[Delayed diagnosis of osteosarcoma in adults: a prognostic factor to be considered]. / Retraso en el diagnóstico de osteosarcoma en adultos: un factor pronóstico que debemos considerar.

INTRODUCTION: different variables have been associated with a worse prognosis of patients with osteosarcoma (OS), highlighting tumor size, location in the axial skeleton and the presence of metastases. The objective of this study is to analyze the prognostic impact of diagnostic delay in osteosarcoma in adults in the Mexican population in a center specialized in sarcomas. MATERIAL AND METHODS: retrospective cohort study from January 1, 2005, to December 31, 2016, 96 patients over 21 years of age with a diagnosis of osteosarcoma were analyzed. RESULTS: the median time to diagnosis from the onset of symptoms was six months (range: 2-36). This variable was dichotomized by applying the operator-dependent curve (ROC) analysis and we determined a cut-off value greater than five months, with an area under the curve (AUC) = 0.93 [95% CI 0.86-0.97], sensitivity 93.2% and specificity 94.6%. CONCLUSION: time until diagnosis is a critical factor in the survival of adult patients with osteosarcoma, highlighting its influence on disease progression and the appearance of metastasis. The correlation between diagnostic delay and an unfavorable prognosis reinforces the need for rapid and efficient evaluation in suspected cases of osteosarcoma.

INTRODUCCIÓN: diferentes variables se han asociado con un peor pronóstico de los pacientes con osteosarcoma, destacando el tamaño tumoral, la localización en esqueleto axial y la presencia de metástasis. El objetivo de este estudio fue analizar el impacto pronóstico del retraso diagnóstico en osteosarcoma en adultos en población mexicana en un centro especializado en sarcomas. MATERIAL Y MÉTODOS: estudio de tipo cohorte retrospectiva del 1 de Enero del 2005 al 31 de Diciembre de 2016, se analizaron 96 pacientes mayores de 21 años con diagnóstico de osteosarcoma. RESULTADOS: la mediana de tiempo al diagnóstico desde el inicio de síntomas fue de seis meses (rango: 2-36). Esta variable se dicotomizó aplicando el análisis de curva dependiente de operador (ROC) y determinamos un valor de corte mayor a cinco meses con un área bajo la curva (AUC) = 0.93 [IC95% 0.86-0.97], sensibilidad 93.2% y especificidad 94.6%. CONCLUSIÓN: el tiempo hasta el diagnóstico es un factor crítico en la supervivencia de los pacientes adultos con osteosarcoma, destacando su influencia en la progresión de la enfermedad y la aparición de metástasis. La correlación entre el retraso diagnóstico y un pronóstico desfavorable refuerza la necesidad de una evaluación rápida y eficiente en casos sospechosos de osteosarcoma.

[Surgical treatment of chondromyxoid fibroma of ribs via thoracoabdominal access]. / Khirurgicheskoe lechenie khondromiksoidnoi fibromy reber iz kombinirovannogo torakoabdominal'nogo dostupa.

Surgical treatment of chondromyxoid fibroma of ribs is described. The diagnosis was verified after histological analysis. The patient underwent resection of multinodular tumor of anterolateral thoracic wall invading abdominal cavity via thoracoabdominal access. Postoperative period was uneventful. This case demonstrates the need for total en-bloc resection of tumor with surrounding tissues. Surgery is the only effective method for these patients.

Cortical hypertrophy in intramuscular hemangioma mimicking bone tumor.

Although hemangiomas are the most common soft tissue tumors, intramuscular hemangiomas account for only 0.8% of all vascular tumors. These lesions are rarely located adjacent to the bone and cause changes in the adjacent bone. They are often mistakenly diagnosed as bone tumors. In this study, a case of a 19-year-old male patient with intramuscular hemangioma causing cortical thickening was reported.

Heterogeneous Analysis of Extracellular Vesicles for Osteosarcoma Diagnosis.

