Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients
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SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently identified aggressive subtype of sarcoma. The aim of this study was to characterize the CT imaging features of SMARCA4-DTS.
From June 2011 to May 2017, 21 adult patients with histologically proven SMARCA4-DTS were identified in the radiological database of 2 French sarcoma reference centers with at least one chest CT scan available. The locations, sizes, heterogeneity, margin definitions, and local extensions of the tumors were reported together with their impact on surrounding organs and regional and distant metastases. Pathological findings, molecular analyses, and patients’ outcomes were retrieved.
Of the 21 included patients (median age 48, range 30–74), 18 (85.7%) were male and 18 (85.7%) had a smoking history. Four main radiological patterns were identified depending on the location of the main tumor burden: mediastinal (n = 13), pleural (n = 6), cervical (n = 1), and retroperitoneal (n = 1). Median size was 120 mm (range 46–266). Characteristic CT imaging features of primary tumors included ill-defined margins (n = 21), heterogeneous enhancement after injection (n = 20), multi-compartment extension from mediastinum to lung apex, pleura, or neck (n = 20), compressive effect responsible for atelectasis (n = 11), vascular encasement (n = 16—5 superior vena cava syndrome), and esophagus invasion (n = 5). Primary tumors showed strong 18F-FDG avidity in eight patients with PET-CT. Necrotic lymphadenopathies were found in 19 patients, with a surrounding infiltrate in 13 patients. Metastatic locations at baseline mainly involved adrenal (n = 10), lung (n = 6), and bone (n = 5). Median overall survival was 5 months (range 1–13).
Most SMARCA4-DTS present with compressive and infiltrative chest masses with ill-defined necrotic lymphadenopathies. The diagnosis of SMARCA4-DTS should enter in the differentials of the radiologist, especially in the case of a rapidly evolving thoracic mass in young smoking males.
• SMARCA4-DTS is a very aggressive poorly differentiated sarcoma with a predilection for young and middle-aged adult male smokers.
• SMARCA4-DTS, which is mostly located in the chest cavity, can compress and infiltrate all adjacent organs leading to superior vena syndrome, lung atelectasis, epiduritis, spinal cord compression, and esophagus invasion.
• SMARCA4-DTS typically demonstrates several ill-defined necrotic lymphadenopathies spreading in axillar, subclavian, cervical, mediastinum, and retroperitoneum.
KeywordsSarcoma Tomography, emission-computed Lung neoplasms Lymphoma
18F-Fluorodeoxyglucose positron emission tomography merged with computed tomography
Brahma-related gene 1
Hematoxylin and eosin staining
International Association for the Study of Lung Cancer
Malignant non-seminomatous germ cell tumor
Malignant rhabdoid tumors
NUT (nuclear in testis) midline carcinoma
Non-small cell lung carcinoma
Nuclear in testis
Small cell lung carcinoma
Solitary fibrous tumor
SMARCA4-deficient thoracic sarcoma
Sex-determining region Y-bOX 2
Maximal standardized uptake value
Thyroid transcription factor 1
The authors would like to thank Ms. Camille Martinerie for medical writing services.
The authors state that this work has not received any funding.
Compliance with ethical standards
The scientific guarantor of this publication is Dr. Xavier Buy, MD, head of the Department of Radiology, Institut Bergonié, Bordeaux, France.
Conflict of interest
The authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article.
Statistics and biometry
No complex statistical methods were necessary for this paper.
Written informed consent was waived by the Institutional Review Board.
Institutional Review Board approval was obtained.
Study subjects or cohorts overlap
Some study subjects or cohorts have been previously reported in the study by Le Loarer et al which aim was to characterize the molecular and genetic aspects of SMARCA4-DTS and did include a dedicated radiological analysis (Nat Genet 47(2015):1200–1205).
• multi-center study
- 6.Sauter JL, Graham RP, Larsen BT, Jenkins SM, Roden AC, Boland JM (2017) SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol 30:1422–1432. https://doi.org/10.1038/modpathol.2017.61
- 8.Travis WD, Brambilla E, Nicholson AG et al (2015) The 2015 World Health Organization classification of lung tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol 10:1243–1260. https://doi.org/10.1097/JTO.0000000000000630 CrossRefPubMedGoogle Scholar
- 11.Chan-Penebre E, Armstrong K, Drew A et al (2017) Selective killing of SMARCA2- and SMARCA4-deficient small cell carcinoma of the ovary, hypercalcemic type cells by inhibition of EZH2: in vitro and in vivo preclinical models. Mol Cancer Ther 16:850–860. https://doi.org/10.1158/1535-7163.MCT-16-0678 CrossRefPubMedGoogle Scholar
- 13.Italiano A, Soria JC, Toulmonde M et al (2018) Tazemetostat, an EZH2 inhibitor, in relapsed or refractory B-cell non-Hodgkin lymphoma and advanced solid tumours: a first-in-human, open-label, phase 1 study. Lancet Oncol 19:649–659. https://doi.org/10.1016/S1470-2045(18)30145-1 CrossRefPubMedGoogle Scholar
- 14.Young H, Baum R, Cremerius U et al (1999) Measurement of clinical and subclinical tumour response using [18F]-fluorodeoxyglucose and positron emission tomography: review and 1999 EORTC recommendations. European Organization for Research and Treatment of Cancer (EORTC) PET Study Group. Eur J Cancer 35:1773–1782CrossRefGoogle Scholar
- 16.Jung KJ, Lee KS, Han J, Kim J, Kim TS, Kim EA (2001) Malignant thymic epithelial tumors: CT-pathologic correlation. AJR Am J Roentgenol 176:433–439. https://doi.org/10.2214/ajr.176.2.1760433
- 22.Yeom YK, Kim MY, Lee HJ, Kim SS (2015) Solitary fibrous tumors of the pleura of the thorax: CT and FDG PET characteristics in a tertiary referral center. Medicine (Baltimore) 94:e1548. https://doi.org/10.1097/MD.0000000000001548
- 27.Treglia G, Sadeghi R, Annunziata S et al (2014) Diagnostic accuracy of 18F-FDG-PET and PET/CT in the differential diagnosis between malignant and benign pleural lesions: a systematic review and meta-analysis. Acad Radiol 21:11–20. https://doi.org/10.1016/j.acra.2013.09.015 CrossRefPubMedGoogle Scholar
- 29.Korivi BR, Javadi S, Faria S et al (2017) Small cell carcinoma of the ovary, hypercalcemic type: clinical and imaging review. Curr Probl Diagn Radiol. https://doi.org/10.1067/j.cpradiol.2017.08.004