Search Results (2,549)

Background/Objectives: Peripheral nerve tumours are commonly encountered in clinical practice. Although most are benign, a subset can exhibit aggressive and invasive behaviour, evolving into malignant peripheral nerve sheath tumours (MPNSTs). Due to their rarity and overlapping features with benign lesions, MPNSTs are frequently misdiagnosed during the initial evaluation. Preoperative biopsy may aid in distinguishing malignant from benign lesions. This single-center study aimed to develop and validate a diagnostic algorithm—based on a systematic literature review and institutional case series—to assess the role of preoperative biopsy in the diagnostic workflow. Methods: A systematic review of the literature was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, covering the period from 1998 to 2024. Additionally, a retrospective case series of patients with peripheral nerve lesions treated at the authors’ institution between January 2018 and June 2024 was analysed. Results: Forty-eight articles met the inclusion criteria and were categorized into five key domains: radiological features of MPNSTs, associated risk factors and genetic conditions, the role of preoperative biopsy, use of radiotherapy, and general clinical management strategies. The proposed diagnostic algorithm was applied to a series of 36 patients, four of whom met the criteria for preoperative biopsy. In three of these cases, early diagnosis of MPNSTs was achieved. Conclusions: Preoperative biopsy appears to be a safe and cost-effective tool for the early identification of MPNSTs. Early diagnosis may facilitate the use of neoadjuvant therapies—such as radiotherapy or chemotherapy—potentially enabling more radical surgical resection and improving overall patient outcomes. Full article

Background and Objectives: Spitz tumors represent a diagnostic challenge in dermatopathology due to their large spectrum of morphological characteristics and overlap with malignant lesions, especially in pathology departments where molecular pathology is not available. Even though most Spitz lesions are benign, the uncertainty around their biological behavior necessitates an integrated approach in daily practice. The objective of our study was to evaluate the epidemiological, macroscopic, and histopathological characteristics of Spitz lesions in accordance with WHO Classification of Skin Tumours. Materials and Methods: We performed a retrospective, descriptive, and hypothesis-generating study on Spitz tumors diagnosed between 2018 and 2024 in the Clinical Pathology Department of the Mures Clinical County Hospital, Romania. We included 10 cases and analyzed their macroscopic characteristics (localization, shape, dimension, and color), microscopic characteristics (cellular types, cytologic atypia, pagetoid migration, mitoses, and the type of lesion), and immunohistochemical profile. Results: The study population was composed of young patients with an average age of 20.2 years old, with a slight predominance of female gender. Most lesions were Spitz nevi, intradermic, or compound, with a fusiform, epithelioid, or rhomboid cell shape. Pagetoid migration and cytological atypia were seen in fewer cases. The Ki 67 proliferation index was under 5% in all cases. The main limitation of this study involved the low number of cases and the lack of molecular testing, which limited the molecular characterization of Spitz tumors. Complete excision was performed in all cases. Conclusions: In the absence of molecular testing, our study emphasizes the importance of clinical–morphological assessment using immunohistochemistry in establishing a correct diagnosis in Spitz lesions. Our results confirm that most of the Spitz lesions were benign and provide a basis for future research with a multidisciplinary approach, including molecular testing. Full article

Skin cancer is the most frequently diagnosed form of cancer worldwide. Diagnostic uncertainty can arise when macroscopic or dermoscopic evaluations do not clearly differentiate between benign and malignant lesions. Laser-induced plasma spectroscopy (LIPS), traditionally used in fields like materials science and environmental analysis, has recently gained attention for its applications in human tissue assessment. LIPS works by generating a (micro)plasma when a laser interacts with tissue, producing element-specific light emissions that can be analyzed in real time. In this study, we explored the potential of LIPS to differentiate between benign and malignant skin lesions using the Spectra-Scope^® Score (SSS). Our results revealed a clear distinction: benign lesions showed a median SSS of 1.7, while suspicious and malignant lesions had a significantly higher median score of 8.1 (p < 0.001). Receiver operating characteristic (ROC) curve analysis demonstrated strong diagnostic performance, with an area under the curve (AUC) of 0.82 (p < 0.001). The findings of this preliminary study support the high accuracy of LIPS in identifying malignancy and underscore its promise as a non-invasive, real-time diagnostic aid. Integrating SSS into clinical workflows could enhance the early detection of skin cancer and reduce reliance on invasive diagnostic procedures. However, further validation is needed to fully establish its role in routine dermatological practice. Full article

