Extraskeletal Myxoid Chondrosarcomas: The Uncommon Clinicopathologic Manifestations and Significance of TAF15::NR4A3 Fusion.

Extraskeletal myxoid chondrosarcoma (EMC) is an ultrarare sarcoma typically exhibiting myxoid/reticular histology and NR4A3 translocation. However, morphologic variants and the relevance of non-EWSR1::NR4A3 fusions remain underexplored. Three challenging pan-Trk-expressing cases, featuring cellular to solid histology, were subjected to RNA exome sequencing (RES), unveiling different NR4A3-associated fusions. Alongside RES-analyzed cases, fluorescence in situ hybridization was performed to confirm 58 EMCs, with 48 available for pan-Trk immunostaining and KIT sequencing. Except for 1 (2%) NR4A3-rearranged EMC without identifiable partners, 46 (79%), 9 (16%), and 2 (3%) cases harbored EWSR1::NR4A3, TAF15::NR4A3, and TCF12::NR4A3 fusions, respectively. Five EWSR1::NR4A3-positive EMCs occurred in the subcutis (3) and bone (2). Besides 43 classical cases, there were 8 cellular, 4 rhabdoid/anaplastic, 2 solid, and 1 mixed tumor-like variants. Tumor cells were oval/spindle to pleomorphic and formed loose myxoid/reticular to compact sheet-like or fascicular patterns, imparting broad diagnostic considerations. RES showed upregulation of NTRK2/3, KIT, and INSM1. Moderate-to-strong immunoreactivities of pan-Trk, CD117, and INSM1 were present in 35.4%, 52.6%, and 54.6% of EMCs, respectively. KIT p. E554K mutation was detected in 2/48 cases. TAF15::NR4A3 was significantly associated with size >10 cm (78%, P = .025). Size >10 cm, moderate-to-severe nuclear pleomorphism, metastasis at presentation, TAF15::NR4A3 fusion, and the administration of chemotherapy portended shorter univariate disease-specific survival, whereas only size >10 cm (P = .004) and metastasis at presentation (P = .032) remained prognostically independent. Conclusively, EMC may manifest superficial or osseous lesions harboring EWSR1::NR4A3, underrecognized solid or anaplastic histology, and pan-Trk expression, posing tremendous challenges. Most TAF15::NR4A3-positive cases were >10 cm in size, ie, a crucial independent prognosticator, whereas pathogenic KIT mutation rarely occurred.

Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract.

Phosphaturic mesenchymal tumors (PMT) are uncommon neoplasms that cause hypophosphatemia/osteomalacia mainly by secreting fibroblast growth factor 23. We previously identified FN1::FGFR1/FGF1 fusions in nearly half of the PMTs and frequent KL (Klotho or α-Klotho) overexpression in only those with no known fusion. Here, we studied a larger cohort of PMTs for KL expression and alterations. By FN1 break-apart fluorescence in situ hybridization (FISH) and reappraisal of previous RNA sequencing data, 6 tumors previously considered "fusion-negative" (defined by negative results of FISH for FN1::FGFR1 fusion and FGF1 break-apart and/or of RNA sequencing) were reclassified as fusion-positive PMTs, including 1 containing a novel FN1::ZACN fusion. The final cohort of fusion-negative PMTs included 33 tumors from 32 patients, which occurred in the bone (n = 18), soft tissue (n = 10), sinonasal tract (n = 4), and brain (n = 1). In combination with previous work, RNA sequencing, RNA in situ hybridization, and immunohistochemistry showed largely concordant results and demonstrated KL/α-Klotho overexpression in 17 of the 28 fusion-negative and none of the 10 fusion-positive PMTs studied. Prompted by a patient in this cohort harboring germline KL upstream translocation with systemic α-Klotho overexpression and multifocal PMTs, FISH was performed and revealed KL rearrangement in 16 of the 33 fusion-negative PMTs (one also with amplification), including 14 of the 17 cases with KL/α-Klotho overexpression and none of the 11 KL/α-Klotho-low fusion-negative and 11 fusion-positive cases studied. Whole genomic sequencing confirmed translocation and inversion in 2 FISH-positive cases involving the KL upstream region, warranting further investigation into the mechanism whereby these rearrangements may lead to KL upregulation. Methylated DNA immunoprecipitation and sequencing suggested no major role of promoter methylation in KL regulation in PMT. Interestingly, KL-high/-rearranged cases seemed to form a clinicopathologically homogeneous group, showing a predilection for skeletal/sinonasal locations and typically matrix-poor, cellular solitary fibrous tumor-like morphology. Importantly, FGFR1 signaling pathways were upregulated in fusion-negative PMTs regardless of the KL status compared with non-PMT mesenchymal tumors by gene set enrichment analysis, perhaps justifying FGFR1 inhibition in treating this subset of PMTs.

