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Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients

European Radiology volume 29, pages 4730–4741 (2019)Cite this article

Abstract

Objectives

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.

Methods

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.

Results

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).

Conclusion

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.

Key Points

• 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.

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Abbreviations

18F-FDG-PET/CT:

18F-Fluorodeoxyglucose positron emission tomography merged with computed tomography

BRG1:

Brahma-related gene 1

HES:

Hematoxylin and eosin staining

IASLC:

International Association for the Study of Lung Cancer

MNSGCT:

Malignant non-seminomatous germ cell tumor

MRT:

Malignant rhabdoid tumors

NMC:

NUT (nuclear in testis) midline carcinoma

NSCLC:

Non-small cell lung carcinoma

NUT:

Nuclear in testis

SCLC:

Small cell lung carcinoma

SFT:

Solitary fibrous tumor

SMARCA4-DTS:

SMARCA4-deficient thoracic sarcoma

SOX2:

Sex-determining region Y-bOX 2

SUVmax:

Maximal standardized uptake value

TTF1:

Thyroid transcription factor 1

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Acknowledgements

The authors would like to thank Ms. Camille Martinerie for medical writing services.

Funding

The authors state that this work has not received any funding.

Author information

Affiliations

  1. Department of Radiology, Institut Bergonié, Comprehensive Cancer Center, 229, cours de l’Argonne, F-33000, Bordeaux, France

    Amandine Crombé, Nicolas Alberti, Xavier Buy & Michèle Kind

  2. University of Bordeaux, F-33000, Bordeaux, France

    Amandine Crombé & François Le Loarer

  3. Department of Radiology, Centre Léon Bérard, Comprehensive Cancer Center, F-69000, Lyon, France

    Nicolas Villard & Frank Pilleul

  4. Department of Pathology, Institut Bergonié, Comprehensive Cancer Center, F-33000, Bordeaux, France

    François Le Loarer

Authors
  1. Amandine Crombé
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  2. Nicolas Alberti
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  5. Xavier Buy
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Corresponding author

Correspondence to Amandine Crombé.

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Guarantor

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.

Informed consent

Written informed consent was waived by the Institutional Review Board.

Ethical approval

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).

Methodology

• retrospective

• observational

• multi-center study

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François Le Loarer and Michèle Kind codirected the research.

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Crombé, A., Alberti, N., Villard, N. et al. Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients. Eur Radiol 29, 4730–4741 (2019). https://doi.org/10.1007/s00330-019-06017-x

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  • DOI: https://doi.org/10.1007/s00330-019-06017-x

Keywords

  • Sarcoma
  • Tomography, emission-computed
  • Lung neoplasms
  • Lymphoma