Background: Primary hepatic extranodal marginal zone lymphoma of mucosa-associated type (MALT) is an extremely rare liver neoplasm. The lesions are often misdiagnosed for the most common primary hepatic malignancy, such as hepatocellular carcinoma and cholangiocarcinoma. As the diagnosis is most often made after the resection, there are still no clear guidelines for the optimal treatment of these patients. Case Presentation: A 30-year-old male patient with known primary sclerosing cholangitis (PSC) was treated at the Department of Abdominal Surgery Ljubljana due to a mass in the right liver, believed to be an intrahepatic cholangiocarcinoma. Due to the extent of the disease, extended right hepatectomy with the resection of the hepatocholedochus, lymphadenectomy, and hepaticojejunal anastomosis were performed. After the surgery, the patient developed a small-for-size syndrome and therefore necessitated a liver transplantation (LT) that was afterwards successfully performed. Discussion: This case highlights the diagnostic challenges of differentiating primary hepatic MALT lymphoma from cholangiocarcinoma on imaging, especially in patients with underlying liver disease. Preoperative confirmation of the malignant disease could potentially change treatment course in our patient. Therefore, a serious surgical complication with development of small-for-size syndrome after major hepatectomy could potentially be prevented. Regarding the underlying liver disease, the patient could probably be a candidate for LT with the bridging chemotherapy. Conclusions: Primary hepatic MALT lymphoma is an extremely rare liver lesion but remains a valid option in a differential diagnosis of liver lesions in patients with chronic viral infection or autoimmune disease, especially in settings of cirrhosis. Moreover, a high level of suspicion must be raised in young patients with solitary liver mass and autoimmune liver disease. Surgical resection is the best way to achieve elimination of the disease. Full article

Objectives: This study aimed to investigate the consistency of lesion identification by Prostate Imaging Reporting and Data System (PI-RADS) and the related clinical and histological characteristics in a high-volume tertiary care center. Materials and methods: The analysis used real-world data from 111 patients between 2018 and 2022. Each patient underwent two multiparametric magnetic resonance imaging (MRI) scans of the prostate at different institutions with a median interval of 42 days between the scans, followed by an MRI-fused biopsy conducted 7 days after the second MRI. Results: The PI-RADS classifications assigned to the index lesions in the in-house prostate MRI were as follows: PI-RADS V, 33.3% (n = 37); PI-RADS IV, 49.5% (n = 55); PI-RADS III, 12.6% (n = 14); and PI-RADS II, 4.5% (n = 5). Cancer detection rates for randomized and/or targeted biopsies were 91.9% (n = 34) for PI-RADS V, 65.5% (n = 36) for PI-RADS IV, 21.4% (n = 3) for PI-RADS III, and 20% (n = 1) for PI-RADS II. Overall, malignant histology was observed in 64.9% (n = 72) of the targeted lesions and 57.7% (n = 64) of the randomized biopsies. In the first performed, external MRI, 18% (n = 20) and 10.8% (n = 12) of the patients were classified in the higher and lower PI-RADS categories, respectively. The biopsy plan was adjusted for 57 patients (51.4%); nevertheless, any cancer could have possibly been identified regardless of the adjustments. Conclusion: The 6-week interval between the MRI scans did not affect the quality of the biopsy results significantly. Full article