Adult NTRK-rearranged spindle cell neoplasms of the viscera: with an emphasis on rare locations and heterologous elements.

NTRK-rearranged mesenchymal neoplasms mostly affect the soft tissues of pediatric patients. Given the responsiveness to selective NTRK inhibitors, it remains critical to identify those ultra-rare cases occurring in the viscera of adults. In five females and two males aged 18-53 years, we characterized visceral mesenchymal tumors harboring TPM3-NTRK1 [uterine cervix (N = 2), pleura, prostate], LMNA-NTRK1 (lung), SQSTM1-NTRK3 (heart), and NTRK3 rearrangement with unknown fusion partner (colon/mesocolon) with RNA sequencing, FISH, RT-PCR, and immunohistochemistry. The tumors exhibited spindled to ovoid/epithelioid or pleomorphic cells, often arranged in fascicles, and were low-to-intermediate-grade and high-grade in three and four cases, respectively. Keloid-like stromal collagen and perivascular hyalinization was noted in five. Adenosarcoma-like appearances were observed in two, manifesting frond-like protrusions in one cervical tumor and phyllodes-like architecture in the prostatic tumor. Abrupt high-grade transformation into pleomorphic liposarcoma was found in another cervical tumor, while the pleural tumor contained intermixed rhabdomyoblasts. Pan-TRK immunostaining was positive in all cases. All cases expressed CD34, while five were S100-positive. CDKN2A homozygous deletion with concomitant p16 loss occurred in 4/7. Whole-exome sequencing identified TP53 mutation (c.672+2T>C, involving a splice site, with concomitant protein loss) in a cervical sarcoma, limited to its heterologous liposarcomatous component. At least moderate pan-TRK immunoreactivity was present in varying proportions of potential pathologic mimics, with BCOR-positive sarcoma (56%, 5/9), undifferentiated uterine sarcoma (50%, 3/6), and spindle cell/sclerosing rhabdomyosarcoma (33%, 2/6) being among the most frequent. This underscored the unsatisfactory specificity of pan-TRK immunohistochemistry and warranted molecular confirmation in the diagnosis of adult NTRK-rearranged visceral mesenchymal neoplasms. The current report highlights the ever-expanding clinicopathologic and genetic spectrum of this entity by describing the unprecedented cardiac and pleural locations and heterologous differentiation, as well as the second NTRK-rearranged "prostatic stromal sarcoma," while substantiating CDKN2A deletion as a frequent occurrence.

Clinicopathological and molecular characterisation of USP6-rearranged soft tissue neoplasms: the evidence of genetic relatedness indicates an expanding family with variable bone-forming capacity.

AIMS: USP6 rearrangement underpins self-limiting fibroblastic/myofibroblastic neoplasms, including nodular fasciitis (NF), myositis ossificans (MO), aneurysmal bone cyst (ABC), and related variants. The aim of this study was to characterise UPS6 and fusion partners in order to delineate the clinicopathological, genetic and bone-forming features in such lesions of soft tissue (ST). METHODS AND RESULTS: Break-apart fluorescence in-situ hybridisation (FISH) validated USP6 rearrangement in 31 of 35 NF [comprising three of three fasciitis ossificans (FO) cases, seven of eight cellular variant of fibroma of tendon sheath (C-FTS), four of six MO, three of three ST-ABC, and two of two fibro-osseous pseudotumours of digits (FOPD)]. As determined with FISH and reverse transcription polymerase chain reaction, MYH9-USP6 was the commonest fusion in four C-FTS and 20 NF, including one intravascular case and two infantile (one retroperitoneal) cases. The presence of MYH9-USP6 confirmed the diagnosis of two NFs> 50 mm with prominent ischaemic necrosis. COL1A1-USP6 was predominant in ossifying lesions, including all FO, MO, ST-ABC and FOPD with identified partner genes, and was also present in non-ossifying head and neck NF (HN-NF) and C-FTS in two cases each. A cervical NF of a 14-month-old girl harboured the novel COL1A2-USP6. Ossifying lesions showed considerable genetic and morphological overlaps. Sharing COL1A1-USP6, FO and FOPD showed similar central or haphazard bone matrix deposition. Besides zonation of outward bone maturation, four COL1A1-USP6-positive MO had incipient to sieve-like pseudocysts reminiscent of ST-ABC. CONCLUSION: MYH9-USP6 is present in some C-FTS and most NF, including rare variants, but is unrelated to bone formation. All bone-forming USP6-rearranged lesions adopt COL1A1 as the 5' partner, indicating close genetic kinships. However, COL1A1/COL1A2 also contributes to the pathogenesis of minor subsets of non-ossifying USP6-rearranged HN-NF and C-FTS.

