Understanding multicentric haemangioendothelioma: diagnostic dilemmas and treatment strategies.

Epithelioid haemangioendothelioma (EH) is a rare malignant vascular tumour occurring mainly in the liver and lungs, with bones being a rare site and primarily seen in the adult population. This case presents a male patient in his 40s who presented to the outpatient department with a chief issue of a painless swelling over the inguinal region for 4 months, gradually increasing in size, along with a history of a gradually enlarging, painless mass on his left knee over the past 5 years. Despite occasional discomfort during physical activities, the mass exhibited no associated trauma, fever, weight loss or systemic symptoms. Physical examination revealed a firm mass on the left knee and a matted lymph nodal swelling in the left inguinal region. Subsequent imaging studies identified multiple soft tissue lesions, osseous involvement and pulmonary metastases, suggestive of multicentric haemangioendothelioma. The patient underwent surgical excision of the inguinal mass and fixation of a pathological fracture in the left femur. He is currently undergoing chemotherapy and is scheduled for regular follow-up appointments. This case underscores the importance of thorough diagnostic evaluation and multidisciplinary management in complex oncological conditions like multicentric haemangioendothelioma.

Intra-abdominal telangiectatic osteosarcoma: a case report.

BACKGROUND: Telangiectatic osteosarcoma is rare and it rarely affects flat bones, especially the bones of the pelvis. It is uncommon for telangiectatic osteosarcoma to be considered as a differential diagnosis when assessing a large intrabdominal mass. CASE REPORT: We present our case of a 33-year-old African female who presented with a sizeable telangiectatic osteosarcoma of the left iliac bone. She reported a 3-year duration of a painless, slow-growing mass arising from the left flank. At examination, a large bony hard mass extending from the left ilium to the umbilicus was noted, almost mimicking an intra-abdominal pregnancy. All laboratory tests were within normal limits and an unconventional surgical approach was used for a one-stage excision of the tumor without complications. The definitive histopathological diagnosis postexcision was that of a telangiectatic osteosarcoma only on the second review of the histological specimen. CONCLUSIONS: Pelvic telangiectatic osteosarcoma is rare, and the ilium is the commonly affected pelvic bone. These tumors can be sizeable at presentation with intra-abdominal or pelvic extension with a high chance of misdiagnosis. Fortunately surrounding soft tissue involvement seems to be a rare and late finding when present.

Distribution Patterns of Benign and Malignant Bone and Soft Tissue Tumors and Tumor-like lesions in the Hindfoot and Ankle: A 12.5-year Analysis.

BACKGROUND/AIM: Benign and tumor-like lesions of the hindfoot and ankle are common, whereas malignant entities are rare. Accurate evaluation and timely management of these lesions can be challenging, making it crucial to understand their incidence and anatomic localization. This study retrospectively analyzed the distribution of benign and malignant bone and soft tissue tumors in the hindfoot and ankle. PATIENTS AND METHODS: This study included patient data from a single center, such as age, sex, histologic diagnosis, and anatomic location over a 12.5 year period. RESULTS: Of the 105 cases reviewed, 19 cases (18.1%) were osseous lesions and 86 cases (81.9%) were soft tissue lesions. The latter were divided into 77 benign and 9 malignant cases, resulting in an overall malignancy rate of 8.6%. The most common osseous lesion was the intraosseous ganglion (n=12). The majority of benign soft tissue lesions (75.3%) were located in the hindfoot, with TGCT, schwannoma, and ganglion cysts being the most common types. The nine malignant cases were distributed among seven entities and were evenly distributed among both regions and sexes. Malignant cases had a higher mean age (59.2 years) compared to benign cases (40.8 years; p=0.001). CONCLUSION: Tumors, tumor-like lesions, and pseudotumors represent an important aspect of ankle pathology. The majority of focal masses and swellings are benign soft tissue or osseous lesions, but malignant entities can occur and may be mistaken for benign conditions. Preoperative imaging and histopathologic examination are essential, and preoperative presentation to a multidisciplinary tumor board is recommended in unclear cases.

Development and experimental validation of hypoxia-related gene signatures for osteosarcoma diagnosis and prognosis based on WGCNA and machine learning.

