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Zheng YJ, Ren L, Zhu Y, Yang X, Zhang X, Deng S, Wang ZQ, Chen D, Shao Y, Han PC, Zhang Q. DICER1-associated sarcoma of the aortic arch - a case report and literature review. Cardiovasc Pathol 2022; 60:107451. [PMID: 35835430 DOI: 10.1016/j.carpath.2022.107451] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/06/2022] [Revised: 06/22/2022] [Accepted: 07/06/2022] [Indexed: 11/29/2022] Open
Abstract
Primary sarcoma of the aorta is extremely rare. We herein report a case of DICER1-associated sarcoma originating from the aortic arch. A 45-year-old male was admitted to the hospital with a cold left hand and weakened radial artery pulse in the left side. Computed tomography of the chest showed multiple penetrating ulcers with tumor-like ectasia at the aortic arch, diagnosed as a pseudoaneurysm. Histopathological analysis of the mass revealed a biphasic neoplasm composed of epithelial and mesenchymal components and a transition zone between the epithelial and mesenchymal cells, which supports the diagnosis of a biphasic sarcoma rather than carcinosarcoma. The differentiated cells of soft tissue showed strong and diffuse positivity for TLE-1, Bcl-2, and CD99; the nested epithelial cells were focally positive for CK-pan, but negative for EMA, membranous localization of β-catenin. This case showed a unique pattern of SS18-break-apart probe, with loss of the green signal (approximately 33%) by fluorescence in situ hybridization (FISH). Fusion gene profiling using whole transcriptome RNA sequencing (RNA-seq) indicated that this case was negative for common fusion genes including SS18. Next-generation sequencing (NGS) revealed somatic mutations in DICER1 . Taken together, this case was diagnosed as a DICER-associated biphasic sarcoma of the aortic arch. The patient died four months after aorta replacement therapy without radiotherapy and chemotherapy.
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Affiliation(s)
- Yan-Jun Zheng
- TEDA Hospital of Tianjin University, pathology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Ling Ren
- TEDA Hospital of Tianjin University, pathology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Yu Zhu
- TEDA Hospital of Tianjin University, pathology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Xi Yang
- TEDA Hospital of Tianjin University, pathology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Xiang Zhang
- Third central hospital of Tianjin Medical University, radiology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Shu Deng
- Second Hospital of Tianjin Medical University, stomatology department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Zheng-Qing Wang
- Second Hospital of Tianjin Medical University, stomatology department, Tianjin, China; TEDA international Cardiovascular Hospital of Tianjin University, cardiovascular surgery department, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Dong Chen
- TEDA international Cardiovascular Hospital of Tianjin University, cardiovascular surgery department, Tianjin, China; Affiliated Anzhen Hospital of Capital Medical University, pathology department, Beijing, China; Stomatology colledge, Tianjin Medical University
| | - Yang Shao
- Affiliated Anzhen Hospital of Capital Medical University, pathology department, Beijing, China; Nanjing Geneseeq Technology, Inc, Nanjing, China; School of Public Health, Nanjing Medical University, Nanjing, China; Stomatology colledge, Tianjin Medical University
| | - Peng-Cheng Han
- Department of Pathology, Tianjin Third Central Hospital, Tianjin, China; Stomatology colledge, Tianjin Medical University
| | - Qin Zhang
- TEDA Hospital of Tianjin University, pathology department, Tianjin, China; TEDA international Cardiovascular Hospital of Tianjin University, cardiovascular surgery department, Tianjin, China; Nanjing Geneseeq Technology, Inc, Nanjing, China; School of Public Health, Nanjing Medical University, Nanjing, China; Stomatology colledge, Tianjin Medical University.
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Xie XJ, Jiang TA, Zhao QY. Diagnostic value of contrast-enhanced ultrasonography in mediastinal leiomyosarcoma mimicking aortic hematoma: A case report and review of literature. World J Clin Cases 2021; 9:9652-9661. [PMID: 34877303 PMCID: PMC8610851 DOI: 10.12998/wjcc.v9.i31.9652] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/23/2021] [Revised: 07/18/2021] [Accepted: 09/19/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Primary mediastinal leiomyosarcomas are extremely rare. We report a case of leiomyosarcoma around the thoracic and abdominal aorta, mimicking an aortic hematoma, and discuss the diagnostic value of ultrasound.
CASE SUMMARY A 63-year-old female was hospitalized for abdominal pain. Initial computed tomography angiography revealed an enhanced mass around the lower thoracic and upper abdominal aorta. Aortic hematoma was strongly suspected, and stents were placed by interventional surgery. About 1 mo postoperatively, the patient was re-hospitalized because of progressive abdominal pain. Ultrasound showed that the mass had a heterogeneous echo. In contrast-enhanced ultrasound, the hyperechoic regions were filled with contrast medium after the aortic region was, indicating that the blood supply was abundant but had no direct connection with the aorta. There was no obvious contrast medium-filling in the hypoechoic area. These findings were similar to those of malignant tumors with liquefaction and necrosis. Positron emission tomography/computed tomography confirmed that the mass had a high metabolic signal similar to that of a malignant tumor. Leiomyosarcoma was confirmed by postoperative pathology.