Controlling T2 blurring in 3D RARE arterial spin labeling acquisition through optimal combination of variable flip angles and k-space filtering.

PURPOSE: To improve the SNR efficiency and reduce the T2 blurring of 3D rapid acquisition with relaxation enhancement stack-of-spiral arterial spin labeling imaging by using variable refocusing flip angles and k-space filtering. METHODS: An algorithm for determining the optimal combination of variable flip angles and filtering correction is proposed. The flip angles are designed using extended phase graph physical simulations in an analytical and global optimization framework, with an optional constraint on deposited power. Optimal designs for correcting to Hann and Fermi window functions were compared with conventional constant amplitude or variable flip angle only designs on 6 volunteers. RESULTS: With the Fermi window correction, the proposed optimal designs provided 39.8 and 27.3% higher SNR (P < .05) than conventional constant amplitude and variable flip angle designs. Even when power deposition was limited to 50% of the constant amplitude design, the proposed method outperformed the SNR (P < .05) of these 2 conventional approaches by 32.5 and 20.7%. The sharpness and the contrast between gray and white matter were improved with the k-space filtering correction for all of the flip angle designs. The improvements were moderate for the Hann window correction. CONCLUSION: This work demonstrates that variable flip angles can be derived as the output of an optimization problem. The combined design of variable flip angle and k-space filtering provided superior SNR to designs primarily emphasizing either approach singly.

Effect of sarcopenia on clinical and surgical outcome in elderly patients with proximal femur fractures.

PURPOSE: To investigate the relationship between sarcopenia with short-term surgical outcome in elderly patients with proximal femur fractures. METHODS AND MATERIALS: Following Institutional Review Board approval, a database of patients receiving a pelvis CT scan for acute trauma between January 2000-August 2016 was screened for an isolated proximal femur fracture. Patients were excluded if they were: < 50 years old, had conditions predisposing to sarcopenia (renal failure, congestive heart failure, muscular dystrophies), had undergone no surgical treatment, had other major traumatic injuries, or had a pathologic femur fracture. The paraspinal muscle density (PSD) at the L4 level was measured in Hounsfield units. The skeletal muscle index (SMI) was measured as the total skeletal muscle area at L4 divided by patient height.2 PSD and SMI were tested for association with surgical outcome measures: length of hospital stay, perioperative mortality, medical complications, in-hospital blood transfusion volume, and 90-day readmission rate, using multiple variable regression analysis. Pearson correlation of PSD and SMI was performed. RESULTS: Controlling for age, gender, body mass index (BMI), and fracture type, low PSD and SMI were both independently associated with longer length of hospitalization (p = 0.008 and p = 0.032, respectively). Low PSD was associated with a higher amount of blood transfusion volume during the perioperative period (p = 0.004). Pearson correlation revealed moderate positive correlation between the SMI and PSD (r = 0.579, p < 0.001). CONCLUSION: In proximal femur fractures, elderly patients with sarcopenia are more likely to have prolonged hospitalization following surgery and require more blood transfusion volume during the perioperative period.

MRI guided needle localization in a patient with recurrence pleomorphic sarcoma and post-operative scarring.

MRI-guided wire localization is commonly used for surgical localization of breast lesions. Here we introduce an alternative use of this technique to help with surgical resection of a recurrent pleomorphic sarcoma embedded in extensive post-treatment scar tissue. We describe a case of recurrent pleomorphic soft tissue sarcoma in the thigh after treatment with neoadjuvant therapy, surgery, and radiation. Due to the distortion of the normal tissue architecture and formation of extensive scar tissue from prior treatment, wire localization under MRI was successfully used to assist the surgeon in identifying the recurrent tumor for removal.

Transcatheter arterial embolization as first-line rescue in intractable primary postpartum hemorrhage: Assessment, outcome, and subsequent fertility.

