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Purpose: To evaluate the correlation between ectopic adipose tissue and iron overload severity in patients with hemochromatosis., Material and Methods: A retrospective cohort of 52 patients who underwent liver iron concentration quantification from January 2015 to October 2023 using a 3.0T MRI scanner. R2* relaxation times and proton density fat fraction (PDFF) were assessed for the entire liver volume and a specific region of interest (ROI) placed in the right lobe. Total body fat (TF), subcutaneous fat (SCF), intermuscular fat (IMF), and visceral fat (VSF) percentages were calculated from a single axial slice at the level of the third lumbar vertebra. Additionally, ratios of IMF-to-VSF, IMF-to-SCF, and SCF-to-VSF were calculated. Standard iron laboratory parameters were collected at least one month prior to MRI. Pearson correlation coefficient was used for correlation analysis., Results: The mean age of participants was 53.9 ± 19.6 years. IMF positively correlated with R2* values in the ROI (p = 0.005, r s  = 0.382) and entire liver (p = 0.016, r s  = 0.332). Conversely, VSF negatively correlated with R2* values from the ROI (p = < 0.001, r s  = - 0.488) and entire liver (p = < 0.001, r s  = - 0.459). Positive correlations were also found between IMF-to-VSF and R2* of the ROI (p = 0.003, r s  = 0.400) and whole liver (p = 0.008, r s  = 0.364). Ferritin levels positively correlated with R2* values calculated from ROI (p = 0.002, r s  = 0.417) and whole liver volume (p = 0.004, r s  = 0.397). A positive correlation was noted between PDFF of the entire liver and TF (p = 0.024, rs = 0.313)., Conclusion: The percentage of Intermuscular and visceral adipose tissues correlates with the severity of liver iron overload in hemochromatosis patients., Competing Interests: Declarations. Conflict of interest: The authors have no relevant financial or non-financial interests to disclose. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of University of Graz (31.10.2023 / EK-Number 35-346 ex 22/23). The need for written informed consent was waived., (© 2024. The Author(s).)

Cellular myxoma is a benign soft tissue tumor frequently associated with GNAS mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to identify the undescribed methylation profile of cellular myxoma and compare it to myxofibrosarcoma. We performed molecular analysis on twenty cellular myxomas and nine myxofibrosarcomas and analyzed the results using the methylation-based DKFZ sarcoma classifier. A total of 90% of the cellular myxomas had GNAS mutations (four loci had not been previously described). Copy number variations were found in all myxofibrosarcomas but in none of the cellular myxomas. In the classifier, none of the cellular myxomas reached the 0.9 threshold. Unsupervised t-SNE analysis demonstrated that cellular myxomas form their own clusters, distinct from myxofibrosarcomas. Our study shows the diagnostic potential and the limitations of molecular analysis in cases where morphology and immunohistochemistry are not sufficient to distinguish cellular myxoma from myxofibrosarcoma, particularly regarding GNAS wild-type tumors. The DKFZ sarcoma classifier only provided a valid prediction for one myxofibrosarcoma case; this limitation could be improved by training the tool with a more considerable number of cases. Additionally, the classifier should be introduced to a broader spectrum of mesenchymal neoplasms, including benign tumors like cellular myxoma, whose distinct methylation pattern we demonstrated.

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an emerging adult-onset systemic autoinflammatory disorder affecting multiple organ systems. While lung involvement is common in this syndrome, literature regarding specific patterns is sparse. In this report, we present a case description of a patient with VEXAS syndrome who presented at the emergency department on two separate occasions with acute interstitial pneumonia (AIP) and diffuse alveolar hemorrhage (DAH). A literature review with a comparison of our observed findings to the general findings of VEXAS syndrome, AIP, and DAH is provided. This report underscores the rarity of specific pulmonary manifestations associated with VEXAS syndrome, contributing valuable insight to the limited literature available on this topic.

