Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study

BACKGROUND AND OBJECTIVES: Oculopharyngeal muscular dystrophy (OPMD) is a rare progressive neuromuscular disease. MRI is one of the techniques that is used in neuromuscular disorders to evaluate muscle alterations. The aim of this study was to describe the pattern of fatty infiltration of orofacial and leg muscles using quantitative muscle MRI in a large national cohort and to determine whether MRI can be used as an imaging biomarker of disease progression in OPMD. METHODS: Patients with OPMD (18 years or older) were invited from the national neuromuscular database or by their treating physicians and were examined twice with an interval of 20 months, with quantitative MRI of orofacial and leg muscles to assess fatty infiltration which were compared with clinical measures. RESULTS: In 43 patients with genetically confirmed OPMD, the muscles that were affected most severely were the tongue (mean fat fraction: 37.0%, SD 16.6), adductor magnus (31.9%; 27.1), and soleus (27.9%; 21.5) muscles. The rectus femoris and tibialis anterior muscles were least severely affected (mean fat fractions: 6.8%; SD 4.7, 7.5%; 5.9). Eleven of 14 significant correlations were found between fat fraction and a clinical task in the corresponding muscles (r = -0.312 to -0.769, CI = -0.874 to -0.005). At follow-up, fat fractions had increased significantly in 17 of the 26 muscles: mean 1.7% in the upper leg muscles (CI = 0.8-2.4), 1.7% (1.0-2.3) in the lower leg muscles, and 1.9% (0.6-3.3) in the orofacial muscles (p < 0.05). The largest increase was seen for the soleus (3.8%, CI = 2.5-5.1). Correlations were found between disease duration and repeat length vs increased fat fraction in 7 leg muscles (r = 0.323 to -0.412, p < 0.05). DISCUSSION: According to quantitative muscle MRI, the tongue, adductor magnus and soleus show the largest fat infiltration levels in patients with OPMD. Fat fractions increased in several orofacial and leg muscles over 20 months, with the largest fat fraction increase seen in the soleus. This study supports that this technique is sensitive enough to show worsening in fat fractions of orofacial and leg muscles and therefore a responsive biomarker for future clinical trials.

Soft tissue tumor imaging in adults: European Society of Musculoskeletal Radiology-Guidelines 2023-overview, and primary local imaging: how and where?

OBJECTIVES: Early, accurate diagnosis is crucial for the prognosis of patients with soft tissue sarcomas. To this end, standardization of imaging algorithms, technical requirements, and reporting is therefore a prerequisite. Since the first European Society of Musculoskeletal Radiology (ESSR) consensus in 2015, technical achievements, further insights into specific entities, and the revised WHO-classification (2020) and AJCC staging system (2017) made an update necessary. The guidelines are intended to support radiologists in their decision-making and contribute to interdisciplinary tumor board discussions. MATERIALS AND METHODS: A validated Delphi method based on peer-reviewed literature was used to derive consensus among a panel of 46 specialized musculoskeletal radiologists from 12 European countries. Statements were scored online by level of agreement (0 to 10) during two iterative rounds. Either "group consensus," "group agreement," or "lack of agreement" was achieved. RESULTS: Eight sections were defined that finally contained 145 statements with comments. Overall, group consensus was reached in 95.9%, and group agreement in 4.1%. This communication contains the first part consisting of the imaging algorithm for suspected soft tissue tumors, methods for local imaging, and the role of tumor centers. CONCLUSION: Ultrasound represents the initial triage imaging modality for accessible and small tumors. MRI is the modality of choice for the characterization and local staging of most soft tissue tumors. CT is indicated in special situations. In suspicious or likely malignant tumors, a specialist tumor center should be contacted for referral or teleradiologic second opinion. This should be done before performing a biopsy, without exception. CLINICAL RELEVANCE: The updated ESSR soft tissue tumor imaging guidelines aim to provide best practice expert consensus for standardized imaging, to support radiologists in their decision-making, and to improve examination comparability both in individual patients and in future studies on individualized strategies. KEY POINTS: • Ultrasound remains the best initial triage imaging modality for accessible and small suspected soft tissue tumors. • MRI is the modality of choice for the characterization and local staging of soft tissue tumors in most cases; CT is indicated in special situations. Suspicious or likely malignant tumors should undergo biopsy. • In patients with large, indeterminate or suspicious tumors, a tumor reference center should be contacted for referral or teleradiologic second opinion; this must be done before a biopsy.

