Search Results (61)

Intraosseous hibernoma (IOH) is a rare benign tumor composed of brown adipose tissue within the bone, frequently mimicking metastatic lesions and leading to diagnostic challenges. This systematic review aimed to consolidate and analyze all published IOH cases to improve recognition and inform management. A comprehensive literature search was conducted in PubMed, Web of Science, Scopus, Google Scholar, and the Cochrane Library from database inception to March 2025. Studies were eligible for inclusion if they reported histopathologically confirmed cases of intraosseous hibernoma (IOH) in human patients. A total of 62 cases from 30 studies were included. The mean age was 59.2 years, with a female predominance. Lesions were most frequently located in the pelvis and spine and were typically identified incidentally during cancer staging or imaging performed for unrelated indications. Imaging often revealed sclerotic patterns on computed tomography (CT), hyperintense signals on magnetic resonance imaging (MRI) T2-weighted and short tau inversion recovery (STIR) sequences, and mild to moderate uptake on ¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography (¹⁸F-FDG PET/CT). Immunohistochemistry consistently showed S100 protein positivity. Most patients underwent biopsy and were managed conservatively, with no cases of malignant transformation reported. IOH is a benign entity with distinctive radiologic and immunohistochemical features that may mimic malignancy. Awareness of its presentation can reduce misdiagnosis and unnecessary interventions, supporting biopsy-based confirmation and conservative management in most cases. Full article

Background: Spinal metastasis is the third most common site for metastatic localization, following the lung and liver. Manual detection through imaging modalities such as CT, MRI, PET, and bone scintigraphy can be costly and inefficient. Preliminary artificial intelligence (AI) techniques and computer-aided detection (CAD) systems have attempted to improve lesion detection, segmentation, and treatment response in oncological imaging. The objective of this review is to evaluate the current applications of AI across multimodal imaging techniques in the diagnosis of spinal metastasis. Methods: Databases like PubMed, Scopus, Web of Science Advance, Cochrane, and Embase (Ovid) were searched using specific keywords like ‘spine metastases’, ‘artificial intelligence’, ‘machine learning’, ‘deep learning’, and ‘diagnosis’. The screening of studies adhered to the PRISMA guidelines. Relevant variables were extracted from each of the included articles such as the primary tumor type, cohort size, and prediction model performance metrics: area under the receiver operating curve (AUC), accuracy, sensitivity, specificity, internal validation and external validation. A random-effects meta-analysis model was used to account for variability between the studies. Quality assessment was performed using the PROBAST tool. Results: This review included 39 studies published between 2007 and 2024, encompassing a total of 6267 patients. The three most common primary tumors were lung cancer (56.4%), breast cancer (51.3%), and prostate cancer (41.0%). Four studies reported AUC values for model training, 16 for internal validation, and five for external validation. The weighted average AUCs were 0.971 (training), 0.947 (internal validation), and 0.819 (external validation). The risk of bias was the highest in the analysis domain, with 22 studies (56%) rated high risk, primarily due to inadequate external validation and overfitting. Conclusions: AI-based approaches show promise for enhancing the detection, segmentation, and characterization of spinal metastatic lesions across multiple imaging modalities. Future research should focus on developing more generalizable models through larger and more diverse training datasets, integrating clinical and imaging data, and conducting prospective validation studies to demonstrate meaningful clinical impact. Full article