Osteosarcoma (OS) is the most prevalent primary tumor of bones, often diagnosed late with a poor prognosis. Currently, few effective biomarkers or diagnostic methods have been developed for early OS detection with high confidence, especially for metastatic OS. Tumor-derived extracellular vesicles (EVs) are emerging as promising biomarkers for early cancer diagnosis through liquid biopsy. Here, we report a plasmonic imaging-based biosensing technique, termed subpopulation protein analysis by single EV counting (SPASEC), for size-dependent EV subpopulation analysis. In our SPASEC platform, EVs are accurately sized and counted on plasmonic sensor chips coated with OS-specific antibodies. Subsequently, EVs are categorized into distinct subpopulations based on their sizes, and the membrane proteins of each size-dependent subpopulation are profiled. We measured the heterogeneous expression levels of the EV markers (CD63, BMP2, GD2, and N-cadherin) in each of the EV subsets from both OS cell lines and clinical plasma samples. Using the linear discriminant analysis (LDA) model, the combination of four markers is applied to classify the healthy donors (n = 37), nonmetastatic OS patients (n = 13), and metastatic patients (n = 12) with an area under the curve of 0.95, 0.92, and 0.99, respectively. SPASEC provides accurate EV sensing technology for early OS diagnosis.

Subungual Osteochondroma of the Great Toe: A Case Report.

Bony outgrowths of the distal phalanx of the great toe have been described in the literature but rarely. These subungual bony outgrowths can be caused by subungual exostosis or subungual osteochondromas. Both of these abnormalities are bony outgrowths with differences in the cartilage cap wherein the exostoses have fibrocartilage, and osteochondromas have hyaline cartilage. The subungual exostosis and osteochondroma that are protruding present symptoms of pain, redness, and deformed nail bed, whereas the nonprotruding osteochondromas have only a lump as the presenting symptom. In both conditions, excision of the lesion and curettage of the base helps prevent a recurrence. Curettage at the end of the excision of the bony outgrowth is required to avoid recurrence. After excision, the specimen should be sent for histopathologic examination to differentiate between the exostosis and osteochondromas, which are underreported in subungual locations, and to rule out malignant transformation. We present a 13-year-old girl with an isolated subungual nonprotruding exostosis of the great toe that was treated by excisional biopsy. The histopathologic examination confirmed it as osteochondroma, which is underreported.

A Systemic Review of Primary Malignant Long Bone Tumors in Children and Adolescents.

PURPOSE OF THE STUDY: Managing bone tumours is complex, relying on limited evidence, expert opinions, and retrospective reviews. Multidisciplinary approaches and early diagnosis are crucial for better outcomes, especially in young patients with growing skeletons. The aim of this systemic review and meta-analysis is to give a comprehensive review of common malignant tumors affecting long bones in children and adolescents. MATERIAL AND METHODS: A PubMed/Medline search for "primary malignant long bone tumours in children" initially retrieved 1120 papers, which were subsequently narrowed down to 110 articles based on inclusion and exclusion criteria. These articles were reviewed, focusing on clinical presentation, diagnostic workup, treatment options, surgical planning, and variations in presentation, including rare tumours. The two most commonly reported tumours were osteosarcoma and Ewing sarcoma, leading to the division of studies into five groups. The inclusion criteria encompassed malignancies in patients aged 2-25 years, work-up, imaging, surgical treatment, rare tumour case reports, and surgical management principles, resulting in a heterogeneous group of articles. To enhance categorisation, it was clarified that studies with 10 or more cases were considered retrospective reviews. RESULTS: Reviewing of results thus demonstrate that the two likely tumours in children under consideration were osteosarcoma and Ewing sarcoma. Their presentation findings and clinical features were discussed in detail in the review. It is worth noting here that in case of differential diagnosis this should be the first on the list. DISCUSSION AND CONCLUSIONS: Although focus of literature is more on the two most common tumours. However, rare tumours should be considered as they can mimic these common tumors. KEY WORDS: primary, malignant, bone tumors, children, adolescent.

Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours.

The identification of gene fusions has become an integral part of soft tissue and bone tumour diagnosis. We investigated the added value of targeted RNA-based sequencing (targeted RNA-seq, Archer FusionPlex) to our current molecular diagnostic workflow of these tumours, which is based on fluorescence in situ hybridisation (FISH) for the detection of gene fusions using 25 probes. In a series of 131 diagnostic samples targeted RNA-seq identified a gene fusion, BCOR internal tandem duplication or ALK deletion in 47 cases (35.9%). For 74 cases, encompassing 137 FISH analyses, concordance between FISH and targeted RNA-seq was evaluated. A positive or negative FISH result was confirmed by targeted RNA-seq in 27 out of 49 (55.1%) and 81 out of 88 (92.0%) analyses, respectively. While negative concordance was high, targeted RNA-seq identified a canonical gene fusion in seven cases despite a negative FISH result. The 22 discordant FISH-positive analyses showed a lower percentage of rearrangement-positive nuclei (range 15-41%) compared to the concordant FISH-positive analyses (>41% of nuclei in 88.9% of cases). Six FISH analyses (in four cases) were finally considered false positive based on histological and targeted RNA-seq findings. For the EWSR1 FISH probe, we observed a gene-dependent disparity (p = 0.0020), with 8 out of 35 cases showing a discordance between FISH and targeted RNA-seq (22.9%). This study demonstrates an added value of targeted RNA-seq to our current diagnostic workflow of soft tissue and bone tumours in 19 out of 131 cases (14.5%), which we categorised as altered diagnosis (3 cases), added precision (6 cases), or augmented spectrum (10 cases). In the latter subgroup, four novel fusion transcripts were found for which the clinical relevance remains unclear: NAB2::NCOA2, YAP1::NUTM2B, HSPA8::BRAF, and PDE2A::PLAG1. Overall, targeted RNA-seq has proven extremely valuable in the diagnostic workflow of soft tissue and bone tumours.

Parosteal osteosarcoma with low grade chondrosarcoma and liposarcoma components. A rare histologic variant. Case report and literature review.

INTRODUCTION: conventional parosteal osteosarcoma is an uncommon malignant bone tumor, comprising 4% of all osteosarcomas. Although rare, parosteal osteosarcoma is the most common type of osteosarcoma of the bone surface. We present the clinical, histological and imaging characteristics of a rare histologic variant of a parosteal osteosarcoma, review the literature and emphasize the importance of radio-pathological correlation as well as the interpretation of a representative biopsy in order to obtain the correct diagnosis. CASE REPORT: a 36-year old woman began her condition one year prior to admission to the hospital with increased volume in the left knee and pain. Image studies showed a juxtacortical heterogeneous tumor localized on the posterior surface of the distal femoral metaphysis. An incisional biopsy was performed, with the diagnosis of a Parosteal Osteosarcoma and a wide surgical resection was undertaken. According to the findings of the surgical specimen, the diagnosis of a Parosteal Osteosarcoma with low grade chondrosarcoma and liposarcoma components was made. The knowledge of this rare parosteal osteosarcoma variant can lead the orthopedic oncologists to avoid overlooking the adipose component and provide adequate surgical margins. CONCLUSION: we present the clinical, histological and imaging characteristics of a Parosteal Osteosarcoma with low grade liposarcoma and chondrosarcoma components.

