Foi evidenciada uma tendência crescente dos casos de neoplasia, com um aumento de cerca de 2,5 vezes no período analisado. Entre as regiões do Brasil, destacou-se o Sudeste, com número de mortes cerca de seis vezes maior que outras regiões. Conclusão: O carcinoma metastático é a neoplasia mais comum tratada pelos cirurgiões ortopédicos, e é fundamental nos adequarmos a essa projeção futura, com casos de comprometimento ósseo patológicos decorrentes de carcinomas metastáticos cada vez mais presentes na rotina do cirurgião ortopédico. Nível de Evidência IV, Estudo Observacional Transversal.

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BACKGROUND: Chondrosarcomas are rare malignant bone tumors diagnosed by analyzing radiological images and histology of tissue biopsies and evaluating features such as matrix calcification, cortical destruction, trabecular penetration, and tumor cell entrapment. METHODS: We retrospectively analyzed 16 cartilaginous tumor tissue samples from three patients (51-, 54-, and 70-year-old) diagnosed with a dedifferentiated chondrosarcoma at the femur, a moderately differentiated chondrosarcoma in the pelvis, and a predominantly moderately differentiated chondrosarcoma at the scapula, respectively. We combined a hematein-based x-ray staining with high-resolution three-dimensional (3D) microscopic x-ray computed tomography (micro-CT) for nondestructive 3D tumor assessment and tumor margin evaluation. RESULTS: We detected trabecular entrapment on 3D micro-CT images and followed bone destruction throughout the volume. In addition to staining cell nuclei, hematein-based staining also improved the visualization of the tumor matrix, allowing for the distinction between the tumor and the bone marrow cavity. The hematein-based staining did not interfere with further conventional histology. There was a 5.97 ± 7.17% difference between the relative tumor area measured using micro-CT and histopathology (p = 0.806) (Pearson correlation coefficient r = 0.92, p = 0.009). Signal intensity in the tumor matrix (4.85 ± 2.94) was significantly higher in the stained samples compared to the unstained counterparts (1.92 ± 0.11, p = 0.002). CONCLUSIONS: Using nondestructive 3D micro-CT, the simultaneous visualization of radiological and histopathological features is feasible. RELEVANCE STATEMENT: 3D micro-CT data supports modern radiological and histopathological investigations of human bone tumor specimens. It has the potential for being an integrative part of clinical preoperative diagnostics. KEY POINTS: • Matrix calcifications are a relevant diagnostic feature of bone tumors. • Micro-CT detects all clinically diagnostic relevant features of x-ray-stained chondrosarcoma. • Micro-CT has the potential to be an integrative part of clinical diagnostics.

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Integrating Artificial Intelligence (AI) in orthopaedic within lower-middle-income countries (LMICs) promises landmark improvement in patient care. Delving into specific use cases-fracture detection, spine imaging, bone tumour classification, and joint surgery optimisation-the review illuminates the areas where AI can significantly enhance orthopaedic practices. AI could play a pivotal role in improving diagnoses, enabling early detection, and ultimately enhancing patient outcomes- crucial in regions with constrained healthcare services. Challenges to the integration of AI include financial constraints, shortage of skilled professionals, data limitations, and cultural and ethical considerations. Emphasising AI's collaborative role, it can act as a complementary tool working in tandem with physicians, aiming to address gaps in healthcare access and education. We need continued research and a conscientious approach, envisioning AI as a catalyst for equitable, efficient, and accessible orthopaedic healthcare for patients in LMICs.

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Carpal bone tumors must be investigated in clinical cases of chronic wrist pain with no previous trauma. Intraosseous ganglion, enchondroma, osteoid osteoma, and, less commonly, osteoblastoma are potential causes of osteolytic lesions affecting the carpal bones. In most cases, the clinical presentation alone is not enough to differentiate such lesions. Knowledge of certain characteristics, including the radiological and histopathological aspects of each of these tumors, is critical in order to make the differential diagnosis. We present a rare case of osteoblastoma of the capitate bone and review the literature on the subject.