BACKGROUND/PURPOSE: To assess the risk factors for intractable and controllable postpartum hemorrhage (PPH) and to evaluate the safety, efficacy, and outcome of transcatheter arterial embolization (TAE). METHODS: An emergency PPH rescue system including the 24-hour-available TAE was established in 2004. TAE with gelatine sponge particles placed on bilateral uterine or internal iliac arteries served as the first-line treatment for intractable PPH. Delivery methods, parity, causes of bleeding, clinical vital signs, coagulopathy, success rate, resumption of menstruation, and subsequent pregnancy outcome after TAE were recorded. RESULTS: From the years 2005 to 2013, 301 women experienced PPH, of whom 178 had controllable PPH and 123 intractable PPH. Tachycardia and disseminated intravascular coagulation were significant risk factors for intractable PPH. All of the women with intractable PPH underwent TAE, and 89 (72.3%) were transferred by ground transport to receive treatment in this system. The mean travel distance was 15 km ± 12.5 km. The mean time of order to angiography room was 24.9 minutes ± 14.2 minutes. The mean blood loss before TAE was 2247 mL ± 1482 mL (range, 900-11,110 mL). The first TAE successfully controlled bleeding in 118 of the 123 (95.9%) women with intractable PPH. Of the 70 women with complete follow-up, 69 (98.6%) recovered menstruation. Twenty-three women tried to get pregnant and 19 (82.6%) of them succeeded, giving birth to 12 full-term live infants. CONCLUSION: TAE was safe and effective in treating intractable primary PPH with a high success rate and preservation of menstruation and fertility.

Structural deficits and cognitive impairment in tuberculous meningitis.

BACKGROUND: Chronic neuropsychological sequelae may occur in patients with tuberculous meningitis (TBM). The impact of structural abnormalities on the clinical performance of patients with TBM is unknown. This study applied the Diffeomorphic Anatomical Registration Through Exponentiated Lie Algebra (DARTEL) voxel-based morphometry (VBM) to determine if gray matter deficits in TBM are associated with acute presentations and chronic cognitive impairment. METHODS: Seventeen patients with TBM who discontinued their anti-TB therapy for more than six months, and 17 age-, sex-, and education-matched healthy subjects were enrolled. Differences in gray matter volume (GMV) between patients and healthy controls were investigated using DARTEL-VBM to determine structural abnormalities. Disease severity during the acute stage was scored by clinical profiles and conventional imaging findings. Correlations among chronic structural deficits, cognitive impairment, and initial disease severity were assessed. RESULTS: The patients with TBM had worse neuropsychological subtest performances than the healthy controls. Compared to the controls, the patients showed smaller GMVs in the right thalamus, right caudate nucleus, right superior and middle temporal gyrus, right precuneus, and left putamen (p < 0.001). The smaller GMVs in the right thalamus, right superior temporal gyrus, right precuneus, left putamen, and right caudate nucleus (p < 0.05) were further associated with worse cognitive function. More severe initial disease also correlated with smaller GMVs in the right caudate nucleus (p < 0.05). CONCLUSION: Multiple domain cognitive impairment may persist in patients with chronic TBM even after appropriate treatment. Worse initial disease severity may contribute to the vulnerability of brain tissue to damage, with subsequent neuropsychological consequences.

Short-term clinical outcomes of transarterial embolization for symptomatic hand osteoarthritis refractory to conservative treatment.

PURPOSE: The present study aims to assess the short-term clinical outcomes and safety of transarterial embolization (TAE) for symptomatic hand osteoarthritis (OA) refractory to conservative treatment. METHODS: The present retrospective cohort pilot study included nine patients who underwent TAE for symptomatic OA-associated hand pain in a single tertiary center between November 2022 and January 2023. The baseline and post-procedural OA-associated hand pain and function were assessed using the visual analog scale (VAS) and the Australian Canadian Hand Osteoarthritis Index (AUSCAN). The use of conservative treatment and pain medications was also recorded. Post-procedural adverse events were evaluated according to the Society of Interventional Radiology classification. RESULTS: Compared with the baseline, the overall VAS scores were significantly decreased at 1-week, 1-month, 3-months, and 6-months after TAE (76 ± 15 mm versus 34 ± 18 mm, P < 0.001; 32 ± 11 mm, P < 0.001; 21 ± 15 mm, P < 0.001; 18 ± 19 mm, P = 0.002). Similarly, improvement in the mean total AUSCAN scores (22.0 ± 10.0 versus 13.2 ± 6.6, P = 0.007; 14.11 ± 7.3, P = 0.004; 9.8 ± 6.8, P = 0.004; 9.3 ± 7.4, P = 0.011) were documented. The use of other conservative treatment methods also gradually decreased. There were no severe adverse events reported during the follow-up period. CONCLUSION: TAE is a feasible and safe treatment method for symptomatic hand OA refractory to conservative treatment. This minimally invasive procedure effectively relieves debilitating OA-associated joint pain and restores hand function with a durable treatment effect.

