scholarly journals Scapular Angiomatoid Fibrous Histiocytoma with EWSR1-CREB1 Fusion in an Adult Patient

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Hiroshi Kobayashi ◽  
Naohiro Makise ◽  
Aya Shinozaki-Ushiku ◽  
Yuki Ishibashi ◽  
Masachika Ikegami ◽  
...  

Background. Angiomatoid fibrous histiocytoma (AFH) is a rare intermediate malignant tumor that arises mainly in soft tissues, especially in the superficial extremities of patients younger than 30 years. There have been a few reports of AFH arising from sites other than soft tissue, including bone, and unusual site and age make it difficult to diagnose this rare tumor. Case Presentation. Here, we present a case of a 54-year-old man who was examined for chest pain, and computed tomography (CT) incidentally detected a bone tumor at the scapula with destruction of cortical bone and invasion into soft tissue. Magnetic resonance imaging revealed multiple cystic components with fluid-fluid levels. FDG-PET showed uptake at the axillary lymph node. The CT-guided needle biopsy revealed spindle cell sarcoma on histopathology. After neoadjuvant chemotherapy, a scapulectomy was performed. The final postresection histopathological diagnosis was the same as the preoperative diagnosis, and no obvious chemotherapeutic effect was observed. Next-generation sequencing of RNA isolated from paraffin-embedded tumor tissue revealed that these lesions harbored the EWSR1-CREB1 fusion gene, and the tumor was diagnosed as AFH. C-reactive protein level, which was elevated preoperatively, decreased after the operation, and there was no recurrence or metastasis 5 years after the treatment. Conclusion. The diagnosis of AFH is difficult when the tumor has an atypical presentation. Comprehensive genomic analysis, especially RNA sequencing, is efficient in diagnosing this rare tumor. Moreover, magnetic resonance imaging findings identical to AFH in soft tissue, the presence of paraneoplastic symptoms such as elevated inflammatory markers, and lymph node swelling were clues towards suspecting this tumor.

2020 ◽  
Author(s):  
Yunfang Yu ◽  
Zifan He ◽  
Jie Ouyang ◽  
Yujie Tan ◽  
Yong-Jian Chen ◽  
...  

Abstract In current clinical practice, the standard evaluation for axillary lymph node (ALN) status in breast cancer is based on the invasive procedure and many patients will suffer from operative associated complications. Hence, a novel signature incorporated tumor and lymph node magnetic resonance imaging (MRI) radiomics, clinical and pathological characteristics, and molecular subtypes based on the machine learning approach was established to accurately identify ALN metastasis in early-stage invasive breast cancer patients. Although the misjudgment of ALN status by clinicians according to preoperative MRI are common during clinical practice and even the senior radiologists make mistakes sometimes, this multiomic radiomic signature showed the superiority over clinicians and could precisely discriminate ALN metastasis among different molecular subtype patients. Furthermore, the association between MRI radiomic features and tumor-microenvironment features including immune cells, long non-coding RNAs, and types of methylated sites were found, which revealed the potential biological underpinning of MRI radiomics.


Author(s):  
Devkant Lakhera ◽  
Prashant Sarda ◽  
Premila Devi Waikhom ◽  
Dipu Bhuyan ◽  
Bijit Kumar Duara

Introduction: Soft tissue vascular anomalies present a diagnostic challenge. In these anomalies, imaging is crucial for therapeutic planning and improvement of prognosis. Ultrasound (US) and Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) are both widely utilised and are valuable imaging modalities, both having distinct advantages and limitations in evaluation of such lesions. Aim: To evaluate soft tissue vascular anomalies using US and CEMRI and assess their agreement in characterisation of these lesions. Materials and Methods: The prospective study included 75 patients with vascular anomalies evaluated by means of US and CEMRI: 71 underwent both US and MRI, three underwent US alone, and one patient underwent MRI alone. Patients of all ages were included. Lesions were characterised based on imaging findings and vascular perfusion characteristics. Histopathological evaluation was done in all patients. Receiver Operating Characteristic (ROC) analysis was used for differentiating data. The agreement of US and CEMRI with histopathological diagnosis were assessed using kappa statistics. Results: Among the soft tissue vascular anomalies, 17 were haemangiomas, 55 were vascular malformations and 3 were other vascular tumours. Majority of the lesions were venous malformations (n=26; 34.66%). A cut-off value of 17.5 cm/sec of peak venous velocity using Colour Doppler showed 100% sensitivity in differentiating Arterio-Venous Malformations (AVM) from haemangiomas using ROC curves. Agreement expressed as kappa was 0.884 (95% CI 0.794-0.973) for US and 0.923 (95% CI 0.850-0.996) for CEMRI demonstrating near perfect agreement with histopathology in both. Conclusion: The findings of this study indicate that both US and CEMRI are accurate in detection and characterisation of soft tissue vascular anomalies showing comparable level of agreement. US may be the preferred imaging modality as it is widely available, relatively inexpensive and non invasive. Contrast enhanced MRI may be reserved as a complementary technique in cases wherein lesion categorisation or extent is ambiguous during diagnosis.


2012 ◽  
Vol 19 (6) ◽  
pp. 1825-1830 ◽  
Author(s):  
Stephanie A. Valente ◽  
Gary M. Levine ◽  
Melvin J. Silverstein ◽  
Jessica A. Rayhanabad ◽  
Janie G. Weng-Grumley ◽  
...  

2018 ◽  
Vol 69 (9) ◽  
pp. 2498-2500
Author(s):  
Bogdan Sendrea ◽  
Antoine Edu ◽  
George Viscopoleanu

Magnetic resonance imaging has become the gold standard for soft tissue lesions evaluation especially after a traumatic event where there is need for diagnostic confirmation. The objective of the current paper was to evaluate the ability of magnetic resonance imaging in diagnosing soft tissue lesions in patients who underwent anterior cruciate ligament reconstruction compared with arthroscopic findings. Through the ability to diagnose soft tissue injuries, particularly meniscal lesions, magnetic resonance imaging should be considered as fundamental in guiding therapeutic management in patients with anterior cruciate ligament lesions.


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