Objective: We aim to evaluate the efficacy of CT-guided percutaneous radiofrequency ablation (RFA) and surgical treatment in osteoid osteoma (OO) treated at the Medical University of Graz., Materials and Methods: In a single-institution study, we analysed data from January 2005 to January 2021 of patients with histological/radiological diagnosis of OO. CT and MRI scans were reviewed for typical findings. Means (with SD) and medians (with IQR) were reported for normally and non-normally distributed variables. Differences between groups were assessed using chi-squared tests and t-tests., Results: One hundred nineteen patients (mean age: 21.6 ± 10.9 years; 63.9% males) with confirmed OO were retrospectively evaluated. 73 and 43 patients underwent RFA and surgery, respectively. In three cases, RFA combined with surgery was performed. Pre-intervention, 103 patients (88.8%) had undergone CT, and 101 had an MRI (87.1%). The nidus was confirmed in 82.5% of cases with CTs (85/103) and 63.4% with MRIs (64/101). The majority of nidi were located cortically (n = 96; 82.8%), most frequently in the femur (38 patients, 33.3%) with a median size of 8.0 mm (IQR: 5.0-12.0 mm). Median symptom duration before treatment was 6.0 (IQR: 4.0-13.0) months. The complication rate was 12.1% (14/116; 15.1% RFA vs. 7.0% surgery; p = 0.196). In total, 11.2% of patients had persistent symptoms after one week with clinical success rates of RFA and surgery, 86.3% and 90.7% (p = 0.647), respectively., Conclusion: Compared to surgical treatment, CT-guided percutaneous RFA is a safe, minimally invasive, reliable, and efficient treatment option for OO., Critical Relevance Statement: This article critically assesses the diagnosis and treatment of osteoid osteoma, emphasising accurate imaging, and detailing a non-invasive option for effective management., Key Points: • This study analyses 116 cases of OO at one institution, focusing on symptom persistence, recurrence in short-term follow-up, and complications in two study groups. • Surgery showed higher, though not statistically significant, success despite comparable symptom persistence; CT displayed typical OO features more than MRI, regardless of the intramedullary, cortical and subperiosteal location as well as the site of the affected bone. • CT-guided RFA is an effective therapeutic alternative for OO compared to surgical intervention. In case of atypical OO appearance, RFA is not the first-line treatment., (© 2024. The Author(s).)

Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht.