INTRODUCCIÓN: el osteosarcoma parosteal convencional es un tumor óseo maligno poco común, que comprende el 4% de todos los osteosarcomas. Aunque es poco común, el osteosarcoma parosteal es el tipo más común de osteosarcoma de la superficie ósea. Presentamos las características clínicas, histológicas y de imagen de una variante histológica rara de un osteosarcoma parosteal, revisamos la literatura y enfatizamos la importancia de la correlación radio-patológica, así como la interpretación de una biopsia representativa para obtener el diagnóstico correcto. REPORTE DE CASO: mujer de 36 años inició su cuadro un año antes de su ingreso al hospital con aumento de volumen en rodilla izquierda y dolor. Los estudios de imagen mostraron una tumoración heterogénea yuxtacortical localizada en la superficie posterior de la metáfisis femoral distal. Se realizó biopsia incisional, con diagnóstico de osteosarcoma parosteal y se realizó resección quirúrgica amplia. De acuerdo con los hallazgos de la pieza quirúrgica se realizó el diagnóstico de osteosarcoma parosteal con componentes de condrosarcoma y liposarcoma de bajo grado. El conocimiento de esta rara variante de osteosarcoma parosteal puede llevar a los ortopedistas oncólogos a considerar otros componentes y proporcionar márgenes quirúrgicos adecuados. CONCLUSIÓN: presentamos las características clínicas, histológicas y de imagen de un osteosarcoma parosteal con componentes de liposarcoma y condrosarcoma de bajo grado.

Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation.

AIM: Pseudouridylation has demonstrated the potential to control the development of numerous malignancies. PUS7(Pseudouridine Synthase 7) is one of the pseudouridine synthases, but the literature on this enzyme is limited to several cancer types. Currently, no investigation has been performed on the systematic pan-cancer analysis concerning PUS7 role in cancer diagnosis and prognosis. METHODS: Employing public databases, including The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression Project (GTEx), Human Protein Atlas (HPA), UALCAN and Tumor Immune Single-cell Hub (TISCH), this work investigated the PUS7 carcinogenesis in pan-cancer. Differential expression analysis, prognostic survival analysis and biological function were systematically performed. Furthermore, PUS7 potential as an osteosarcoma biomarker for diagnosis and prognosis was assessed in this study. RESULTS: The findings indicated that PUS7 was overexpressed in the majority of malignancies. High PUS7 expression contributed to the poor prognosis among 11 cancer types, including Adrenocortical Cancer (ACC), Bladder Cancer (BLCA), Liver Cancer (LIHC), Kidney Papillary Cell Carcinoma (KIRP), Mesothelioma (MESO), Lower Grade Glioma (LGG), Kidney Chromophobe (KICH), Sarcoma (SARC), osteosarcoma (OS), Pancreatic Cancer (PAAD), and Thyroid Cancer (THCA). In addition, elevated PUS7 expression was linked to advanced TNM across multiple malignancies, including ACC, BLCA, KIRP, LIHC and PAAD. The function enrichment analysis revealed that PUS7 participates in E2F targets, G2M checkpoint, ribosome biogenesis, and rRNA metabolic process. Moreover, PUS7 is also a reliable biomarker and a potential therapeutic target for osteosarcoma. CONCLUSIONS: In summary, PUS7 is a putative pan-cancer biomarker that reliably forecasts cancer patients' prognosis. In addition, this enzyme regulates the cell cycle, ribosome biogenesis, and rRNA metabolism. Most importantly, PUS7 possibly regulates osteosarcoma initiation and progression.

Inflammasome-related gene signatures as prognostic biomarkers in osteosarcoma.

Osteosarcoma, the primary bone cancer in adolescents and young adults, is notorious for its aggressive growth and metastatic potential. Our study delved into the prognostic impact of inflammasome-related gene signatures in osteosarcoma patients, employing comprehensive genetic profiling to uncover signatures linked with patient outcomes. We identified three patient subgroups through consensus clustering, with one showing worse survival rates correlated with high FGFR3 and RARB expressions. Immune profiling revealed significant immune cell infiltration differences among these subgroups, affecting survival. Utilising advanced machine learning, including StepCox and gradient boosting machine algorithms, we developed a prognostic model with a notable c-index of 0.706, highlighting CD36 and MYD88 as key genes. Higher inflammasome risk scores from our model were associated with poorer survival, corroborated across datasets. In vitro experiments validated CD36 and MYD88's roles in promoting osteosarcoma cell proliferation, invasion and migration, emphasising their therapeutic potential. This research offers new insights into inflammasomes' role in osteosarcoma, introducing novel biomarkers for risk assessment and potential therapeutic targets. Our findings suggest a pathway towards personalised treatment strategies, potentially improving patient outcomes in osteosarcoma.