Osteosarcoma (OS) is the most common primary malignant tumour of the bone with high mortality. Here, we comprehensively analysed the hypoxia signalling in OS and further constructed novel hypoxia-related gene signatures for OS prediction and prognosis. This study employed Gene Set Enrichment Analysis (GSEA), Weighted correlation network analysis (WGCNA) and Least absolute shrinkage and selection operator (LASSO) analyses to identify Stanniocalcin 2 (STC2) and Transmembrane Protein 45A (TMEM45A) as the diagnostic biomarkers, which further assessed by Receiver Operating Characteristic (ROC), decision curve analysis (DCA), and calibration curves in training and test dataset. Univariate and multivariate Cox regression analyses were used to construct the prognostic model. STC2 and metastasis were devised to forge the OS risk model. The nomogram, risk score, Kaplan Meier plot, ROC, DCA, and calibration curves results certified the excellent performance of the prognostic model. The expression level of STC2 and TMEM45A was validated in external datasets and cell lines. In immune cell infiltration analysis, cancer-associated fibroblasts (CAFs) were significantly higher in the low-risk group. And the immune infiltration of CAFs was negatively associated with the expression of STC2 (P < 0.05). Pan-cancer analysis revealed that the expression level of STC2 was significantly higher in Esophageal carcinoma (ESCA), Head and Neck squamous cell carcinoma (HNSC), Kidney renal clear cell carcinoma (KIRC), Lung squamous cell carcinoma (LUSC), and Stomach adenocarcinoma (STAD). Additionally, the higher expression of STC2 was associated with the poor outcome in those cancers. In summary, this study identified STC2 and TMEM45A as novel markers for the diagnosis and prognosis of osteosarcoma, and STC2 was shown to correlate with immune infiltration of CAFs negatively.

Rib myelolipoma: a case report.

BACKGROUND: Myelolipoma is an uncommon benign tumor composed of mature adipose tissue and hematopoietic elements. These tumors generally affect the adrenal glands, with anomalous presentations being rare and with few cases described in the literature. Most myelolipomas are asymptomatic and discovered incidentally, either through imaging tests or at autopsies. However, depending on the location and size of the lesion, myelolipomas can cause symptoms of mass effect. This article aims to report a very rare presentation of a symptomatic primary myelolipoma affecting the ribs. CASE PRESENTATION: A 21-year-old white female patient presented with a complaint of burning chest pain over 3 months, with gradual worsening in intensity, accompanied by a progressively growing bulge in the right thoracic wall. The patient underwent thoracotomy of the fifth and sixth ribs with complete excision of the lesion with a safety margin. Thoracic wall reconstruction was performed using a polypropylene mesh. The patient had a good postoperative course and was discharged on postoperative day 3. Histopathological examination revealed a histological image consistent with myelolipoma. CONCLUSIONS: This report underscores the importance of considering a myelolipoma diagnosis for tumor masses in the ribs.

LncRNAs as potential prognosis/diagnosis markers and factors driving drug resistance of osteosarcoma, a review.

Osteosarcoma is a common malignancy that often occurs in children, teenagers and young adults. Although the treatment strategy has improved, the results are still poor for most patients with metastatic or recurrent osteosarcomas. Therefore, it is necessary to identify new and effective prognostic biomarkers and therapeutic targets for diseases. Human genomes contain lncRNAs, transcripts with limited or insufficient capacity to encode proteins. They have been implicated in tumorigenesis, particularly regarding the onset, advancement, resistance to treatment, recurrence and remote dissemination of malignancies. Aberrant lncRNA expression in osteosarcomas has been reported by numerous researchers; lncRNAs have the potential to exhibit either oncogenic or tumor-suppressing behaviors and thus, to govern the advancement of this skeletal cancer. They are suspected to influence osteosarcoma cell growth, replication, invasion, migration, remote dissemination and programmed cell death. Additionally, they have been recognized as clinical markers, and may participate in the development of multidrug resistance. Therefore, the study of lncRNAs in the growth, metastasis, treatment and prognosis of osteosarcoma is very important for the active prevention and treatment of osteosarcoma. Consequently, this work reviews the functions of lncRNAs.