Purpose: The aim of the study is to assess the influence of manual adjustment of the Patlak range in computed tomography (CT) perfusion analysis of rectal carcinoma compared with default range of the perfusion software., Methods: This study was approved by the institutional review board and informed consent was obtained. Twenty-one patients (12 male, 9 female; mean age ± SD, 59 ± 11 years) with rectal cancer were included and underwent perfusion CT before preoperative chemoradiotherapy. Equivalent blood volume (BV) and flow-extraction (FE) were calculated using the Patlak plot model. Two perfusion sets were calculated per patient, a perfusion set using the default setting as provided by the software (dBV, dFE) and an optimized perfusion set after manual adaption of the Patlak range (aBV, aFE), which was limited to the intravascular space clearance of contrast to the extravascular space. Perfusion values calculated with both methods were compared for significance in differences using the Wilcoxon test. A P value of 0.05 or less was defined as statistically significant., Results: Adjustment of the Patlak range statistically significantly influenced BV and FE calculation. Median dBV was 23.2 mL/100 mL (interquartile range [IQR], 12.1 mL/100 mL), whereas median aBV was 20.3 mL/100 mL (IQR, 10.9 mL/100 mL). The difference in BV was statistically significant ( P = 0.021). Median dFE was 8.3 mL/min/100 mL (IQR, 4.7 mL/min/100 mL), whereas median aFE was 15.4 mL/min/100 mL (IQR, 5.8 mL/min/100 mL). The difference in FE was statistically significant ( P < 0.001)., Conclusions: Our findings indicate that in perfusion CT of rectal carcinoma, adjustment of the Patlak range may significantly influence BV and FE compared with default setting of the software. This may contribute to standardization in the use of this technique for functional imaging of rectal cancer., Competing Interests: The authors declare no conflict of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: To prevent further spread of the disease and secondary deformity, musculoskeletal tuberculosis (TB) remains a challenge in terms of early diagnosis and treatment. This study gives an overview on TB trends in Austria (pulmonary and extrapulmonary TB) (A) and analyses a retrospective series of musculoskeletal TB cases diagnosed and treated at an Austrian tertiary centre (B)., Methods: (A) We analysed data obtained from the Austrian national TB registry to provide information on TB patients´ demographics and manifestation sites between 1995 and 2019. (B) Furthermore, we performed an observational study of all patients with a confirmed diagnosis of musculoskeletal TB who were admitted to the Department of Orthopaedics and Trauma, Medical University of Graz (2005-2019). Demographic, diagnostic, clinical and follow-up data were retrieved from the medical records., Results: (A) From 1995 to 2019, a significant linear reduction in overall Austrian tuberculosis incidence rates occurred (p < 0.001). In the period investigated, Austria recorded a total of 307 patients with musculoskeletal TB. (B) Our retrospective case-series included 17 individuals (9 males, 8 females; average follow-up 48.4 months; range 0-116). There was a biphasic age distribution with a peak in elderly native Austrians (median 69, range 63-92), and a second peak in younger patients with a migration background (median 29, range 18-39). Sites of manifestation were the spine (n = 10), peripheral joints (n = 5), and the soft tissues (n = 2). Diagnosis was based on histology (n = 13), PCR (n = 14), and culture (n = 12). Eleven patients underwent surgery (64.7%). Secondary deformities were frequent (n = 9), and more often observed in patients with spinal TB (n = 6)., Conclusion: Musculoskeletal TB should be considered if untypical joint infections or nonspecific bone lesions occur in younger patients with a migration background or in patients with specific risk factors., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Artificial bone graft substitutes (ABGS) for curettage of bone tumors are becoming increasingly popular. The aim of this retrospective analysis was to determine the efficacy of the ABGS Cerasorb (Curasan-AG, Kleinostheim, Germany), a beta-tricalcium phosphate (beta-TCP), concerning resorption profile, bone healing, and remodeling after surgery and to evaluate potential complications., Methods: Forty-three patients suffering from benign and low-grade malignant bone tumors were treated with curettage and refilling of the bony cavity using the ABGS Cerasorb between 2018 and 2021 and included in the final analysis. Clinical follow-up exams with X-rays in two planes were performed 6 weeks, 3 months, 6 months, and 1 year after surgery., Results: After a mean follow-up period of 14.6 months, radiological consolidation following curettage was observed in all patients. Total resorption was observed in 16.3% of patients; in the other 83.7%, resorption was partial. In four patients, of whom two had a tumor in the distal femur and two in the humeral diaphysis, fractures occurred within 6 weeks after primary surgery., Conclusion: In conclusion, the beta-TCP Cerasorb seems to be a reliable bone graft substitute with low complication rates and is a suitable alternative to autologous bone grafts or allografts. Nonetheless, it shows a tendency of delayed resorption., Level of Evidence: III; retrospective cohort study., Competing Interests: Conflict of interestThe authors have no relevant financial or non-financial interests to disclose., (© The Author(s) 2023.)

In the last decade, new tumor entities have been described, including EWSR1/FUS::NFATC2 -rearranged neoplasms of different biologic behavior. To gain further insights into the behavior of these tumors, we analyzed a spectrum of EWSR1/FUS::NFATC2 -rearranged neoplasms and discuss their key diagnostic and molecular features in relation to their prognosis. We report five patients with EWSR1/FUS::NFATC2 -rearranged neoplasms, including one simple bone cyst (SBC), two complex cystic bone lesions lacking morphological characteristics of SBC, and two sarcomas. In three cases, fluorescence in situ hybridization (FISH) and in all cases copy number variation (CNV) profiling and fusion analyses were performed. All patients were male, three cystic lesions occurred in children (aged 10, 14, and 17 years), and two sarcomas in adults (69 and 39 years). Fusion analysis revealed two FUS::NFATC2 rearrangements in two cystic lesions and three EWSR1::NFATC2 rearrangements in one complex cystic lesion and two sarcomas. EWSR1 FISH revealed tumor cells with break-apart signal without amplification in one complex cystic lesion and EWSR1 amplification in both sarcomas was documented. CNV analysis showed simple karyotypes in all cystic lesions, while more complex karyotypes were found in NFATC2 -rearranged sarcomas. Our study supports and expands previously reported molecular findings of EWSR1/FUS::NFATC2 -rearranged neoplasms. The study highlights the importance of combining radiology and morphologic features with molecular aberrations. The use of additional molecular methods, such as CNV and FISH in the routine diagnostic workup, can be crucial in providing a correct diagnosis and avoiding overtreatment.