Background: Melanoma is one of the most aggressive types of skin cancer. Its diagnosis appears to be challenging due to morphological similarities to benign melanocytic lesions. Even though histopathological evaluation is the diagnostic gold standard, immunohistochemistry (IHC) proves to be useful in challenging cases. Preferentially Expressed Antigen in Melanoma (PRAME) has emerged as a promising diagnostic, prognostic, and therapeutic marker in melanoma. Methods: This review critically examines the role of PRAME across clinical domains. It presents an evaluation of PRAME’s diagnostic utility in differentiating melanomas from benign nevi, its prognostic significance across melanoma subtypes, and therapeutic applications in emerging immunotherapy strategies. An extensive analysis of the current literature was conducted, with a focus on PRAME expression patterns in melanocytic lesions and various malignancies, along with its integration into IHC protocols and investigational therapies. Results: PRAME demonstrates high specificity and sensitivity in distinguishing melanoma from benign melanocytic proliferations, particularly in challenging subtypes such as acral, mucosal, and spitzoid lesions. Its overexpression correlates with poor prognosis in numerous malignancies. Therapeutically, PRAME’s HLA class I presentation enables T-cell-based targeting. Early-phase trials show promising results using PRAME-directed TCR therapies and bispecific ImmTAC agents. However, immune evasion mechanisms (i.e., heterogeneous antigen expression, immune suppression in the tumor microenvironment, and HLA downregulation) pose significant challenges to therapy. Conclusions: PRAME is a valuable biomarker for melanoma diagnosis and a promising target for immunotherapy. Its selective expression in malignancies supports its clinical utility in diagnostic precision, prognostic assessment, and precision oncology. Ongoing research aimed at overcoming immunological barriers will be essential for optimizing PRAME-directed therapies and establishing their place in the personalized management of melanoma. Full article

Sweet syndrome (SS) is a rare neutrophilic dermatosis often associated with hematologic malignancies, particularly myelodysplastic syndromes (MDSs). We report a case of SS-like dermatosis in a patient with MDS who subsequently developed peripheral T-cell non-Hodgkin lymphoma (NHL). We review the literature on Sweet syndrome to contextualize this atypical presentation Methods: We present a case report of a 77-year-old male with leukopenia and known MDS, admitted for a persistent, infiltrated erythematous eruption. The patient underwent repeated dermatologic assessments, and serial skin and bone marrow biopsies with histopathologic and immunohistochemical analysis. A literature review was also conducted, focusing on SS in association with hematologic malignancies, including T-cell NHL. Results: Initial skin biopsies were inconclusive, and SS was diagnosed clinically based on lesion morphology and a prompt response to corticosteroids, despite the absence of definitive neutrophilic infiltrates. During follow-up, the patient’s condition progressed with worsening cytopenias and recurrent febrile episodes. Repeat biopsies eventually confirmed the diagnosis of peripheral T-cell NHL with secondary hemophagocytic lymphohistiocytosis (HLH). Conclusions: This case illustrates the diagnostic uncertainty of SS-like eruptions in hematologic patients when histopathological findings are atypical or absent. Corticosteroid responsiveness may guide early diagnosis. Full article