Presentation, treatment, and outcomes of chondrosarcoma in young adult patients less than age 50: A case series of ten patients.

ABSTRACT: Chondrosarcoma is an aggressive bone tumor typically affecting older adults in the 6th and 7th decade. These tumors often present as painful masses in the pelvis, ribs, and long bones and have certain characteristic features on the imaging leading to the diagnosis. The occurrence of these tumors in the young adult population is a rare condition that is not well described. Often, they may be confused with benign counterparts, enchondroma or osteochondroma, which does not require any treatment and are very common. The aim of this case series was to analyze the patient presentation and radiographic image findings as well as surgical treatment and outcomes of ten young adults with chondrosarcoma over a three-year period. Overall, imaging of these tumors in young adults did not necessarily demonstrate all typical features of chondrosarcomas such as endosteal scalloping, calcifications, lobular growth, and high uptake on whole-body bone scans. One patient in the case series passed away from complications from dedifferentiated chondrosarcoma, and nine patients have recovered with no local recurrence.

Leiomyosarcoma of the bone: Unveiling the mystery of a spindly ossein.

ABSTRACT: Leiomyosarcoma (LMS) represents one of the most common soft tissue sarcomas, involving various anatomical sites like the retroperitoneum, genitourinary tract, and extremities. LMS of the bone is extremely rare, with a 0.7% incidence of all primary malignant bone tumors. They are histologically identical to the leiomyosarcomas of other sites but pose a diagnostic dilemma due to their rarity and varied presentation when it manifests as a bony lesion.

The diagnostic and prognostic value of tartrate-resistant acid phosphatase isoform 5b for giant cell tumor of bone.

BACKGROUND: Serum level of tartrate-resistant acid phosphatase 5b (TRACP5b) is an excellent serum marker of bone resorption. In patients with giant cell tumor of bone (GCTB), TRACP5b levels are reportedly elevated. This study investigated whether TRACP5b could be a diagnostic serum marker and be useful for detecting postoperative disease progression for GCTB. METHODS: Cohort 1: We abstracted data from 120 patients with TRACP5b measurements from our database: 49 patients with GCTB and 71 patients non-GCTB. We compared serum TRACP5b values between the GCTB and non-GCTB groups. Cohort 2 included 47 patients with GCTB who had more than 6 months of follow-up and multiple TRACP5b values. For patients with local recurrence, TRACP5b change rate was calculated by comparing the TRACP5b value just before progression (a) with the value at the time of progression (b): Change rate = [(b)-(a)]/(a). In the non-progression group, the change rate was calculated from the two consecutive TRACP5b values, (c) and (d): Change rate =[(c)-(d)]/(c). We compared TRACP5b change rates between the progression and non-progression groups. RESULTS: Cohort 1: The GCTB group had a significantly higher mean TRACP5b value (1756 ± 2021 mU/dL) than the non-GCTB group (415 ± 219 mU/dL) (p < 0.0001). Cohort 2: The mean TRACP5b change rate of the progression group was significantly higher than the non-progression group (8.53 ± 8.52 and 0.24 ± 0.27, respectively; p < 0.0001). CONCLUSION: TRACP5b is a useful diagnostic marker in GCTB. The rate of change in serum TRACP5b values is a highly sensitive marker for predicting local recurrence in GCTB.

Intramuscular mesenchymal chondrosarcoma surrounded by a split fat sign mimicking a benign lesion.

Mesenchymal chondrosarcoma (MCS) is an aggressive malignant mesenchymal tumour of uncertain differentiation. This is rare, accounting for 2%-4% of chondrosarcomas. Its peak incidence is in the second and third decades, though it can occur at any age. These tumours show a widespread distribution, mainly in bone, but with approximately 40% affecting somatic soft tissue. We present a case of MCS arising within the soleus muscle. The lesion was surrounded by a split-fat sign/fatty rind which is a typical feature of peripheral nerve sheath tumours or other benign intramuscular tumours. However, percutaneous biopsy showed MCS. We highlight how perilesional fat is not exclusive to benign intramuscular lesions and, although much less common, can be associated with malignant lesions. This is, to the best of our knowledge, the first reported case of MCS presenting with a split-fat sign at MRI.