Objective: Guidelines for previous negative biopsy (PNB) cohorts with a suspicion of prostate cancer (PCa) after positive multiparametric (mp) magnetic-resonance-imaging (MRI) often favour the fusion-guided targeted prostate-biopsy (TB) only approach for Prostate Imaging-Reporting and Data System (PI-RADS) ≥3 lesions. However, recommendations lack direct biopsy performance comparison within biopsy naïve (BN) vs. PNB patients and its prognostication of the whole mount pathology report (WMPR), respectively. We suppose, that the combination of TB and concomitant TRUS-systematic biopsy (SB) improves the PCa detection rate of PI-RADS 2, 3, 4 or 5 lesions and the International Society of Urological Pathology (ISUP)-grade predictability of the WMPR in BN- and PNB patients., Methods: Patients with suspicious mpMRI, elevated prostate-specific-antigen and/or abnormal digital rectal examination were included. All PI-RADS reports were intramurally reviewed for biopsy planning. We compared the PI-RADS score substratified TB, SB or combined approach (TB/SB) associated BN- and PNB-PCa detection rate. Furthermore, we assessed the ISUP-grade variability between biopsy cores and the WMPR., Results: According to BN ( n  = 499) vs. PNB ( n  = 314) patients, clinically significant (cs) PCa was detected more frequently by the TB/SB approach (62 vs. 43%) than with the TB (54 vs. 34%) or SB (57 vs. 34%) (all p  < 0.0001) alone. Furthermore, we observed that the TB/SB strategy detects a significantly higher number of csPCa within PI-RADS 3, 4 or 5 reports, both in BN and PNB men. In contrast, applied biopsy techniques were equally effective to detect csPCa within PI-RADS 2 lesions. In case of csPCa diagnosis the TB approach was more often false-negative in PNB patients (BN 11% vs. PNB 19%; p  = 0.02). The TB/SB technique showed in general significantly less upgrading, whereas a higher agreement was only observed for the total and BN patient cohort., Conclusion: Despite csPCa is more frequently found in BN patients, the TB/SB method always detected a significantly higher number of csPCa within PI-RADS 3, 4 or 5 reports of our BN and PNB group. The TB/SB strategy predicts the ISUP-grade best in the total and BN cohort and in general shows the lowest upgrading rates, emphasizing its value not only in BN but also PNB patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2022 Mischinger, Schöllnast, Zurl, Geyer, Fischereder, Adelsmayr, Igrec, Fritz, Merdzo-Hörmann, Elstner, Schmid, Triebl, Trimmel, Reiter, Steiner, Rosenlechner, Seles, Pichler, Pichler, Riedl, Schöpfer-Schwab, Strobl, Hutterer, Zigeuner, Pummer, Augustin, Ahyai, Mannweiler, Fuchsjaeger and Talakic.)