Background/Objectives: This study aimed to evaluate the diagnostic performance of simplified intravoxel incoherent motion (IVIM) diffusion-weighted imaging (DWI) parameters in distinguishing malignant from benign breast lesions, and to explore their association with clinicopathological features. Methods: This retrospective study included 108 women who underwent breast MRI with multi-b-value DWI (0, 20, 200, 500, 800 s/mm²). Of those 108 women, 73 had pathologically confirmed malignant lesions. IVIM maps (ADC_map, D, D*, and perfusion fraction f) were generated using IB-Diffusion™ software version 21.12. Lesions were manually segmented by radiologists, and clinicopathological data including receptor status, Ki-67 index, cancer type, histologic grade, and molecular subtype were extracted from medical records. Nonparametric tests and ROC analysis were used to assess group differences and diagnostic performance. Additionally, a binary logistic regression model combining D, D*, and f was developed to evaluate their joint diagnostic utility, with ROC analysis applied to the model’s predicted probabilities. Results: Malignant lesions demonstrated significantly lower diffusion parameters compared to benign lesions, including ADC_map (p = 0.004), D (p = 0.009), and D* (p = 0.016), indicating restricted diffusion in cancerous tissue. In contrast, the perfusion fraction (f) did not show a significant difference (p = 0.202). ROC analysis revealed moderate diagnostic accuracy for ADC_map (AUC = 0.671), D (AUC = 0.657), and D* (AUC = 0.644), while f showed poor discrimination (AUC = 0.576, p = 0.186). A combined logistic regression model using D, D*, and f significantly improved diagnostic performance, achieving an AUC of 0.725 (p < 0.001), with 67.1% sensitivity and 74.3% specificity. ADC_map achieved the highest sensitivity (100%) but had low specificity (11.4%). Among clinicopathological features, only histologic grade was significantly associated with IVIM metrics, with higher-grade tumors showing lower ADC_map and D* values (p = 0.042 and p = 0.046, respectively). No significant associations were found between IVIM parameters and ER, PR, HER2 status, Ki-67 index, cancer type, or molecular subtype. Conclusions: Simplified IVIM DWI offers moderate accuracy in distinguishing malignant from benign breast lesions, with diffusion-related parameters (ADC_map, D, D*) showing the strongest diagnostic value. Incorporating D, D*, and f into a combined model enhanced diagnostic performance compared to individual IVIM metrics, supporting the potential of multivariate IVIM analysis in breast lesion characterization. Tumor grade was the only clinicopathological feature consistently associated with diffusion metrics, suggesting that IVIM may reflect underlying tumor differentiation but has limited utility for molecular subtype classification. Full article

Background: Pulmonary benign metastasizing leiomyoma (PBML) is a rare condition characterized by histologically benign smooth muscle tumors occurring at extrauterine sites, often in women with a history of uterine leiomyoma. While PBML generally exhibits indolent behavior, its pathogenesis, management, and malignant potential remain unclear. Methods: This study retrospectively analyzes the clinical characteristics, imaging features, diagnostic approaches, pathological findings, treatment strategies, and outcomes of seven patients with PBML treated at our institution between January 2016 and May 2025. Results: Seven patients were included, with a mean age at diagnosis of 48.9 ± 5.6 years. Two patients presented with respiratory symptoms. Imaging revealed multiple bilateral pulmonary nodules in four patients and solitary nodules in three. Six patients were diagnosed via video-assisted thoracoscopic surgery, and one through computed tomography-guided percutaneous biopsy. Immunohistochemistry revealed positivity for SMA and Desmin in all cases, ER in six, and PR in five, with the Ki-67 labeling index ≤3% in six patients. One patient had a coexisting in situ mucinous adenocarcinoma within the PBML lesion. All had a history of uterine leiomyoma. After diagnosis, one patient received hormonal therapy, and another underwent right adnexectomy. The remaining patients were managed with surveillance without additional treatment. During follow-up, one patient developed distant organ metastasis. Conclusions: PBML is a rare, typically indolent condition with potential for metastasis. Accurate diagnosis relies on imaging, histopathology, and immunohistochemistry. This study reports a unique case of PBML coexisting with intratumoral in situ mucinous adenocarcinoma, a previously unreported finding that may broaden the known histopathological spectrum. Full article