In this article, we present a case of a 49-year-old woman presenting with a recurrent metastatic neuroendocrine tumor. Background: Insulinomas are neuroendocrine tumors derived from beta cells of the pancreas that secrete insulin. Usually, they are benign tumors; however, metastatic insulinomas are an extremely rare malignant form of these tumors, carrying a significantly worse prognosis. Case Presentation: A 49-year-old woman, a patient in the University Hospital in Wroclaw in the Department of Endocrinology, Diabetes and Isotope Therapy, first presented with abdominal pain in 2009, when ultrasound and further examination led to the diagnosis of a tumor in the pancreas (a solid pseudopapillary tumor of the pancreas—meta NET G2), and the patient underwent distal pancreatectomy with splenectomy. For ten years, she was under observation, and her symptoms, such as abdominal pain, nausea, weight loss, and general weakness, reappeared in 2019. Then, magnetic resonance imaging (MRI) showed a lesion in the liver, and further histopathology revealed neuroendocrine tumor (NET) metastasis to the liver. In 2022, the patient presented with loss of consciousness and convulsion, loss of weight, and hypoglycemia after meals. In April 2022, the daily glycemic profile was recorded and a 72 h fasting test was performed; however, their results excluded insulinoma. Positron emission tomography–computed tomography (PET-CT) with 18F-fluorodeoxyglucose (18F-FDG) and PET with gallium-68-DOTA-(Tyr3)-octreotate (68Ga-DOTA-TATE) showed a metastatic proliferative process in the liver. Persistent hypoglycemia led to another hospitalization in May 2022, and repeated tests allowed for the diagnosis of insulinoma. Treatment with somatostatin analogs and diazoxide was started. A CT scan in November 2022 and a PET scan in January 2023 showed new metastases to the liver, bones, and cervical lymph nodes, and it was decided to intensify the treatment. In May 2023, the patient was qualified for Lutathera treatment for insulinoma at the University Clinical Hospital in Poznań. In June 2023, another disturbing symptom was reported by the patient, a painful lump in the breast. During diagnostics, metastases with high proliferation markers were found in both breasts. Two months later, in August 2023, the patient received another dose of Lutathera. In October 2023, significant progression of liver lesions, metastases to bones of the spine, ribs, and pelvis, and periaortic and pelvic lymphadenopathy were found as well as elevated values of neuron-specific enolase and calcitonin. The patient was also referred to the Palliative Medicine Home Hospice. In consultation with the Lower Silesian Cancer Center, the decision was made to forgo further treatment with PRRT and initiate systemic chemotherapy. Despite the chosen treatment, the patient died on 27/DEC/2023. Conclusions: This case report can serve clinicians, as it presents a case of an extremely rare and insidious tumor, metastatic insulinoma. Full article

Background/Objectives: Pneumatocysts, characterized by gas-filled cavities, are commonly found in the spine and pelvis but are rarely observed in the scapula. In this report, we describe two rare cases of scapular pneumatocysts mimicking bone tumors and exhibiting different image findings. Case Report: Case 1. A 47-year-old man who presented with neck pain underwent radiography, followed by magnetic resonance imaging (MRI). MRI showed heterogeneity with low and high signals on fat-suppressed T2-weighted images, suggestive of enchondroma or fibrous dysplasia (FD). However, preoperative computed tomography (CT) revealed gas-filled cavities within the tumor, in continuity with the shoulder joint, confirming the diagnosis of a pneumatocyst. Case 2. A 58-year-old woman who presented with neck pain underwent similar examinations to Case 1. MRI showed homogeneity with high signals on fat-suppressed T2-weighted images, leading to a suspicion of solitary bone cysts and FD. Preoperative CT revealed gas-filled cavities within the tumor, but no continuity with the joint, leading to the diagnosis of a pneumatocyst. While the exact etiology of pneumatocysts remains unclear, two potential causes are as follows: (i) gas migration from the joint to the bone, and (ii) gas replacement in cystic tumors. Thus, CT is particularly valuable in confirming the presence of gas-filled cavities and aiding in diagnosis. Conclusions: This report highlights two extremely rare cases of scapular pneumatocysts, reflecting two potential etiologies. The utility of CT in the diagnosis of pneumatocyst has been clarified. Full article

Sarcoidosis is a rare multisystem inflammatory disease characterized by non-necrotizing granulomas, typically affecting the lungs, lymph nodes, skin, and bones. Due to its extreme clinical heterogeneity, diagnosis remains challenging. Within the skeletal system, the thoracic spine, ankles, and knees are the most commonly involved joints. We report a rare case of non-articular osseous sarcoidosis with progressive pulmonary lesions and persistently normal inflammatory biomarkers (ACE, CRP, ESR, IL-2, and TNF-α) that required differentiation from metastatic bone tumors and tuberculosis. Prior to presentation at our hospital, the patient did not respond to six months of anti-tuberculosis treatment and one month of systemic glucocorticoid therapy in three other hospitals. Based on lung and bone biopsies, she was finally diagnosed as having active sarcoidosis in our hospital. Despite 3 months of prednisone, pulmonary consolidation and bone lesions persisted until methotrexate was added. This case highlights the preference of combined glucocorticoid and methotrexate therapy for sarcoidosis with atypical osseous involvement and normal biomarkers, underscoring the urgent need for novel diagnostic tools to mitigate misdiagnosis. Full article