Background: Osteoid osteomas of the foot are rare, with a varying and atypical clinical as well as radiological presentation impeding early diagnosis and treatment. The aim of the present multicentre study was to 1) analyze epidemiological, clinical and radiological findings of patients with foot osteoid osteomas and to 2) deduce a diagnostic algorithm based on the findings., Methods: A total of 37 patients (25 males, 67.6%, mean age 23.9 years, range 8-57 years) with osteoid osteomas of the foot were retrospectively included, treated between 2000 and 2014 at 6 participating tertiary tumor centres. Radiographic images were analyzed, as were patients' minor and major complaints, pain relief and recurrence., Results: Most osteoid osteomas were located in the midfoot (n = 16) and hindfoot (n = 14). Painful lesions were present in all but one patient (97.3%). Symptom duration was similar for hindfoot and midfoot/forefoot (p = 0.331). Cortical lesions required fewer x‑rays for diagnosis than lesions at other sites (p = 0.026). A typical nidus could be detected in only 23/37 of x‑rays (62.2%), compared to 25/29 CT scans (86.2%) and 11/22 MRIs (50%). Aspirin test was positive in 18/20 patients (90%), 31 patients (83.8%) underwent open surgery. Pain relief was achieved in 34/36 patients (outcome unknown in one), whilst pain persisted in two patients with later confirmed recurrence., Conclusions: As previously reported, CT scans seem to be superior to MRIs towards detection of the typical nidus in foot osteoid osteomas. In patients with unclear pain of the foot and inconclusive x‑rays, osteoid osteoma should be considered as differential diagnosis., (© 2021. The Author(s).)

Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht.

Background and purpose - Cat scratch disease (CSD) is a self-limiting disease caused by Bartonella (B.) henselae. It is characterized by granulomatous infection, most frequently involving lymph nodes. However, it can present with atypical symptoms including musculoskeletal manifestations, posing a diagnostic challenge. We describe the prevalence and demographics of CSD cases referred to a sarcoma center, and describe the radiological, histological, and molecular findings.Patients and methods - Our cohort comprised 10 patients, median age 27 years (12-74) with clinical and radiological findings suspicious of sarcoma.Results - 7 cases involved the upper extremities, and 1 case each involved the axilla, groin, and knee. B. hensela e was found in 6 cases tested using polymerase chain reaction and serology in 5 cases. 9 cases were soft tissue lesions and 1 lesion involved the bone. 1 patient had concomitant CSD with melanoma metastasis in enlarged axillary lymph nodes. On MRI, 5 soft tissue lesions were categorized as probably inflammatory. In 3 cases, with still detectable lymph node structure and absent or initial liquefaction, the differential diagnosis included lymph node metastasis. A sarcoma diagnosis was suggested in 4 cases. The MRI imaging features of the bone lesion were suspicious of a bone tumor or osteomyelitis.Interpretation - Atypical imaging findings cause a diagnostic challenge and the differential diagnosis includes malignant neoplasms (such as sarcoma or carcinoma metastasis) and other infections. The distinction between these possibilities is crucial for treatment and prognosis.

Background:  In the diagnosis of bone and soft-tissue sarcomas, the continuous advancement of various imaging modalities has improved the detection of small lesions, surgical planning, assessment of chemotherapeutic effects, and, importantly, guidance for surgery or biopsy., Method:  This review was composed based on a PubMed literature search for the terms "bone sarcoma," "bone cancer" and "soft tissue sarcoma," "imaging," "magnetic resonance imaging", "computed tomography", "ultrasound", "radiography", and "radiomics" covering the publication period 2005-2020., Results and Conclusion:  As discussed in this review, radiography, ultrasound, CT, and MRI all play key roles in the imaging evaluation of bone and soft-tissue sarcomas. In daily practice, advanced MRI techniques complement standard MRI but remain underused, as they are considered time-consuming, technically challenging, and not reliable enough to replace biopsy and histology. PET/MRI and radiomics have shown promise regarding the imaging of sarcomas in the future., Key Points:   · Radiographs remain crucial in diagnostic imaging algorithms for sarcomas.. · US is an initial imaging study for the evaluation of superficial soft-tissue tumors.. · The role of CT continues to evolve as new techniques emerge.. · MRI allows the noninvasive evaluation of soft-tissue, osseous, and articular structures.. · Machine learning methods could improve personalized selection of therapy for patients with sarcoma.., Citation Format: · Igrec J, Fuchsjäger MH. Imaging of Bone and Soft-Tissue Sarcomas. Fortschr Röntgenstr 2021; 193: 1171 - 1182., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Competing Interests: The authors declare that they have no conflict of interest.