The Prognostic Relevance of MRI Characteristics in Myxofibrosarcoma Patients Treated with Neoadjuvant Radiotherapy.

To improve local control, neoadjuvant radiotherapy (nRT) followed by surgery is the standard of care in myxofibrosarcoma (MFS) because of its infiltrative growth pattern. Nevertheless, local recurrence rates are high. Data on prognostic factors for poor clinical outcomes are lacking. This retrospective study thus investigates the prognostic relevance of magnetic resonance imaging (MRI) characteristics before and after nRT in 40 MFS patients, as well as their association with disease-free survival (DFS) and overall survival (OS). A vascular pedicle, defined as extra-tumoral vessels at the tumor periphery, was observed in 12 patients (30.0%) pre-nRT and remained present post-nRT in all cases. Patients with a vascular pedicle had worse DFS (HR 5.85; 95% CI 1.56-21.90; p = 0.009) and OS (HR 9.58; 95% CI 1.91-48.00; p = 0.006). An infiltrative growth pattern, referred to as a tail sign, was observed in 22 patients (55.0%) pre-nRT and in 19 patients (47.5%) post-nRT, and was associated with worse DFS post-nRT (HR 6.99; 95% CI 1.39-35.35; p = 0.019). The percentage of tumor necrosis estimated by MRI was increased post-nRT, but was not associated with survival outcomes. The presence of a tail sign or vascular pedicle on MRI could support the identification of patients at risk for poor clinical outcomes after nRT.

Curettage and cryosurgery for enchondroma and atypical cartilaginous tumors of the long bones: Oncological results of a large series.

BACKGROUND AND OBJECTIVES: Intralesional surgical treatment is the preferred therapy for atypical cartilaginous tumors (ACTs) of the long bones in many institutions. However, the literature is still controversial regarding intralesional treatment versus wide resection. Due to the relative rarity of these tumors, studies reporting on the results of intralesional treatment are often small sample studies. METHODS: We retrospectively analyzed the oncological results of 55 enchondromas, 119 ACTs, and 5 chondrosarcomas grade 2 (CS2) treated with curettage and cryosurgery between the years 2004 and 2017 at our institution. The median follow-up period was 53 months (range, 24-169 months). RESULTS: In total, seven cases (three ACT, four CS2) recurred. Residual tumor was detected in 20 cases. Three cases underwent secondary curettage and cryosurgery due to local recurrence. Four cases underwent wide resection and reconstruction due to local recurrence with aggressive imaging characteristics. In total, 20 postoperative complications were seen. CONCLUSION: Curettage and cryosurgery for enchondroma and ACT show very good oncological results with a low recurrence rate and acceptable complication rate. Curettage and cryosurgery is reliable as a surgical treatment for enchondroma and ACT. Further research should define the criteria for determining which specific cartilaginous tumors necessitate surgical treatment.

[Heterotopic ossifications after COVID-19 pneumonia]. / Heterotope ossificatie na een covid-19-pneumonie.