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

PURPOSE: Tumor classification is a key component in personalized cancer care. For soft-tissue and bone tumors, this classification is currently based primarily on morphology assessment and IHC staining. However, these standard-of-care methods can pose challenges for pathologists. We therefore assessed how whole-genome and whole-transcriptome sequencing (WGTS) impacted tumor classification and clinical management when interpreted together with histomorphology. EXPERIMENTAL DESIGN: We prospectively evaluated WGTS in routine diagnostics of 200 soft-tissue and bone tumors suspicious for malignancy, including DNA and RNA isolation from the tumor, and DNA isolation from a peripheral blood sample or any non-tumor tissue. RESULTS: On the basis of specific genomic alterations or absence of presumed findings, WGTS resulted in reclassification of 7% (13/197) of the histopathologic diagnoses. Four cases were downgraded from low-grade sarcomas to benign lesions, and two cases were reclassified as metastatic malignant melanomas. Fusion genes associated with specific tumor entities were found in 30 samples. For malignant soft-tissue and bone tumors, we identified treatment relevant variants in 15% of cases. Germline pathogenic variants associated with a hereditary cancer syndrome were found in 22 participants (11%). CONCLUSIONS: WGTS provides an important dimension of data that aids in the classification of soft-tissue and bone tumors, correcting a significant fraction of clinical diagnoses, and identifies molecular targets relevant for precision medicine. However, genetic findings need to be evaluated in their morphopathologic context, just as germline findings need to be evaluated in the context of patient phenotype and family history.

[Detection of EWSR1 gene rearrangement by fluorescence in situ hybridization in bone and soft tissue tumors: clinical application evaluation and atypical signal analysis].