Paraneoplastic syndromes (PNSs) are pathologic conditions produced by neoplasms not attributable to tumor invasion or metastasis. The clinical manifestations of PNSs can precede the diagnosis; these symptoms may serve as early indicators of underlying malignancy. Standard imaging modalities, such as computed tomography (CT) and magnetic resonance imaging (MRI), have limited sensitivity in detecting small or early-stage PNS-associated tumors. FDG PET/CT identifies hypermetabolic lesions suggestive of malignancy and, therefore, facilitates early diagnosis, refined treatment planning, and potentially prolonged patient survival. This review evaluates the diagnostic accuracy, clinical utility, and emerging role of FDG PET/CT in detecting occult malignancies. Syndrome-targeted applications discussed include limbic encephalitis, cerebellar degeneration, Lambert-Eaton myasthenic syndrome, Cushing’s syndrome, hypercalcemia of malignancy, dermatomyositis, and tumor-induced osteomalacia. In addition, the limitations of FDG PET/CT, including false-positive or false-negative findings, are reviewed, while newer PET tracers, like ⁶⁸Ga-DOTATATE, are also highlighted. Ultimately, FDG PET/CT has transformed clinical decision-making, enabling more timely interventions and improved patient management in the context of PNSs. Future directions in imaging, including PET/MRI and ongoing refinements in tracer design, promise to further enhance diagnostic precision, and therapeutic outcomes are also discussed. Full article

Riedel thyroiditis (RT) is a rare immune-mediated inflammatory disease that destroys the thyroid parenchyma, replacing it with storiform fibrosis extending to the extrathyroidal tissue. Secondary fibrotic lesions can be associated as parts of the systemic IgG4-related disease. We present the case of a 52-year-old female patient who presented initially with subacute thyroiditis when corticosteroid treatment was initiated. After a year, compressive respiratory symptoms and dysphagia appear, and fine-needle aspiration cytology is performed to rule out malignancy, but without results. Thyroidectomy is performed, and histopathology shows scleroatrophic thyroiditis, with chronic inflammatory infiltrate containing eosinophils extending in the neighboring tissue, rare atrophic follicles, and obliterative vasculitis. Immunohistochemistry proves abundant plasma cells with IgG4 secretion; the macrophage is mainly the M2 subtype. RT is diagnosed, and a CT (computed tomography) scan is performed to detect peritracheal fibrosis and subtle pulmonary modifications. A literature review was performed that situates our findings in the context of the current literature. The last part discusses the immuno-inflammatory mechanisms behind IgG4-related diseases. Full article

MRI is a non-invasive imaging technique employed today in modern diagnostic medicine due to the fact it is capable of generating tissue architecture and function information with high image resolution without the use of ionizing radiation, unlike x-ray or CT scans. The advantages of MRI discussed in this review include better soft tissue contrast, the opportunity to perform imaging in different planes, and the ability to detect small changes in tissues, which helps to use MRI in many specialties, including cancer diagnosis and staging, as well as neurological and cardiovascular diseases. More particularly, this review aims to assess the contribution of MRI to the detection of liver cancer, especially HCC and ICC—the most frequent and aggressive types of pathology. Because of its high-resolution, MRI provides clear visualization of the small hepatic lesion and vascular mapping, which is crucial for early diagnosis and staging. It also reveals higher sensitivity and specificity than ultrasound and CT in identifying liver cancer dimensions and relations with system vasculature and a safer technique for patients who need many follow-up images. This is in addition to newer techniques that have been developed from MRI, which include the DWI, DCE-MRI, and MRE, all of which yield functional information concerning the perfusion of the tumor and the stiffness of the tissue, respectively, thus improving the diagnosis. Moreover, the application of artificial intelligence to MRI is improving lesion identification and cancer assessment, as well as patient outcome prediction, while relieving the burden of radiologists. Suggested improvements for future work include the combination of MRI with other diagnostic approaches, including circulating cell analysis and molecular imaging in managing liver cancer. Still, there is a limitation in MRI’s access globally, because scanners are expensive and unavailable in some parts of the world. Technological improvements and greater availability will extend MRI more as a valuable modality in the treatment of liver malignancies, more so for diagnosis and staging. Full article