COVID-19 patients admitted to the Intensive Care Unit may develop painful range of motion restrictions of the large joints due to heterotopic ossifications. Here we describe two patients who developed restricted and painful passive and active mobility of the hips, shoulders and elbows after mechanical ventilation because of respiratory failure due to COVID-19 pneumonia. Conventional radiography showed extensive heterotopic ossifications. Retrospectively, alkaline phosphatase levels were elevated. It is likely that local and systemic factors contribute to the development of heterotopic ossifications. Early diagnosis is important to provide complementary non-pharmacological interventions (gentle passive mobilization) and medication (non-steroidal anti-inflammatory drugs, such as indomethacin). If pain and limited joint mobility remain present, surgical removal of ectopic bone could be considered. Future trials are needed to systematically map the prevalence of heterotopic ossifications in COVID-19 patients who were admitted to the Intensive Care Unit, andto evaluate whether prophylactic treatment with non-steroidal anti-inflammatory drug is of relevance.

Can MRI differentiate between atypical cartilaginous tumors and high-grade chondrosarcoma? A systematic review.

Background and purpose - Adequate staging of chondroid tumors at diagnosis is important as it determines both treatment and outcome. This systematic review provides an overview of MRI criteria used to differentiate between atypical cartilaginous tumors (ACT) and high-grade chondrosarcoma (HGCS).Patients and methods - For this systematic review PubMed and Embase were searched, from inception of the databases to July 12, 2018. All original articles describing MRI characteristics of pathologically proven primary central chondrosarcoma and ACT were included. A quality appraisal of the included papers was performed. Data on MRI characteristics and histological grade were extracted by 2 reviewers. Meta-analysis was performed if possible. The study is registered with PROSPERO, CRD42018067959.Results - Our search identified 2,132 unique records, of which 14 studies were included. 239 ACT and 140 HGCS were identified. The quality assessment showed great variability in consensus criteria used for both pathologic and radiologic diagnosis. Due to substantial heterogeneity we refrained from pooling the results in a meta-analysis and reported non-statistical syntheses. Loss of entrapped fatty marrow, cortical breakthrough, and extraosseous soft tissue expansion appeared to be present more often in HGCS compared with ACT.Interpretation - This systematic review provides an overview of MRI characteristics used to differentiate between ACT and HGCS. Future studies are needed to develop and assess more reliable imaging methods and/or features to differentiate ACT from HGCS.

Multifocal occurrence of extra-abdominal desmoid type fibromatosis - A rare manifestation. A clinicopathological study of 6 sporadic cases and 1 hereditary case.

Desmoid-type fibromatosis, also called desmoid tumor, is a locally aggressive myofibroblastic neoplasm that usually arises in deep soft tissue with significant potential for local recurrence. It displays an unpredictable clinical course. ß-Catenin, the genetic key player of desmoid tumors shows nuclear accumulation due to mutations that prevent its degradation leading to activation of Wnt signaling and myofibroblastic cell proliferation. The corresponding hot spot mutations are located in exon 3 of the CTNNB1 gene or alternatively, in the APC tumor suppressor gene, most often as a germline mutation. Multifocal desmoid tumors are very rare and clinical characteristics are poorly understood. Here we present six sporadic and one familial case of multifocal desmoid tumors. Four female and three male patients, aged between 7 and 30 years (mean 18.4 years) were identified in a cohort of 1392 cases. Tumors were located in (distal) extremities, thorax, breast, abdominal wall, shoulder, and neck. Four cases showed a CTNNB1 mutation and one an APC germline mutation. In two sporadic cases no CTNNB1 mutation was identified. Four patients showed (multiple) recurrences and one patient was lost to follow-up. In conclusion, multifocal desmoid tumors are a very rare disease and may occur in sporadic cases that are characterized by recurrent CTNNB1 mutations. However, the underlying pathogenesis of multifocal desmoid tumors remains poorly understood with often aggressive clinical behavior and challenging therapeutical management.

Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst.