Psoas muscle area as a predictor of low muscle mass in Asian patients with compensated advanced chronic liver disease.

PURPOSE: The relationship between the psoas muscle index (PMI) and the appendicular skeletal muscle index (ASMI) in patients with compensated advanced chronic liver disease (cACLD) is not yet understood. Our goal is to determine which level of the lumbar spine best represents the appendicular skeletal muscle. METHODS AND MATERIALS: This retrospective study involved patients with cACLD between January 2020 and December 2021. We documented the patients' body weight, height, gait speed, handgrip strength, appendicular skeletal muscle measured by DXA, and psoas muscle area segmented on computed tomography or magnetic resonance imaging. Low muscle mass, as defined by the Asian working group for sarcopenia, is less than 7.0 kg/m2 in males and less than 5.4 kg/m2 in females. We analyzed the correlation between PMI and ASMI. RESULTS: A total of 134 patients were enrolled in the study, with 74 being male and 60 being female. The mean age was 63.9 ± 7.7 years old. Significant associations (p < 0.001) were found between PMI of all levels and ASMI. In the analysis of Pearson's correlation coefficients, it was noted that the r value increased gradually in both males (r = 0.3197 at L2, 0.4006 at L3, 0.5769 at L4) and females (r = 0.3771 at L2, 0.4557 at L3, 0.5251 at L4). Similarly, the area under the curve (AUC) values predicting low muscle mass were as follows: for males, AUC=0.582 at L2, 0.619 at L3, 0.728 at L4; for females, AUC=0.685 at L2, 0.733 at L3, 0.744 at L4. The cut-off point for PMI in males was 4.12 at L2, 6.25 at L3, and 8.48 at L4, while in females was 2.61 at L2, 4.47 at L3, 6.07 at L4. CONCLUSION: The Psoas muscle index can be used to assess the muscle mass status in patients with cACLD. Among the various levels that can be used, we recommend using the fourth inferior endplate of the lumbar spine, as it shows the highest correlation. Additionally, we suggest using a PMI cut-off point of 8.48 cm2/m2 for males and 6.07 cm2/m2 for females as a predictor of low muscle mass in Asian.

Deep Learning-Based Surgical Treatment Recommendation and Nonsurgical Prognosis Status Classification for Scaphoid Fractures by Automated X-ray Image Recognition.

Biomedical information retrieval for diagnosis, treatment and prognosis has been studied for a long time. In particular, image recognition using deep learning has been shown to be very effective for cancers and diseases. In these fields, scaphoid fracture recognition is a hot topic because the appearance of scaphoid fractures is not easy to detect. Although there have been a number of recent studies on this topic, no studies focused their attention on surgical treatment recommendations and nonsurgical prognosis status classification. Indeed, a successful treatment recommendation will assist the doctor in selecting an effective treatment, and the prognosis status classification will help a radiologist recognize the image more efficiently. For these purposes, in this paper, we propose potential solutions through a comprehensive empirical study assessing the effectiveness of recent deep learning techniques on surgical treatment recommendation and nonsurgical prognosis status classification. In the proposed system, the scaphoid is firstly segmented from an unknown X-ray image. Next, for surgical treatment recommendation, the fractures are further filtered and recognized. According to the recognition result, the surgical treatment recommendation is generated. Finally, even without sufficient fracture information, the doctor can still make an effective decision to opt for surgery or not. Moreover, for nonsurgical patients, the current prognosis status of avascular necrosis, non-union and union can be classified. The related experimental results made using a real dataset reveal that the surgical treatment recommendation reached 80% and 86% in accuracy and AUC (Area Under the Curve), respectively, while the nonsurgical prognosis status classification reached 91% and 96%, respectively. Further, the methods using transfer learning and data augmentation can bring out obvious improvements, which, on average, reached 21.9%, 28.9% and 5.6%, 7.8% for surgical treatment recommendations and nonsurgical prognosis image classification, respectively. Based on the experimental results, the recommended methods in this paper are DenseNet169 and ResNet50 for surgical treatment recommendation and nonsurgical prognosis status classification, respectively. We believe that this paper can provide an important reference for future research on surgical treatment recommendation and nonsurgical prognosis classification for scaphoid fractures.

Pedunculated subserosal leiomyoma with torsion, a rare cause of abdominal pain: A case report.