Background/Objectives: Chordomas are rare primary osseous tumors of the spine and skull base that may portend significant morbidity and mortality. Gender disparities in the management and outcomes of spinal and pelvic chordomas have been sparsely studied. This study aimed to examine the effect of gender on the treatment utilization and outcomes in patients with vertebral column and sacrum/pelvis chordomas. Methods: A retrospective cohort study was performed using the 2000 to 2020 Surveillance, Epidemiology, and End Results (SEER) Registry, a U.S. population-based cancer registry database. Patients with histologically confirmed chordoma of the vertebral column or the sacrum/pelvis were identified using ICD-O-3 codes. The study population was divided into gender-based cohorts: male and female. The patient demographics, tumor characteristics, treatment variables, and mortality were assessed. Results: A total of 791 patients were identified and stratified by gender: 485 (61.3%) male and 306 (38.7%) female. The mean tumor size was similar between the cohorts (p = 0.377), as was the tumor location, with most arising from the pelvic bones/sacrum/coccyx (p = 0.953). While the treatment characteristics did not significantly vary, among patients who received both radiotherapy and surgery, neo-adjuvant radiotherapy was utilized at higher frequencies in the male patients (p = 0.011). For vertebral column chordomas, the median (p = 0.230) and five-year survival (p = 0.220) was similar between cohorts, and gender was not a predictor of survival (p = 0.239). Similarly, for pelvic chordomas, the median (p = 0.820) and five-year survival (p = 0.820) was similar between cohorts, and gender was not associated with survival (p = 0.816). Conclusions: Our study suggests that gender may influence treatment utilization but not mortality in patients with chordomas of the spine and sacrum. Full article

Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library. This review includes 48 case reports, original studies, and reviews on NF1 in pregnancy. The research on the interlink between NF1 and fertility and its influence on human-assisted reproduction techniques is limited. Preimplantation testing (by in vitro fertilization) and prenatal diagnosis (by chorionic villus sampling or amniocentesis) are available to detect affected fetuses. However, genotype–phenotype correlation is difficult to predict. Preconceptional planning and targeted investigations are crucial in understanding the extent of maternal disease. Although in some cases lesions can evolve rapidly during pregnancy, most pregnancies and births in NF1 go well with careful planning. There is a higher incidence of pheochromocytomas and pre-eclampsia, vascular rupture, and cardio-respiratory issues. Anesthesia at birth is a challenge in most cases, and before offering spinal anesthesia, imaging tests should be performed to characterize spinal lesions. General anesthesia may also be challenging when the disease affects the face, neck, upper spine, or airways. Birth-related difficulties may arise because of large neurofibromas located at the level of skin incision or birth canal; uterine atony may be expected if there are uterine lesions. Some complications can develop in postpartum, and affected women should be carefully followed even after pregnancy. Fetal risks include preterm birth (spontaneous or iatrogenic), growth restriction and developmental issues, birth complications, cardiovascular risk, and fetal/neonatal demise. Pregnancies in women with NF1 should be regarded as high-risk and followed in a multidisciplinary fashion. Careful assessment of lesions is of utmost importance before and during pregnancy for anticipating potential maternal risks and before birth to plan anesthesia and delivery. Full article

Background/Objectives: EnBloc resections of bone tumors of the spine are very demanding as the target to achieve a tumor-free margin specimen (sometimes impossible due to the extracompartimental tumor extension) is sometimes conflicting with the integrity of neurological functions and spine stability. Methods: The surgical treatment of a huge multi-level chordoma of the thoracic spine with unusual extension is reported. Anteriorly, the tumor widely invaded the mediastinum and displaced the aorta; on the left side, it expanded in the subpleuric region; posteriorly, it was uncommonly distant 13 mm from the posterior wall. Results: EnBloc resection is largely performed for primary bone tumors of the spine and many reports have been published concerning brilliant solutions to difficult issues of surgical anatomy. One of the major challenges is still the compatibility between oncological and functional requirements. Conclusions: Oncological staging, careful imaging analysis, a multidisciplinary surgical team, and utilization of the most recent technologies like navigation and robotics have made an oncologically appropriate EnBloc resection of a multi-level chordoma of the thoracic spine possible without affecting the continuity of the spinal canal and without any involvement of its content by an original “L”-shaped osteotomy. Full article