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OBJECTIVE: To develop and evaluate a deep learning model for automated segmentation and detection of bone metastasis on spinal MRI. MATERIALS AND METHODS: We included whole spine MRI scans of adult patients with bone metastasis: 662 MRI series from 302 patients (63.5 ± 11.5 years; male:female, 151:151) from three study centers obtained between January 2015 and August 2021 for training and internal testing (random split into 536 and 126 series, respectively) and 49 MRI series from 20 patients (65.9 ± 11.5 years; male:female, 11:9) from another center obtained between January 2018 and August 2020 for external testing. Three sagittal MRI sequences, including non-contrast T1-weighted image (T1), contrast-enhanced T1-weighted Dixon fat-only image (FO), and contrast-enhanced fat-suppressed T1-weighted image (CE), were used. Seven models trained using the 2D and 3D U-Nets were developed with different combinations (T1, FO, CE, T1 + FO, T1 + CE, FO + CE, and T1 + FO + CE). The segmentation performance was evaluated using Dice coefficient, pixel-wise recall, and pixel-wise precision. The detection performance was analyzed using per-lesion sensitivity and a free-response receiver operating characteristic curve. The performance of the model was compared with that of five radiologists using the external test set. RESULTS: The 2D U-Net T1 + CE model exhibited superior segmentation performance in the external test compared to the other models, with a Dice coefficient of 0.699 and pixel-wise recall of 0.653. The T1 + CE model achieved per-lesion sensitivities of 0.828 (497/600) and 0.857 (150/175) for metastases in the internal and external tests, respectively. The radiologists demonstrated a mean per-lesion sensitivity of 0.746 and a mean per-lesion positive predictive value of 0.701 in the external test. CONCLUSION: The deep learning models proposed for automated segmentation and detection of bone metastases on spinal MRI demonstrated high diagnostic performance.

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AIMS: The purpose of this study is to report novel and unusual USP6 fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology of USP6-related disorders. METHODS: A cohort of seven patients diagnosed with ABC examined between 2014 and 2023 at Motol University Hospital in Prague was included into this retrospective non-randomised study. All cases were analysed using histopathological evaluation, immunohistochemistry and Anchored multiplex RNA methods. Demographic characteristics and clinical data were also analysed. RESULTS: We identified two novel (ZFX and IP6K2), three unusual (MEF2A, EIF1 and COL1A2) and two common (CDH11) fusion partners with USP6 gene among all seven cases of ABC. CONCLUSIONS: Cases in our study were diagnosed as ABCs due to characteristic clinical and morphological presentation. However, not all cases are as self-evident, and molecular testing is necessary. The identification of these gene alterations can be useful in distinction between true ABC and ABC-like changes among many benign and malignant bone tumours.

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OBJECTIVES: To develop an algorithm to link undiagnosed patients to previous patient histories based on radiographs, and simultaneous classification of multiple bone tumours to enable early and specific diagnosis. MATERIALS AND METHODS: For this retrospective study, data from 2000 to 2021 were curated from our database by two orthopaedic surgeons, a radiologist and a data scientist. Patients with complete clinical and pre-therapy radiographic data were eligible. To ensure feasibility, the ten most frequent primary tumour entities, confirmed histologically or by tumour board decision, were included. We implemented a ResNet and transformer model to establish baseline results. Our method extracts image features using deep learning and then clusters the k most similar images to the target image using a hash-based nearest-neighbour recommender approach that performs simultaneous classification by majority voting. The results were evaluated with precision-at-k, accuracy, precision and recall. Discrete parameters were described by incidence and percentage ratios. For continuous parameters, based on a normality test, respective statistical measures were calculated. RESULTS: Included were data from 809 patients (1792 radiographs; mean age 33.73 ± 18.65, range 3-89 years; 443 men), with Osteochondroma (28.31%) and Ewing sarcoma (1.11%) as the most and least common entities, respectively. The dataset was split into training (80%) and test subsets (20%). For k = 3, our model achieved the highest mean accuracy, precision and recall (92.86%, 92.86% and 34.08%), significantly outperforming state-of-the-art models (54.10%, 55.57%, 19.85% and 62.80%, 61.33%, 23.05%). CONCLUSION: Our novel approach surpasses current models in tumour classification and links to past patient data, leveraging expert insights. CLINICAL RELEVANCE STATEMENT: The proposed algorithm could serve as a vital support tool for clinicians and general practitioners with limited experience in bone tumour classification by identifying similar cases and classifying bone tumour entities. KEY POINTS: • Addressed accurate bone tumour classification using radiographic features. • Model achieved 92.86%, 92.86% and 34.08% mean accuracy, precision and recall, respectively, significantly surpassing state-of-the-art models. • Enhanced diagnosis by integrating prior expert patient assessments.

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