Oral microbiota distinguishes patients with osteosarcoma from healthy controls.

Objective: The human microbiota plays a key role in cancer diagnosis, pathogenesis, and treatment. However, osteosarcoma-associated oral microbiota alterations have not yet been unraveled. The aim of this study was to explore the characteristics of oral microbiota in osteosarcoma patients compared to healthy controls, and to identify potential microbiota as a diagnostic tool for osteosarcoma. Methods: The oral microbiota was analyzed in osteosarcoma patients (n = 45) and matched healthy controls (n = 90) using 16S rRNA MiSeq sequencing technology. Results: The microbial richness and diversity of the tongue coat were increased in osteosarcoma patients as estimated by the abundance-based coverage estimator indices, the Chao, and observed operational taxonomy units (OTUs). Principal component analysis delineated that the oral microbial community was significant differences between osteosarcoma patients and healthy controls. 14 genera including Rothia, Halomonas, Rhodococcus, and Granulicatella were remarkably reduced, whereas Alloprevotella, Prevotella, Selenomonas, and Campylobacter were enriched in osteosarcoma. Eventually, the optimal four OTUs were identified to construct a microbial classifier by the random forest model via a fivefold cross-validation, which achieved an area under the curve of 99.44% in the training group (30 osteosarcoma patients versus 60 healthy controls) and 87.33% in the test group (15 osteosarcoma patients versus 30 healthy controls), respectively. Notably, oral microbial markers validated strong diagnostic potential distinguishing osteosarcoma patients from healthy controls. Conclusion: This study comprehensively characterizes the oral microbiota in osteosarcoma and reveals the potential efficacy of oral microbiota-targeted biomarkers as a noninvasive biological diagnostic tool for osteosarcoma.

Nanopore DNA Sequencing Detected Chromothripsis-Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma.

An aneurysmal bone cyst (ABC) is a benign bone neoplasm that typically occurs during the first and second decades of life. ABC usually presents as a rapidly growing intramedullary expansile mass with multiple blood-filled cysts in the metaphysis of the long tubular bones. Here, we report a case of a periosteal solid ABC that was initially diagnosed as a high-grade surface osteosarcoma. A 10-year-old male was referred to our hospital for swelling and tenderness of the left upper arm. Radiography revealed periosteal mass without fluid-fluid levels. On performing open biopsy, the tumor showed hypercellular proliferation of uniform spindle to epithelioid cells with brisk mitotic activity (up to 12/2 mm2) and lace-like osteoid formation, which was diagnosed as a high-grade surface osteosarcoma. After one course of chemotherapy using adriamycin and cisplatin, peripheral sclerosis was conspicuous, which led to pathological review and revision of diagnosis as "possibly osteoblastoma." The patient was disease-free for 4 years after marginal resection and curettage. Retrospective nanopore DNA sequencing unexpectedly detected a PAFAH1B1::USP6 rearrangement. The fusion gene was further validated using reverse transcription-polymerase chain reaction and the diagnosis was revised to ABC. Chromothripsis involving chromosome 17 has also been identified. Methylation analysis classified the present tumor as an ABC or non-ossifying fibroma using t-distributed stochastic neighbor embedding and unsupervised hierarchical clustering. This case report highlights the utility of nanopore DNA sequencing for soft tissue and bone tumor diagnosis.

The prediagnostic general practitioner care of sarcoma patients: A real-world data study.

BACKGROUND: Limited understanding exists regarding early sarcoma symptoms presented during general practitioner (GP) consultations. The study explores GP visit patterns and recorded diagnoses in the 12 months preceding sarcoma diagnosis. METHODS: Sarcoma cases diagnosed from 2010 to 2020 were identified through the Netherlands Cancer Registry alongside general practice data. Sarcoma cases were age and gender matched to cancer-free controls (2:1 or 1:1 ratio). RESULTS: A total of 787 individuals with soft-tissue sarcoma (STS) and 188 individuals with bone sarcoma (BS) were identified. There was a significant difference in monthly GP contacts from 4 months to the last month before STS diagnosis, and 2 months before BS diagnosis between cases and controls. Most prevalent diagnoses recorded by the GP for STS cases included musculoskeletal neoplasm (26.6%), uncomplicated hypertension (15.6%), and cystitis/other urinary infections (12.2%). For BS cases, musculoskeletal neoplasm (42.8%), knee symptoms/complaints (9.7%), and shoulder symptoms/complaints (9.7%) were most frequent. CONCLUSIONS AND DISCUSSION: A significant difference in GP contacts between cases and controls preceding sarcoma diagnosis. STS cases were predominantly diagnosed with nonspecific symptoms, whereas BS cases with diagnoses more suggestive of BS. Better understanding of the prediagnostic trajectory could aid GPs in early identification of sarcoma.