Myositis ossificans is defined as a self-limiting pseudotumor composed of reactive hypercellular fibrous tissue and bone. USP6 rearrangements have been identified as a consistent genetic driving event in aneurysmal bone cyst and nodular fasciitis. It is therefore an integral part of the diagnostic workup when dealing with (myo)fibroblastic lesions of soft tissue and bone. Two cases of myositis ossificans with USP6 rearrangement were published so far. We determine herein the incidence of USP6 rearrangement in myositis ossificans using USP6 fluorescence in situ hybridization analysis (FISH). Of the 11 cases included, seven patients were female and four were male. Age ranged from 6 to 56 years (mean 27 years). Lesions were located in the thigh (n = 5), knee (n = 1), lower leg (n = 1), lower arm (n = 1), perineum (n = 1), gluteal (n = 1) and thoracic wall (n = 1). All assessable cases except one (8/9) showed rearrangement of USP6 providing evidence that myositis ossificans is genetically related to nodular fasciitis and aneurysmal bone cyst.

The diagnostic value of 18F-FDG-PET/CT and MRI in suspected vertebral osteomyelitis - a prospective study.

PURPOSE: The aim of this study was to determine the diagnostic value of 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (PET/CT) and magnetic resonance imaging (MRI) in diagnosing vertebral osteomyelitis. METHODS: From November 2015 until December 2016, 32 patients with suspected vertebral osteomyelitis were prospectively included. All patients underwent both 18F-FDG-PET/CT and MRI within 48 h. All images were independently reevaluated by two radiologists and two nuclear medicine physicians who were blinded to each others' image interpretation. 18F-FDG-PET/CT and MRI were compared to the clinical diagnosis according to international guidelines. RESULTS: For 18F-FDG-PET/CT, sensitivity, specificity, PPV, and NPV in diagnosing vertebral osteomyelitis were 100%, 83.3%, 90.9%, and 100%, respectively. For MRI, sensitivity, specificity, PPV, and NPV were 100%, 91.7%, 95.2%, and 100%, respectively. MRI detected more epidural/spinal abscesses. An important advantage of 18F-FDG-PET/CT is the detection of metastatic infection (16 patients, 50.0%). CONCLUSION: 18F-FDG-PET/CT and MRI are both necessary techniques in diagnosing vertebral osteomyelitis. An important advantage of 18F-FDG-PET/CT is the visualization of metastatic infection, especially in patients with bacteremia. MRI is more sensitive in detection of small epidural abscesses.

A comparison of the diagnostic value of MRI and 18F-FDG-PET/CT in suspected spondylodiscitis.

PURPOSE: The purpose of this study was to evaluate the diagnostic value of 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (PET/CT scan) and magnetic resonance imaging (MRI) in diagnosing spondylodiscitis and its complications, such as epidural and paraspinal abscesses. METHODS: From January 2006 to August 2013 patients with a clinical suspicion of spondylodiscitis, with an infection, or with fever of unknown origin were retrospectively included if 18F-FDG-PET/CT and MRI of the spine were performed within a 2-week time span. Imaging results were compared to the final clinical diagnosis and follow-up data were collected. RESULTS: Sixty-eight patients were included of whom 49 patients were diagnosed with spondylodiscitis. MRI showed an overall sensitivity of 67 % and specificity of 84 %. Diagnostic accuracy was 58 %, when MRI was performed within 2 weeks after the start of symptoms and improved to 82 %, when performed more than 2 weeks after onset of symptoms. 18F-FDG-PET/CT showed a sensitivity of 96 % and a specificity of 95 %, with no relation to the interval between the scan and the start of symptoms. CONCLUSIONS: As compared to MRI, 18F-FDG-PET/CT has superior diagnostic value for detecting early spondylodiscitis. After 2 weeks both techniques perform similarly.

Radiologic follow-up of untreated enchondroma and atypical cartilaginous tumors in the long bones.