Background: The aim of this study was to compare the technique of navigation-assisted biopsy based on fused PET and MRI datasets to CT-guided biopsies in terms of the duration of the procedure, radiation dose, complication rate, and accuracy of the biopsy, particularly in anatomically complex regions. Methods: Between 2019 and 2022, retrospectively collected data included all navigated biopsies and CT-guided biopsies of suspected primary bone tumors or solitary metastases. Navigation was based on preoperative CT, PET-CT/-MRI, and MRI datasets, and tumor biopsies were performed using intraoperative 3D imaging combined with a navigation system. Results: A total of 22 navigated (main group: m/f = 10/12, mean age: 56 yrs.) and 57 CT-guided biopsies (reference group: m/f = 36/21, mean age: 63 yrs.) were performed. Patients were grouped according to anatomic sites (pelvis, spine, extremities, thorax). The duration of the procedure in the reference group was significantly shorter than in the main group, particularly in the spine. The effective radiation dose was in the same range in both groups (main/reference group: 0.579 mSv and 0.687 mSv, respectively). In the reference group, a re-biopsy had to be performed in nine patients (diagnostic yield: 84%). A total of four major and three minor complications occurred in the reference group. Conclusions: Navigation-assisted percutaneous tumor biopsy resulted in correct, histologically useable diagnoses in all patients and reached a higher accuracy and first-time success rate (diagnostic yield: 100%) in comparison to CT-guided biopsies. The fusion of PET, CT, and MRI datasets enables us to combine anatomical with metabolic information. Consequently, target selection was improved, and the rate of false negative/low-grade sampling errors was decreased. Radiation exposure could be kept at a comparable level, and the durations of both procedures were comparable to conventional methods. Full article

Background: Giant cell tumor of bone (GCTB) is a locally aggressive tumor. It accounts for only 5% of all bony tumors. Early diagnosis, and follow-up for recurrence is often difficult due to a lack of biogenetic markers. Giant cells are multinucleated epithelioid cells derived from macrophages. Histologically, giant cells are also present in other pathologies of bone, e.g., aneurysmal bone cyst, chondroblastoma, giant cell granuloma, and malignant giant cell tumor, etc. Similarly, radiographic findings overlap with other osteolytic lesions, making the diagnosis and prognosis of giant cell tumor very challenging. Aims and Objectives: The purpose of this study was to explore biological and genetic markers which can be used for detection, differentiation, recurrence, and prognosis of GCTB. This will help to better understand the clinical outcome of GCTB and minimize the need for interventions. Methods: We conducted a literature search using Google, Google Scholar, PubMed, Wiley Library, Medline, Clinical trials.org, and Web of Science. Our search strategy included MeSH terms and key words for giant cell tumor and biogenetic markers from date of inception to September 2020. After excluding review articles, 246 duplicates, and non-relevant articles, we included 24 articles out of 1568 articles, summarizing the role of biogenetic markers in the prognosis of GCT. Results: P63 is 98.6% sensitive and relatively specific for GCT as compared to other multinucleated giant cells containing neoplasms. MDM2 (mouse double minute 2 homolog), IGF1 (insulin-like growth factor 1), STAT1 (signal transducer and activator of transcription 1), and RAC1 (Ras-related C3 botulinum toxin substrate 1) are associated with GCTB recurrence, and might serve as biomarkers for it. Increased expression of the proteins STAT5B, GRB2, and OXSR1 was related to a higher probability of metastasis. H3F3A and H3F3B mutation analysis appears to be a highly specific, although less sensitive, diagnostic tool for the distinction of giant cell tumor of bone (GCTB) and chondroblastoma from other giant cell-containing tumors. A neutrophil to lymphocyte ratio (NLR) > 2.70, platelet to lymphocyte ratio (PLR) > 215.80, lymphocyte to monocyte ratio (LMR) ≤ 2.80, and albumin to globulin ratio (AGR) < 1.50 were significantly associated with decreased disease-free survival (DFS) (p < 0.05). Large amounts of osteoclast-related mRNA (cathepsin K, tartrate-resistant acid phosphatase, and matrix metalloproteinase9) in GCTs (p < 0.05) are associated with the grade of bone resorption. We propose that subarticular primary malignant bone sarcomas with H3.3 mutations represent true malignant GCTB, even in the absence of a benign GCTB component. IMP3 and IGF2 might be potential biomarkers for GCT of the spine in regulating the angiogenesis of giant cell tumor of bone and predicting patients’ prognosis. Conclusions: This review study shows serological markers, genetic factors, cell membrane receptor markers, predictive markers for malignancy, and prognostic protein markers which are highly sensitive for GCT and relatively specific for giant cell tumor. MDM2, IGF1, STAT1, RAC1 are important makers in determining recurrence, while P63 and H3F3A differentiate GCT from other giant cell-containing tumors. STAT5B, GRB2, and OXSR1 are significant in determining the prognosis of GCT. Apart from using radiological and histological parameters, we can add them to tumor work-up for definitive diagnosis and prognosis. Full article