[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.

Pathogenetic and molecular classifications of soft tissue and bone tumors: A 2024 update.

Soft tissue and bone tumors comprise a wide category of neoplasms. Their diversity frequently raises diagnostic challenges, and therapeutic options are continuously developing. The therapeutic success rate and long-term prognosis of patients have improved substantially due to new advances in immunohistochemical and molecular biology techniques. A fundamental contribution to these achievements has been the study of the tumor microenvironment and the reclassification of new entities with the updating of the molecular pathogenesis in the revised 5th edition of the Classification of Soft Tissue Tumors, edited by the World Health Organization. The proposed molecular diagnostic techniques include the well-known in situ hybridization and polymerase chain reaction methods, but new techniques such as copy-number arrays, multiplex probes, single-nucleotide polymorphism, and sequencing are also proposed. This review aims to synthesize the most recent pathogenetic and molecular classifications of soft tissue and bone tumors, considering the major impact of these diagnostic tools, which are becoming indispensable in clinicopathological practice.

A Rare Case of Renal Sarcoma Mimicking Metastatic Osteosarcoma.

Pediatric renal sarcomas are exceedingly rare entities that present diagnostic challenges. We report a remarkable case of a 14-month-old female with an 8 cm right renal mass, accompanied by disseminated bone metastases, posing intricate clinical and histopathological dilemmas. Initial suspicion leaned towards clear cell sarcoma of the kidney (CCSK), however, subsequent histological examination post-chemotherapy revealed high-grade osteosarcoma and further differential considerations arose, including primary renal osteosarcoma and osseous osteosarcoma with secondary renal involvement. Despite inconclusive histology, treatment proceeded with the UH1 chemotherapy protocol for CCSK, incorporating high-dose Methotrexate for potential osteosarcoma, and the patient demonstrated a favorable response to therapy.

[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.

Histological diagnostic discrepancy and its clinical impact in bone and soft tissue tumors referred to a sarcoma center.

Histological diagnosis of sarcomas (malignant bone and soft tissue tumors) is challenging due to their rarity, morphological diversity, and constantly evolving diagnostic criteria. In this study, we aimed to assess the concordance in histological diagnosis of bone and soft tissue tumors between referring hospitals and a tertiary sarcoma center and analyzed the clinical impact of the diagnostic alteration. We analyzed 628 consecutively accessioned specimens from 624 patients who visited a specialized sarcoma center for treatment. The diagnoses at referring hospitals and those at the sarcoma center were compared and classified into four categories: agreed, disagreed, specified, and de-specified. Of the 628 specimens, the diagnoses agreed in 403 (64.2%) specimens, whereas some changes were made in 225 (35.8%) specimens: disagreed in 153 (24.3%), specified in 52 (8.3%), and de-specified in 20 (3.2%) cases. The benign/intermediate/malignant judgment changed for 92 cases (14.6%). The diagnostic change resulted in patient management modification in 91 cases (14.5%), including surgical and medical treatment changes. The main inferred reason for the diagnostic discrepancies was a different interpretation of morphological findings of the tumor, which accounted for 48.9% of the cases. This was followed by the unavailability of specialized immunohistochemical antibodies and the unavailability of genetic analysis. In summary, our study clarified the actual clinical impact of diagnostic discrepancy in bone and soft tissue tumors. This may underscore the value of pathology consultation, facilitating access to specialized diagnostic tools, and continued education. These measures are expected to improve diagnostic precision and ultimately benefit patients.