Objective: To investigate the clinical application of EWSR1 gene rearrangement by fluorescence in situ hybridization (FISH) in bone and soft tissue tumors and to analyze the cases with atypical signal pattern. Methods: The cases detected for EWSR1 gene rearrangement by FISH in Beijing Jishuitan Hospital, Capital Medical University from 2014 to 2021 were collected, and the value of detecting EWSR1 gene rearrangement for diagnosing bone and soft tissue tumors was analyzed. The cases with atypical positive signals were further analyzed by next generation sequencing (NGS). Results: FISH using EWSR1 break-apart probe kit was successfully performed in 97% (205/211) of cases, 6 cases failed. Four of the 6 failures were due to improper decalcification, 1 case due to signal overlap caused by thick slices, and 1 case due to signal amplification and disorder. EWSR1 gene rearrangements were positive in 122 cases (122/205, 59%), atypical positive signal in 8 cases (8/205, 4%), and negative in 75 cases (75/205, 37%). In cases testing positive, the percentage of positive cells ranged from 34% to 98%, with 120 cases (120/122, 98%) showing a positive cell percentage greater than 50%. Among the 205 successfully tested cases, 156 cases were histologically diagnosed as Ewing's sarcoma, of which 110 were positive (110/156, 71%), 7 were atypical positive (7/156, 4%), and 39 were negative (39/156, 25%). Nine cases were histologically diagnosed as clear cell sarcoma of soft tissue, of which 6 were positive (6/9), 1 was atypical positive (1/9), and 2 were negative (2/9). Five cases were histologically diagnosed as extraskeletal myxoid chondrosarcoma, of which 2 were positive (2/5) and 3 were negative (3/5). Three cases were histologically diagnosed as angiomatoid fibrous histiocytoma, of which 2 were positive (2/3) and 1 was negative (1/3). Two cases were histologically diagnosed as myoepithelioma of soft tissue, of which 1 was positive (1/2) and 1 was negative (1/2). One case was histologically diagnosed as olfactory neuroblastoma with a positive result. The 29 other tumor cases including osteosarcoma, synovial sarcoma, and malignant melanoma and others were all negative. Basing on histology as the standard for diagnosis and considering atypical positive cases as negative, comparing with the 29 cases of other tumors as control group, the sensitivity for diagnosing Ewing's sarcoma through the detection of EWSR1 gene rearrangement was 71%, and the specificity was 100%; the sensitivity for diagnosing clear cell sarcoma of soft tissue was 67%, and the specificity was 100%; the sensitivity for diagnosing extraskeletal myxoid chondrosarcoma was 40%, and the specificity was 100%; the sensitivity for diagnosing angiomatoid fibrous histiocytoma was 67%, and the specificity was 100%; the sensitivity for diagnosing myoepithelioma of soft tissue was 50%, and the specificity was 100%; the sensitivity for diagnosing olfactory neuroblastoma was 100%, and the specificity was 100%. Four of 8 cases with atypical positive signals analyzed by NGS showed EWSR1 rearrangement, including EWSR1::FLI1 in one case of Ewing sarcoma, EWSR1::NFATC2 in one case of EWSR1::NFATC2-rearranged sarcoma, EWSR1::ATF1 in one case of clear cell sarcoma of soft tissue and EWSR1::NR4A3 in one case of extraskeletal myxoid chondrosarcoma. Conclusions: Detection of EWSR1 rearrangement by FISH is of utmost significance in the diagnosis of bone and soft tissue tumors. Cases with atypical positive signals should be further scrutinized, correlating with their histomorphology and verifying by NGS if necessary.

Malignant tumour in pregnancy: Ewing-like sarcoma of the gluteal region.

We report a case of an Ewing-like sarcoma of the gluteal region with ongoing growth during the second trimester of pregnancy and noted during the third trimester. This lesion was consequently studied to infer its malignant potential. Several examinations were conducted to characterise this lesion, such as ultrasound and MR, which showed signs of tumourous invasion of the deep tissues of the gluteal region.Given that the pregnancy was at the end of the third trimester, the decision was made to schedule the delivery at 37 weeks of gestation and treat the tumour afterwards to balance maternal and fetal health.This case illustrates the need for a detailed investigation and guidance by a multidisciplinary team to provide prenatal counselling regarding a malignant tumour during pregnancy.

[Detection of MDM2 gene amplification by fluorescence in situ hybridization and its diagnostic value in low-grade osteosarcoma].

Objective: To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Methods: Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor). Results: Among the 30 patients with POS, 15 were male and 15 were female, ranging in age from 10 to 59 years (mean 35 years, median 30.5 years). Among the 14 patients with LGCOS, four were male and 10 were female, ranging in age from 15 to 56 years (mean 37 years, median 36 years). All except one case were successfully detected by FISH. MDM2 gene amplification was detected in 27 cases of POS (27/29,91.3%) and 8 cases of LGCOS (8/14). All the negative controls were negative for MDM2 gene amplification. The positive rate of MDM2 gene amplification was significantly different between the case group and the control group (P<0.05). The sensitivity and specificity of MDM2 gene amplification in diagnosing POS and LGCOS were 91.3% and 100.0%; and 57.1% and 100.0%, respectively. The sensitivity and specificity of MDM2 gene amplification in diagnosing LGOS (including POS and LGCOS) were 81.3% and 100.0%, respectively. In cases where MDM2 gene was amplified, the MDM2 amplified signal was clustered. Nine cases showed increased CEP12 signal different from polyploidy which was displayed as small and weak signal points or cloud flocculent and cluster signals. Conclusions: Detection of MDM2 gene amplification by FISH is a highly sensitive and specific marker for LGOS. The interpretation criteria for FISH detection of MDM2 amplification are currently not unified. The signal characteristics need more attention when interpreting.