Objective: This systematic review consolidates the literature on primary extradural meningiomas (PEMs), a rare subset of meningiomas. We describe the clinical features, management strategies used, and treatment outcomes for published cases. Methods: A systematic review was conducted using PRISMA guidelines across multiple databases to 29 July 2024. Inclusion criteria were adult patients with primarily extradural meningioma and where individual patient clinical data were provided. Results: Of 216 studies that met the initial search criteria, 41 satisfied the final inclusion criteria. These 41 studies included 82 patients with 84 total PEMs. The cohort was balanced between sexes with a median age of 46 (range 18–82). Frequent symptoms at initial presentation included pain/headache (46%), weakness (44%), paresthesias (24%), and a palpable superficial mass (23%). The median duration of symptoms to diagnosis was 11 months (range 0.75–120). Surgical resection was the primary treatment approach, achieving a gross total resection in 67% of cases. The majority of lesions were classified as WHO grade 1 (87%). A recurrence was identified during the published follow-up in 11% of cases and a higher WHO grade was expectedly associated with a greater risk of recurrence. The described practice was to use adjuvant radiotherapy in recurrent and high-grade cases. Most cranial lesions were located in the frontal bone, while most spinal lesions affected the cervical spine. Post-treatment symptom improvement or resolution was described in almost all patients at the last follow-up. Conclusions: In comparison to intradural meningiomas, PEMs largely follow a more indolent course with a longer duration of symptoms prior to diagnosis, more benign symptoms, a higher proportion of grade 1 tumors, and favorable outcomes; however, there is a small subset of PEMs with extension outside the cranium and spine that require specific considerations for management. Full article

(1) This study evaluates the impact of the CT-guided SIRIO augmented reality navigation system on the procedural efficacy and clinical outcomes of neuroprotection in vertebral thermal ablation (RTA) for primary and metastatic bone tumors. (2) Methods: A retrospective non-randomized analysis of 28 vertebral RTA procedures was conducted, comparing 12 SIRIO-assisted and 16 non-SIRIO-assisted procedures. The primary outcomes included dose-length product (DLP) and epidural dissection time. The secondary outcomes included technical success, complication rates, and pain scores at procedural time (VAS Time 0) and three months post-procedure (VAS Time 1). The statistical analyses included t-tests, Mann–Whitney U tests, and multiple regression. (3) Results: SIRIO-assisted procedures significantly reduced DLP (307.42 mGycm vs. 460.31 mGycm, p = 2.23 × 10⁻⁸) and procedural epidural dissection time (13.48 min vs. 32.26 min, p = 2.61 × 10⁻¹²) compared to non-SIRIO-assisted procedures. Multiple regression confirmed these reductions were significant (DLP: β = −162.38, p < 0.001; time: β = −18.25, p < 0.001). Pain scores (VAS Time 1) did not differ significantly between groups, and tumor type did not significantly influence outcomes. (4) Conclusions: The SIRIO system enhances neuroprotection efficacy and safety, reducing radiation dose and procedural time during spine tumoral ablation while maintaining consistent pain management outcomes. Full article