INTRODUCTION: Acute abdominal pain caused by torsion of the pedunculated subserosal leiomyoma is rare. Miss diagnosis can lead to ischemia, necrosis, and subsequent peritonitis which may cause significant morbidity. Torsion of the leiomyoma should be recognized as a surgical emergency and once suspected, early surgical intervention should be considered. PATIENT CONCERNS: A 28-year-old woman with a medical history of uterine leiomyoma presented to our emergency department because of acute onset right lower abdominal pain. DIAGNOSES: The computed tomography was performed which demonstrated multiple leiomyomas of variable sizes and a subserosal leiomyoma located at right lower abdomen with poor contrast enhancement. INTERVENTIONS: The gynecologist was consulted, and myomectomy was performed. The intraoperative finding showed a pedunculated subserosal leiomyoma with torsion. OUTCOMES: She underwent myomectomy for the twisted pedunculated subserosal leiomyoma as well as other leiomyomas and was discharged with a favorable outcome. CONCLUSIONS: Torsion of the leiomyoma is a surgical emergency as delayed in treatment may lead to marked morbidity. Once suspected, the gynecologist must be consulted, and surgical intervention should be considered.

Inferior mesenteric artery arteriovenous malformation, a rare cause of ischemic colitis: A case report.

RATIONALE: An arteriovenous malformation (AVM) is an abnormal tangle of blood vessels that connects the arteries and the veins. Because normal capillary bed is partially or completely absented in the AVM, the blood passes quickly from the arteries to the veins, which disrupts normal blood flow and oxygen supply to the surrounding tissues. This is called "steal phenomenon," and in the inferior mesenteric artery (IMA) territory, this may lead to abdominal pain, gastrointestinal bleeding, portal hypertension, and even ischemic colitis. PATIENT CONCERNS: A 67-year-old man presented to our emergency department because of left side abdominal pain. DIAGNOSES: The abdominal computed tomography with contrast enhancement revealed a cluster of abnormal vascular lesions abutting the IMA with early opacification of the left colonic marginal vein. In addition, poor enhancement of segmental colonic wall was found from proximal descending colon to middle rectum. The diagnosis of AVM of the IMA and ischemic colitis was made. INTERVENTIONS: The patient underwent left hemicolectomy as well as the AVM resection. OUTCOMES: He was discharged uneventfully after the surgery without complications. LESSONS: IMA AVM carries the risk of ischemic colitis. computed tomography scan is helpful not only to the diagnosis of AVMs but also to exclude other lesions as well. Treatment options include endovascular embolization, surgical intervention, and a combination of both. Due to the complexity of this disease, treatment requires a case-specific multidisciplinary approach and a coordination of medical, radiological, and surgical staffs.

Successful treatment of phlegmasia cerulea dolens with percutaneous thrombectomy and catheter-directed thrombolysis: A case report.

INTRODUCTION: Phlegmasia cerulea dolens (PCD) is an uncommon condition of acute deep vein thrombosis, characterized by marked swelling of the affected limb with pain and cyanosis. High mortality and morbidity rates have been reported. Early diagnosis, quick and effective treatment are crucial for preventing potential limb loss or even death. PATIENT CONCERNS: A 39-year-old woman presented to our emergency department with painful swelling and cyanotic discoloration of the left lower limb for 2 days. DIAGNOSES: Computed tomography revealed thrombosis in the left common iliac vein and inferior vena cava. Angiography demonstrated extensive venous occlusion from the lower inferior vena cava to the left popliteal vein. The diagnosis of PCD was made. INTERVENTIONS: Systemic anticoagulation with intravenous unfractionated heparin was initiated immediately. Mechanical thrombectomy with Angiojet and angioplasty were performed, and catheter-directed thrombolysis (CDT) was administered subsequently. OUTCOMES: Follow-up angiography revealed regression of the thrombosis and the opacification of the deep vein was restored. The patient was discharged from the hospital uneventfully. CONCLUSIONS: PCD is a rare but potentially limb and life-threatening condition that requires immediate recognition. Treatment should be in a timely manner. Anticoagulation alone may be inadequate and more aggressive management such as CDT and thrombectomy should be considered.

Predicting the surgical reparability of large-to-massive rotator cuff tears by B-mode ultrasonography: a cross-sectional study.