BACKGROUND AND OBJECTIVES: Both enchondroma and atypical cartilaginous tumors (ACT) are not considered malignant, so inactive and asymptomatic tumors might not need surgery. To the best of our knowledge, this is the first study that has been done to evaluate the natural course of conservative-treated enchondroma and ACT in the long bones. METHODS: For this retrospective study, we analyzed the results of patients in whom we refrained from surgery and only regularly performed radiological follow-up of the tumor. Minimal follow-up after initial diagnosis was 24 months. RESULTS: Forty-nine patients were included in this study. Eight out of forty-nine cases received surgical treatment during follow-up of the tumor. The reasons for this surgery were radiologic growth of the tumor in two cases, pain in one case, patient request in three cases, another indication for surgery in the same limb in two cases. CONCLUSION: In this small series of conservatively treated enchondroma and ACT, only 6% of the patients had a medical indication for surgery. This study shows that indication for surgery should be discussed more thoroughly. Based on our results, we would recommend annual radiologic follow-up for asymptomatic enchondroma or ACT in the long bones, irrespective of tumor size. J. Surg. Oncol. 2016;114:987-991. © 2016 Wiley Periodicals, Inc.

Synovial sarcoma of the abdominal wall: Imaging findings and review of the literature.

Synovial sarcoma is the fourth most common type of soft-tissue sarcoma (following undifferentiated pleomorphic sarcoma, liposarcoma, and rhabdomyosarcoma), and should be considered a high-grade neoplasm with a high number of local recurrences and late metastases. Synovial sarcoma predominantly occurs in adolescents and young adults, and typically arises near the joints of the lower extremity. However, this tumor can also occur at uncommon sites such as the abdominal wall, which is illustrated in this article. Furthermore, we reviewed the available literatures on the clinical, pathological and radiological appearances, as well as the current knowledge concerning treatment options and prognosis.

Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.

Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, the downstream mechanisms causing FSHD are not understood. The objective of this study was to determine natural disease state and progression in muscles of FSHD patients and to establish diagnostic biomarkers by quantitative MRI of fat infiltration and phosphorylated metabolites. MRI was performed at 3T with dedicated coils on legs of 41 patients (28 men/13 women, age 34-76 years), of which eleven were re-examined after four months of usual care. Muscular fat fraction was determined with multi spin-echo and T1 weighted MRI, edema by TIRM and phosphorylated metabolites by 3D (31)P MR spectroscopic imaging. Fat fractions were compared to clinical severity, muscle force, age, edema and phosphocreatine (PCr)/ATP. Longitudinal intramuscular fat fraction variation was analyzed by linear regression. Increased intramuscular fat correlated with age (p<0.05), FSHD severity score (p<0.0001), inversely with muscle strength (p<0.0001), and also occurred sub-clinically. Muscles were nearly dichotomously divided in those with high and with low fat fraction, with only 13% having an intermediate fat fraction. The intramuscular fat fraction along the muscle's length, increased from proximal to distal. This fat gradient was the steepest for intermediate fat infiltrated muscles (0.07±0.01/cm, p<0.001). Leg muscles in this intermediate phase showed a decreased PCr/ATP (p<0.05) and the fastest increase in fatty infiltration over time (0.18±0.15/year, p<0.001), which correlated with initial edema (p<0.01), if present. Thus, in the MR assessment of fat infiltration as biomarker for diseased muscles, the intramuscular fat distribution needs to be taken into account. Our results indicate that healthy individual leg muscles become diseased by entering a progressive phase with distal fat infiltration and altered energy metabolite levels. Fat replacement then relatively rapidly spreads over the whole muscle.

F-18 FDG PET/CT as a crucial guide toward optimal treatment planning in a case of postirradiation sarcoma 10 years after primary bone lymphoma of the pelvis.

Ten years after chemoradiation for primary lymphoma of the left pelvic bone, a 38-year-old man presented with a 4-month history of gradually increasing pain in his left upper leg and thigh. Initial radiographs and contrast-enhanced magnetic resonance imaging were consistent with recurrent lymphoma, infection, or postirradiation sarcoma. Subsequent F-18 fluorodeoxyglucose positron emission tomography/computed tomography demonstrated a focal area of F-18 fluorodeoxyglucose-avidity within the previously irradiated bone consistent with tumor and the location was confirmed by advanced magnetic resonance imaging techniques and histopathology, thus optimizing treatment planning.