Background and Clinical Significance: Cocaine-induced vasculitis (CIV), especially when associated with PR3-ANCA positivity, can be very similar both clinically and serologically to idiopathic granulomatosis with polyangiitis (GPA). The distinction between these entities is crucial due to the different etiologies, treatment strategies, and prognoses. We present a unique case of CIV that manifested exclusively in a previously dissected neck area—an example of the locus minoris resistance phenomenon—and was initially misinterpreted as skin melanoma recurrence. Case presentation: A 59-year-old man with a history of skin melanoma (pT4b, left pectoral region) and a previous modified radical neck dissection presented in 2024 with new onset of painful subcutaneous nodules and ulcerative lesions at the surgical site. The imaging procedures (CT and PET-CT) raised the suspicion of locoregional malignant recurrence. However, histology revealed necrotizing granulomatous inflammation without tumor cells. Extensive infectious and autoimmune investigations ruled out alternative causes. Subsequently, the patient developed a perforation of the nasal septum and ulcers on the oral mucosa. PR3-ANCA was strongly positive (up to 49 U/mL). Urine toxicology revealed intranasal cocaine use. A diagnosis of cocaine-induced PR3-ANCA vasculitis was made. After immunosuppressive therapy (high-dose glucocorticoids and methotrexate) and substance withdrawal counseling, the patient showed significant clinical improvement. Conclusions: This case highlights the importance of including CIV in the differential diagnosis of granulomatous or ulcerative lesions, especially when they are localized to previous surgical sites. The presentation illustrates the concept of locus minoris resistentiae and highlights the role of toxicological testing in atypical ANCA-positive disease. Full article

Background: Ultrasound and colour Doppler are adjuvant techniques widely used in clinical settings in obstetrics, cardiology, and others. Its use in dermatology is more incipient although it presents potential for clinical use namely in dermo-oncology. Objective: This study explores the usefulness of the combination of cutaneous ultrasound with Doppler after digital dermatoscopy in distinguishing between most common benign and malignant skin lesions, focusing on the importance of different vascular patterns. To streamline the diagnostic process, we propose a combined imaging workflow that integrates dermoscopic findings with vascular and structural data obtained via Doppler ultrasound. Methods: In total, 42 benign and malignant skin tumours were analysed in a population of 42 patients using a Fotofinder digital dermatoscopy device and a GE ultrasound machine with a high-frequency probe (20 MHz). Doppler was applied to assess lesion vascularization and identify distinct blood flow patterns. Results: Cutaneous ultrasound revealed that malignant lesions often exhibited intense and disorganized vascularization, while benign lesions displayed more ordered and peripheral blood flow patterns. In all of our cases, ultrasound with Doppler imaging clarified the uncertainties raised by dermatoscopy. Conclusions: The use of Doppler cutaneous ultrasound after digital dermatoscopy proved to be a valuable tool to aid the diagnosis in dermatology, as it improved the differential diagnosis between benign and malignant lesions, contributing to the establishment of the final diagnosis in the studied cases. Full article

Objectives: Primary bone tumors such as osteosarcoma and chondrosarcoma are rare but aggressive malignancies that require early and accurate diagnosis. Although X-ray radiography is a widely accessible imaging modality, detecting small or multi lesions remains challenging. Existing deep learning models are often trained on small, single-center datasets and lack generalizability, limiting their clinical effectiveness. Methods: We propose the YOLOv11-MTB, a novel enhancement to YOLOv11 integrating multi-scale Transformer-based attention, boundary-aware feature fusion, and receptive field augmentation to improve detection of small and multi-focal lesions. The model is trained and evaluated on two multi-center datasets, including the BTXRD dataset containing annotated radiographs with lesion types and bounding boxes. Results: YOLOv11-MTB achieves state-of-the-art performance on bone tumor detection tasks. It attains a mean average precision (mAP) of 79.6% on the BTXRD dataset, outperforming existing methods. In clinically relevant categories, the model achieves small-lesion mAP of 55.8% and multi-lesion mAP of 63.2%. Conclusions: The proposed YOLOv11-MTB framework demonstrates promising generalization and accuracy for primary bone tumor detection in radiographic images. Its performance in detecting small and multiple lesions suggests potential for clinical application. Full article