We present the case of a 66-year-old bisexual patient suffering from painful bloody defecation, linked to rectal thickening, rectovesical fistula and enlarged lymph nodes in the mesorectal area. The patient was misdiagnosed with rectal cancer (T3 N2) on MRI but the symptoms of the patient were due to lymphogranuloma venereum. After adequate treatment with doxycycline, symptoms faded within days; a control MRI showed complete regression of all pathologic alterations.

Purpose: To assess correlations of lean body weight (LBW) calculated with various formulas, total body weight (TBW), body height (BH), body mass index (BMI), body surface area (BSA) and fat-free mass (FFM) with vascular and parenchymal enhancement in multiphasic CT of the liver., Method: Thirty consecutive patients underwent multiphasic CT of the liver using constant iodine dose and flow rate. Contrast enhancement of aorta, portal vein and liver was calculated by measuring mean vascular and parenchymal attenuation in pre-contrast and post-contrast phases. Correlations of TBW, BH, BMI, BSA, FFM, and LBW (calculated with formulas of Boer, Hume, James and Green&Duffull) with enhancement were tested using Spearman's correlation coefficient. The method of Fieller et al. was used to calculate 95 % confidence intervals. A p-value ≤ 0.05 was considered statistically significant., Results: Aortal enhancement correlated strongly with TBW, BSA, LBW Boer and LBW Hume and moderately with BH, BMI, FFM, LBW James and LBW Green&Duffull . Liver enhancement in the late arterial phase correlated moderately with TBW, FFM, LBW Boer , LBW Hume and LBW Green&Duffull and weakly with BSA. Liver enhancement in the portal venous phase correlated strongly with TBW, BSA, FFM, LBW Boer , LBW Hume and LBW Green&Duffull , whereby overlap of the 95 % CI graphs demonstrated that the differences in the correlation coefficients were not statistically significant. Liver enhancement in the delayed phase correlated moderately with BH but did not correlate significantly with any other parameter., Conclusion: Regardless of the form used for calculation, LBW did not correlate statistically significantly stronger than TBW with vascular or parenchymal enhancement of the liver., (Copyright © 2021. Published by Elsevier B.V.)

Abstract: Prostate cancer (PC) is one of the most common cancers affecting men worldwide, with a high recurrence rate after therapy. 68Ga-PSMA-11 and 18F-fluciclovine are PET imaging tracers for the detection of recurrence sites in PC patients. 68Ga-PSMA-11 is a membrane antigen overexpressed by tumor cells, whereas 18F-fluciclovine targets increased amino acid transporter in the membrane of cancer cells. We report a case of an 83-year-old man with known oligodendroglioma and biochemically recurrent PC who shows a high focal 68Ga-PSMA-11 and 18F-fluciclovine uptake in the brain., Competing Interests: Conflicts of interest and sources of funding: none declared., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Fusions involving NTRK1, NTRK2, and NTRK3 are oncogenic drivers occurring in a spectrum of mesenchymal neoplasms ranging from benign to highly malignant tumors. To gain further insights into the staining profile with the pan-TRK assay, we analyzed a large number of soft tissue sarcomas and correlated our findings with molecular testing. Additionally, we expand the spectrum of NTRK-fusion tumors by reporting a mesenchymal lesion in the lung as well as a mesenchymal skin lesion in the spectrum of benign fibrous histiocytoma with NTRK-fusion. We retrospectively reviewed soft tissue sarcomas diagnosed at the Diagnostic and Research Institute of Pathology, Medical University of Graz, between 1999 and 2019, and cases from the consultation files of one of the authors (BLA). In total, 494 cases were analyzed immunohistochemically with pan-TRK antibody (clone EPR17341, RTU, Roche/Ventana) and positive cases (defined as any cytoplasmic/nuclear staining in more than 1% of tumor cells) underwent next-generation sequencing (NGS). Immunohistochemical staining was observed in 16 (3.2%) cases. Eleven cases with focal weak and moderate cytoplasmic/membranous or focal moderate to strong nuclear staining did not harbor an NTRK-fusion (three synovial sarcomas, three leiomyosarcomas, two extraskeletal myxoid chondrosarcomas, and one each: dedifferentiated liposarcoma, pleomorphic liposarcoma, and myxofibrosarcoma). Four cases showed strong diffuse nuclear and/or cytoplasmatic staining, and one case showed diffuse, but weak cytoplasmic staining. All these cases demonstrated an NTRK-fusion (LMNA-NTRK1, IRF2BP2-NTRK1, TMB3-NTRK1, ETV6-NTRK3, RBPMS-NTRK3). Pan-TRK assay (clone EPR17341, RTU, Roche, Ventana) immunohistochemistry serves as a reliable diagnostic marker that can also be expressed in non-NTRK-rearranged mesenchymal neoplasms. It can be used as a surrogate marker for identification of NTRK fusion, nevertheless, an RNA-based NGS for detection of the specific fusion should be performed to confirm the rearrangement, if patients are undergoing targeted therapy. Additionally, we identified NTRK-fusion-positive, primary mesenchymal tumors of the lung and the skin.