Osteoid osteoma presenting with scoliosis: successful resection with endoscopic excision.

A young male in his mid-teen years presented with severe back pain for 3 months and was subsequently diagnosed with osteoid osteoma in the left superior articular process of the L4 vertebra. Initial treatment with non-steroidal anti-inflammatory drugs provided temporary relief. Due to concerns about scoliosis progression along with unrelieved pain, a multidisciplinary team recommended endoscopic excision of the osteoid osteoma. The procedure resulted in complete pain relief and an improvement in the scoliosis curve from 22° of Cobb's angle to 12 degrees at the 8-month follow-up.

Real-world impact of chemotherapy on overall survival in craniomaxillofacial osteosarcoma.

OBJECTIVES: The goal of this study was to identify the survival benefit of chemotherapy in craniomaxillofacial osteosarcoma (CMFO) patients based on a US population. MATERIALS AND METHODS: The Surveillance, Epidemiology, and End Results (SEER) database was used to select patients with CMFO from 1988 to 2016. Age and tumor size were grouped by X-tail. Cox analysis were used to estimate hazards ratios (HR) among patients. All of patients were divided into two cohorts by using Propensity Score Matching (PSM) method to evaluate the effect of chemotherapy. All prognostic factors were included in the nomograms which predict the median survival time. RESULTS: 410 patients were included in our study. The results of survival rate, Kaplan-Meier and Cox regression were showed no significant difference between the group of chemotherapy performed and the group without chemotherapy. PSM analysis also demonstrated the limited survival advantage of chemotherapy. Moreover, all factors were further incorporated to construct the novel nomograms and its concordance indices (C-index) for internal validation of OS prediction were 0.749 (95 %CI:0.731-0.767). CONCLUSIONS: Our study did not show the advantage of chemotherapy on the overall survival outcome of CMFO. Although neoadjuvant chemotherapy was currently recommended in clinical treatment, more rigorous randomized controlled trials are still needed. Nomograms would assist clinicians in making more accurate survival evaluation and choosing the optimal medical treatment.

Enhanced accuracy and reduced delay in diagnosing bone tumors within an expert sarcoma network: A nationwide study.

INTRODUCTION: Primary bone tumors encompass a range of rare and diverse lesions. Pathological diagnosis poses significant challenges, with histological discrepancies extensively studied in soft tissue sarcomas but lacking specific investigation in bone lesions. This study aimed to determine the rate of major diagnostic discrepancies in primary bone tumors, assessing whether initial histological analysis within an expert referral center network reduces this rate and final diagnostic delay. Additionally, we examined the impact of mandatory systematic re-reading by expert pathologists on diagnostic variation and readjustment. METHODS: Our study cohort comprised patients with primary bone tumors, drawn from the national prospective French sarcoma network database. A total of 1075 patients were included from 2018 to 2019. RESULTS: The cohort exhibited a major discrepancy rate of 24%. Within the expert referral centers network, 49 cases (7%) showed major diagnostic discrepancies in the initial analysis, compared to 207 cases (57%) outside the network (p < 0.001). Regarding the final diagnostic delay, a mean of 2.8 weeks (±4.9) was observed within the network, contrasting with 6.5 weeks (±9.1) outside the network (p < 0.001). Systematic re-reading by an expert pathologist facilitated diagnosis readjustment in 75% of the 256 cases, with 68% of all diagnostic variations occurring preoperatively. CONCLUSION: Early management within the expert network significantly reduced major diagnostic discrepancies and shortened the diagnosis delay by approximately a month. Expert pathologist systematic re-readings were responsible for diagnosis readjustments in three-quarters of cases, with two-thirds of all diagnostic variations occurring preoperatively, thereby mitigating the consequences of mistreatment.