PURPOSE: This study aimed to compare the ability of B-mode ultrasonography and magnetic resonance imaging (MRI) to predict the repairability of large-to-massive rotator cuff tears (RCTs). METHODS: This cross-sectional study included participants with large-to-massive RCTs who underwent arthroscopic repair. B-mode ultrasonography and MRI were conducted prior to arthroscopic repair. B-mode ultrasonography was used to evaluate the echogenicity of the rotator cuff muscle using the Heckmatt scale. Intra-rater and inter-rater reliabilities were examined for two independent physicians. MRI was used to evaluate the degrees of tendon retraction, fatty infiltration of rotator cuff muscles, and muscle atrophy. Finally, two experienced orthopedic surgeons performed surgery and decided whether the torn stump could be completely repaired intraoperatively. RESULTS: Fifty participants were included, and 32 complete repairs and 18 partial repairs were performed. B-mode ultrasonography showed good intra-rater reliability and inter-rater reliability for assessment of the muscle echogenicity of the supraspinatus and infraspinatus muscles. The correlation coefficients between B-mode ultrasound findings and MRI findings showed medium to large effect sizes (r=0.4-0.8). The Goutallier classification of the infraspinatus muscles was the MRI predictor with the best discriminative power for surgical reparability (area under the curve [AUC], 0.89; 95% confidence interval [CI], 0.81 to 0.98), while the Heckmatt scale for infraspinatus muscles was the most accurate ultrasound predictor (AUC, 0.85; 95% CI, 0.74 to 0.96). No significant differences in AUCs among the MRI and ultrasound predictors were found. CONCLUSION: B-mode ultrasonography was a reliable examination tool and had a similar ability to predict surgical reparability to that of MRI among patients with large-to-massive RCTs.

Myoepithelial and oral intracranial myxoid mesenchymal tumor-like neoplasms as diagnostic considerations of the ever-expanding extracranial myxocollagenous tumors harboring FET-CREB fusions.

AIMS: Intracranial myxoid mesenchymal tumors (IMMTs) with fusions between EWSR1/FUS and CREB transcription factors have morphologic overlap with myxoid angiomatoid fibrous histiocytoma (mAFH) and myoepithelial tumor/carcinoma (MET/MEC). We aimed to study the clinicopathologic and genetic spectrum of extracranial IMMT-like tumors and their relationships with mAFH and MET/MEC. METHODS: Twelve extracranial tumors harboring EWSR1/FUS-CREB fusions across different histologic groups were characterized using RNA sequencing, FISH and/or RT-PCR. RESULTS: There were 4 IMMT-like neoplasms, 3 MET/MECs, and 5 mAFHs from the tibia (n=1), oral cavity (n=2), and soft tissues (n=9; 5 in the extremities), harboring EWSR1-ATF1 in 4 cases, FUS-CREM and EWSR1-CREM in 3 each, and EWSR1-CREB1 in 2. Multinodular growth, reticular/cording/trabecular arrangements, myxocollagenous matrix, and lymphocytic infiltrates variably prevailed among the 3 groups. mAFHs were characterized by cells with syncytial cytoplasm. IMMT-like neoplasms and MET/MECs shared cells with distinct boundaries, but only MET/MECs expressed GFAP and/or S100. MUC4 and ALK were expressed in some IMMT-like neoplasms (2/4; 2/4) and mAFH (2/5; 1/5). Pan-TRK reactivity was observed in two IMMT-like neoplasms with upregulated NTRK3 mRNA and one MEC. Local recurrences, typically ≥ 12 months postoperatively, developed in 2/3 IMMT-like neoplasms, 1/2 MET/MECs, and 0/4 mAFHs with follow-up. No definite associations were found between fusion types and histology, immunoprofile or outcome. CONCLUSIONS: We demonstrated the similarities and differences among 3 extracranial myxocollagenous tumor groups sharing EWSR1/FUS-CREB fusions. Oral IMMT-like neoplasms harboring FUS-CREM or EWSR1-ATF1 and FUS-CREM-positive.

Association of sarcopenia and expression of interleukin-23 in colorectal cancer survival.