Background . Nodular fasciitis (NF) is a self-limiting, benign mesenchymal neoplasm of fibroblastic/myofibroblastic origin. Due to the fast growth, cellularity, and frequently observed high mitotic count, it is commonly misdiagnosed as a sarcoma, often resulting in overtreatment. Intraarticular examples of NF are extremely rare. Radiologically, NF can mimic fibroma of the tendon sheath, tenosynovial giant cell tumor, and synovial chondromatosis. Histology can vary from hypercellular, mitotically active lesions to fibrotic, less cellular ones, and can, therefore, mimic other benign and low-grade malignant neoplasms. Recently, the MYH9-USP6 fusion has been found in up to 92% of NF. Case Presentation . In this article, we report a case of a 38-year-old patient with an intraarticular lesion, radiologically suspicious of tenosynovial giant cell tumor. Histology demonstrated a spindle cell lesion composed of fibroblasts/myofibroblasts embedded in a highly collagenous/hyalinized stroma, partly arranged in short fascicles. Extravasated erythrocytes and rare mitotic figures were present. Immunohistochemically, tumor cells expressed smooth muscle actin and were negative for desmin, β-catenin, CD34, and SOX10. These findings rendered the diagnosis of NF. Molecular analysis using next-generation sequencing (Archer FusionPlex Sarcoma Panel) revealed gene rearrangement involving USP6 and MYH9 supporting the diagnosis of NF in the knee joint. Conclusions . Radiological and histological features of NF can overlap with other benign and low-grade malignant lesion. Identification of the USP6 gene rearrangements or finding of the MYH9-USP6 fusion, especially in core needle biopsies and in the lesions occurring at unusual sites, can result in adequate therapeutic approach avoiding overtreatment.

Chordomas are malignant bone tumours with a reported annual incidence of 0.08 per 100,000 cases. They show a notochordal differentiation and are characterised by their nuclear expression of brachyury (TBXT). Chordomas are localised in the axial skeleton, where they occur from the clivus to the sacrococcygeal region. They are slow growing, locally destructive tumours, and are often not diagnosed until they have reached an advanced stage. Putative precursor-lesions are benign notochordal cell lesions, which are microscopically small and intraosseous. Different histological chordoma subtypes exist, which differ in their prognosis. To date, there are no known recurrent genetic drivers for this disease. Brachyury seems to play a key role in the pathogenesis of chordoma, though the detailed mechanism still needs to be elucidated. Surgical en bloc resection with negative margins is the only curative treatment for this disease. High-dose irradiation, particularly with protons and carbon ions, is a therapeutic alternative in cases of inoperable tumours. Currently, there is no approved medical treatment for chordoma. Clinical trials exploring additional therapeutic modalities are ongoing.