Tailgut cysts are rare lesions which are found in the rectorectal space. They develop in the final section of the intestine from which the rectum and anus extend and vary from being asymptomatic to symptomatic due to pressure on organs or nerves. Tailgut cysts are more common in females, usually between 30 and 60 years of age. They are thought to be benign, with variable malignancy risks. Surgical excision followed by histological examination is the gold standard of treatment, but access and approach to tailgut cysts depend on the location and morphology of the lesion. We present two symptomatic cases of this very rare pathology. In both cases, the cyst and coccyx bone were successfully excised using different approaches. The first patient was a 40-year-old woman with a large cyst which caused morning tenesmus, urinary outflow disorders and painful ovulation. Due to the cyst size, laparotomy was performed, and a combined approach was used. The second patient is a 36-year-old woman with co-existing endometriosis and a cyst causing pain in the sacral spine, constipation and tenesmus. The tumor was excised using a Kraske approach, and due to the infiltration of the coccyx bone it was removed using an osteotome. In this patient, perforation of the cyst was also observed. Both patients completed follow-ups involving regular surgical check-ups and MRI scans. Descriptions of different symptoms and surgical approaches make our study an important source of knowledge for diagnosing and treating these very rare tumors. Full article

Background: Metastasis commonly occur in the bone tissue. Artificial intelligence (AI) has become increasingly prevalent in the medical sector as support in decision-making, diagnosis, and treatment processes. The objective of this systematic review was to assess the reliability of AI systems in clinical, radiological, and pathological aspects of bone metastases. Methods: We included studies that evaluated the use of AI applications in patients affected by bone metastases. Two reviewers performed a digital search on 31 December 2023 on PubMed, Scopus, and Cochrane library and extracted authors, AI method, interest area, main modalities used, and main objectives from the included studies. Results: We included 59 studies that analyzed the contribution of computational intelligence in diagnosing or forecasting outcomes in patients with bone metastasis. Six studies were specific for spine metastasis. The study involved nuclear medicine (44.1%), clinical research (28.8%), radiology (20.4%), or molecular biology (6.8%). When a primary tumor was reported, prostate cancer was the most common, followed by lung, breast, and kidney. Conclusions: Appropriately trained AI models may be very useful in merging information to achieve an overall improved diagnostic accuracy and treatment for metastasis in the bone. Nevertheless, there are still concerns with the use of AI systems in medical settings. Ethical considerations and legal issues must be addressed to facilitate the safe and regulated adoption of AI technologies. The limitations of the study comprise a stronger emphasis on early detection rather than tumor management and prognosis as well as a high heterogeneity for type of tumor, AI technology and radiological techniques, pathology, or laboratory samples involved. Full article

Epithelioid hemangioma is recognized by the World Health Organization as a distinct benign neoplasm; however, it is characterized by locally aggressive and rarely metastasizing behavior. Epithelioid vascular tumors are rare bony vascular lesions with varying degrees of malignant potential that remain controversial because of their rarity, unusual morphological features, and unpredictable biological behavior. The application of new molecular tools, such as massive parallel sequencing technologies, have provided new diagnostic markers and an opportunity to further refine the classification of bone vascular neoplasms. Very few cases of EH of the spine have been reported in the literature; therefore, it is difficult to make evidence-based therapeutic decisions for these patients. We report herein our experience with eleven patients suffering from EH of the spine. The study population included three males and eight females treated in our center from 2016 to the present; the average age was 44.8 years (range 14–75 years). The surgical, clinical, and radiographic data were retrospectively analyzed. The mean follow-up was 34.8 months. All patients presented lytic vertebral body lesions, six of them with pathological fracture. The majority of patients (80%) presented myelo-radicular compression. All patients were surgically treated, and preoperative embolization was performed in all cases. In light of the literature review and the clinical experience of our center, we can consider EH a locally aggressive tumor that requires surgical treatment in case of symptoms. Here, we propose a treatment algorithm that could be useful in the management of patients with this rare disease. Full article