BACKGROUND & AIMS: The relationship between sarcopenia and interleukin-23 (IL-23) has not been reported. We designed this study to investigate this relationship and the association of sarcopenia and interleukin-23 with poor prognosis of colorectal cancer. METHODS: We used the %FINDCUT SAS macro to determine the cutpoints of the skeletal muscle index (SMI) to define sarcopenia in colorectal cancer patients. Immunohistochemical staining was performed to detect high and low IL-23 expression in cancer samples. Clinicopathological features were also recorded. The prognosis of the 5-year disease-free survival and overall survival were analyzed using univariate and multivariate methods. RESULTS: A total of 114 patients with colorectal cancer were enrolled. The mean age was 63.2 years. Forty-six (40%) patients were female. Sarcopenia was defined as less than 50 cm2/m2 for men and 32 cm2/m2 for women and 52(46%) patients were defined as having sarcopenia. Sarcopenia was significantly associated with poor 5-year disease-free survival and overall survival (p = 0.003 and p = 0.001, respectively). Multivariate adjustment demonstrated that sarcopenia was an independent predictor of the 5-year disease-free survival (hazard ratio = 1.827, p = 0.024) and overall survival (hazard ratio = 3.669, p < 0.001). A lower SMI was detected in patients with high IL-23 expression (p = 0.045). After grouping the patients with sarcopenia and IL-23 expression, the patients with sarcopenia and high IL-23 expression had the worst disease-free survival (p = 0.013) and overall survival (p = 0.007). CONCLUSIONS: This is the first study to explore the significant association between IL-23 expression and sarcopenia in colorectal cancer. Sarcopenia combined with IL-23, as an inflammatory marker, significantly predicted poor survival.

Sarcopenia adversely impacts postoperative complications in living-donor liver transplantation recipients.

Despite technological and immunological innovations, living-donor liver transplant (LDLT) recipients still face substantial risk of postoperative complications. Sarcopenia is being recognized more and more as a biomarker that correlates with poor outcomes in surgical patients. The purpose of this study was to evaluate the relationship between sarcopenia and significant surgical complications in LDLT recipients. This retrospective review included patients who had received LDLT at our institute from 2005 to 2017. Sarcopenia was assessed using the psoas muscle index (PMI) in cross-sectional images. ROC curve analysis was used to determine the ability of PMI to predict postoperative complications. Correlations between major postoperative complications and sarcopenia were evaluated using regression analysis. A total of 271 LDLT recipients were included. No significant differences were found between PMI and major postoperative complications in male patients. Female recipients with major postoperative complications had significantly lower mean PMI values (P = 0.028), and the PMI cut-off value was 2.63 cm2/m2. Postoperative massive pleural effusion requiring pigtail drainage occurred more frequently in the sarcopenia group than in the non-sarcopenia group (P = 0.003). 1-, 3-, 5- and 10-year overall survival rates in female were significantly poorer in the sarcopenia group (n = 14) compared with the non-sarcopenia group (n = 108), at 92.9% versus 97.2%, 85.7% versus 95.4%, 85.7% versus 92.5% and 70.1 versus 82.0%, respectively (P = 0.041) and 94.6%, 89.9%, 85.9% and 78.5% in male patients. Sarcopenia is associated with a significantly higher risk of major postoperative complications in females. PMI and sarcopenia together are predictive of major postoperative complications and survival rates in female LDLT recipients.

Pre-sarcopenia is the prognostic factor of overall survival in early-stage hepatoma patients undergoing radiofrequency ablation.

Sarcopenia might have impact on the outcome of patients with hepatoma carcinoma (HCC). This study was to determine whether pre-sarcopenia is associated with the outcome of HCC patients undergoing radiofrequency ablation (RFA).Patients with newly diagnosed HCC undergoing RFA were enrolled. We excluded patients without pre-RFA abdominal computed tomography or with incomplete ablation. Psoas muscle area index was calculated at the mid-lumbar 3 level of computed tomography images with the manual trace method. Pre-sarcopenia was defined as psoas muscle area index less than 4.24 and 2.50 cm/m for males and females respectively. The demographics and clinical characteristics were recorded before RFA.All patients were followed regularly until death or end of 2018. A total of 136 patients, including - BCLC stage 0 (n = 44, 32.4%) and - stage A (n = 92, 67.6%), were enrolled (males/females: 78/58, age: 65.4 years) with a mean follow-up period of 3.84 years. There were 75 patients (55.1%) with HCC recurrence and 47 patients (34.6%) with mortality during follow-up. Twenty-two (16.2%) patients were diagnosed with pre-sarcopenia. Multivariate analysis showed pre-sarcopenia (HR: 2.110 (1.092-4.078); P = .026) was the only factor significantly associated with overall survival (OS); however, there were no factors associated with HCC recurrence.For patients without and with pre-sarcopenia, the 1-, 3-, and 5-year OS rates were 92.0%, 77.6%, 68.9%, and 81.8%, 54.5%, 44.1% respectively (P = .007). For early-stage HCC patients undergoing RFA, pre-sarcopenia is the prognostic factor of OS, but not of recurrence, with a worse 5-year OS rate of 44.1%.