CONCLUSION Symptoms of mediastinal leiomyosarcoma surrounding the aorta may mimic aortic hematoma. Contrast-enhanced ultrasound can provide valuable and unique diagnostic clues.
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Affiliation(s)
- Xiu-Jing Xie
- Department of Ultrasound Medicine, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou 310003, Zhejiang Province, China
| | - Tian-An Jiang
- Department of Ultrasound Medicine, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou 310003, Zhejiang Province, China
| | - Qi-Yu Zhao
- Department of Ultrasound Medicine, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou 310003, Zhejiang Province, China
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Ropp AM, Burke AP, Kligerman SJ, Leb JS, Frazier AA. Intimal Sarcoma of the Great Vessels. Radiographics 2021; 41:361-379. [PMID: 33646906 DOI: 10.1148/rg.2021200184] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
Abstract
Intimal sarcomas of the pulmonary artery and aorta are rare entities with a poor prognosis. In many instances, pulmonary artery sarcomas are misinterpreted as acute or chronic pulmonary thromboembolism, whereas aortic intimal sarcomas are often misdiagnosed as protuberant atherosclerotic disease or intimal thrombus. Discernment of intimal sarcomas from these and other common benign entities is essential for the timely initiation of aggressive therapy. The most useful imaging modalities for assessment of a suspected intimal sarcoma include CT angiography, fluorine 18-fluorodeoxyglucose PET, and MRI. The authors discuss the clinical features, current treatment options, characteristic imaging findings, and underlying pathologic features of intimal sarcomas. The authors emphasize imaging discernment of intimal sarcomas and how their differential diagnosis is informed by knowledge of radiologic-pathologic correlation. The most reliable distinguishing imaging features are also emphasized to improve accurate and timely diagnosis. Online supplemental material is available for this article. ©RSNA, 2021.
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Affiliation(s)
- Alan M Ropp
- Department of Radiology and Medical Imaging, University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22903 (A.M.R.); Departments of Pathology (A.P.B.) and Diagnostic Radiology and Nuclear Medicine (A.A.F.), University of Maryland School of Medicine, Baltimore, Md; Department of Diagnostic Radiology, University of California San Diego School of Medicine, San Diego, Calif (S.J.K.); Department of Diagnostic Radiology, Columbia University Medical Center, New York, NY (J.S.L.); and American Institute for Radiologic Pathology Program (AIRP), American College of Radiology, Silver Spring, Md, and Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences (USUHS), Bethesda, Md (A.A.F.)
| | - Allen P Burke
- Department of Radiology and Medical Imaging, University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22903 (A.M.R.); Departments of Pathology (A.P.B.) and Diagnostic Radiology and Nuclear Medicine (A.A.F.), University of Maryland School of Medicine, Baltimore, Md; Department of Diagnostic Radiology, University of California San Diego School of Medicine, San Diego, Calif (S.J.K.); Department of Diagnostic Radiology, Columbia University Medical Center, New York, NY (J.S.L.); and American Institute for Radiologic Pathology Program (AIRP), American College of Radiology, Silver Spring, Md, and Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences (USUHS), Bethesda, Md (A.A.F.)
| | - Seth J Kligerman
- Department of Radiology and Medical Imaging, University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22903 (A.M.R.); Departments of Pathology (A.P.B.) and Diagnostic Radiology and Nuclear Medicine (A.A.F.), University of Maryland School of Medicine, Baltimore, Md; Department of Diagnostic Radiology, University of California San Diego School of Medicine, San Diego, Calif (S.J.K.); Department of Diagnostic Radiology, Columbia University Medical Center, New York, NY (J.S.L.); and American Institute for Radiologic Pathology Program (AIRP), American College of Radiology, Silver Spring, Md, and Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences (USUHS), Bethesda, Md (A.A.F.)
| | - Jay S Leb
- Department of Radiology and Medical Imaging, University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22903 (A.M.R.); Departments of Pathology (A.P.B.) and Diagnostic Radiology and Nuclear Medicine (A.A.F.), University of Maryland School of Medicine, Baltimore, Md; Department of Diagnostic Radiology, University of California San Diego School of Medicine, San Diego, Calif (S.J.K.); Department of Diagnostic Radiology, Columbia University Medical Center, New York, NY (J.S.L.); and American Institute for Radiologic Pathology Program (AIRP), American College of Radiology, Silver Spring, Md, and Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences (USUHS), Bethesda, Md (A.A.F.)
| | - Aletta A Frazier
- Department of Radiology and Medical Imaging, University of Virginia School of Medicine, 1215 Lee St, Charlottesville, VA 22903 (A.M.R.); Departments of Pathology (A.P.B.) and Diagnostic Radiology and Nuclear Medicine (A.A.F.), University of Maryland School of Medicine, Baltimore, Md; Department of Diagnostic Radiology, University of California San Diego School of Medicine, San Diego, Calif (S.J.K.); Department of Diagnostic Radiology, Columbia University Medical Center, New York, NY (J.S.L.); and American Institute for Radiologic Pathology Program (AIRP), American College of Radiology, Silver Spring, Md, and Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences (USUHS), Bethesda, Md (A.A.F.)
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