Role of radiography, MRI and FDG-PET/CT in diagnosing, staging and therapeutical evaluation of patients with multiple myeloma.

Multiple myeloma is a malignant B-cell neoplasm that involves the skeleton in approximately 80% of the patients. With an average age of 60 years and a 5-years survival of nearly 45% Brenner et al. (Blood 111:2516-2520,35) the onset is to be classified as occurring still early in life while the disease can be very aggressive and debilitating. In the last decades, several new imaging techniques were introduced.The aim of this review is to compare the different techniques such as radiographic survey, multidetector computed tomography (MDCT), whole-body magnetic resonance imaging (WB-MRI), fluorodeoxyglucose positron emission tomography-(FDG-PET) with or without computed tomography(CT), and 99mTc-methoxyisobutylisonitrile (99mTc-MIBI) scintigraphy. We conclude that both FDG-PET in combination with low-dose CT and whole-body MRI are more sensitive than skeleton X-ray in screening and diagnosing multiple myeloma. WB-MRI allows assessment of bone marrow involvement but cannot detect bone destruction, which might result in overstaging. Moreover,WB-MRI is less suitable in assessing response to the rapythan FDG-PET. The combination of PET with low-dose CT can replace the golden standard, conventional skeletal survey. In the clinical practise, this will result in upstaging,due to the higher sensitivity.

Bone-anchored hearing aid implant location in relation to skin reactions.

OBJECTIVE: To evaluate the effect of implant location and skin thickness on the frequency and degree of adverse skin reactions around the abutment. DESIGN: Retrospective multivariate analysis of implant position related to skin thickness and clinical variables. SETTING: Tertiary referral center. PATIENTS: Random sample of 248 patients with bone-anchored hearing aids. INTERVENTIONS: Bone-anchored hearing aid implant placement by means of the linear incision technique. MEAN OUTCOME MEASURES: Type and number of skin reactions and implant loss. RESULTS: The mean (SD) distance from the external auditory ear canal to implant was 48.8 (8.0) mm (range, 29-84 mm). The mean skin thickness was 5.5 (1.9) mm. Severe skin reactions (Holgers classification, 2-4) were seen in 46 of the 248 patients (18.5%). Implant loss occurred in 4 patients (1.6%). Three implants were lost owing to failed osseointegration (1.3%), and another implant was removed because of deterioration of cochlear function (0.9%). No implant was lost as a result of infection. CONCLUSION: Implant location and skin thickness were not correlated with implant loss or the frequency or degree of adverse skin reactions around the abutment.

The cryosurgical treatment of chondroblastoma of bone: long-term oncologic and functional results.

BACKGROUND: Chondroblastoma of bone is a rare tumor that occurs most often in the epiphysis or apophysis of long bones. This benign tumor sometimes shows aggressive or malignant behaviour, and rarely metastases occur. Since wide resection often leads to growth impairment, intra-lesional curettage followed by an adjuvant therapy is developed to decrease the negative effects on growth and function without increased recurrence rates. PATIENTS AND METHODS: Between 1980 and 2001, 18 patients were treated for chondroblastoma of bone. Since 1989 cryosurgery has been used as an adjuvant treatment. The functional and oncologic results at follow-up were studied. RESULTS: Four patients were treated with curettage, and four with wide resection without adjuvant therapy. One patient developed a local recurrence and distant metastases. Ten patients were treated with curettage and cryosurgery. One patient developed a local recurrence 6 years later that was treated with curettage and cryosurgery again. No serious complications from cryosurgery occurred and the functional results at follow-up were excellent [mean MSTS score at follow-up 29]. CONCLUSIONS: Chondroblastoma of bone is a benign tumor with a relatively high recurrence rate. The local recurrence rates can be decreased with cryosurgery as a local adjuvant therapy with excellent functional results.