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Positive outcome of first-line therapy for a SMARCA4-deficient thoracic sarcomatoid tumor

Abstract

SMARCA4-deficient thoracic sarcomatoid tumor is a rare malignancy indicating some characteristics of a smoking-related disease. The purpose of this report is to describe a case of aggressive thoracic tumor with loss of immunochemical SMARCA4 expression and detail the results of our treatment regimen. The patient was a 58-year-old male and clinicopathologically diagnosed with a SMARCA4-deficient thoracic sarcomatoid tumor. Pembrolizumab plus carboplatin and pemetrexed resulted in significant response. This combination therapy showed potential for first-line systemic treatment of SMARCA4-deficient thoracic sarcomatoid tumors.

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References

  1. Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodelers and cancer. Nat Rev Cancer 11:481–492

    CAS  Article  Google Scholar 

  2. Schneppenheim R, Fruhwald MC, Gesk S et al (2010) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86:279–284

    CAS  Article  Google Scholar 

  3. Witkowski L, Carrot-Zhang J, Albrecht S et al (2014) Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 46:438–443

    CAS  Article  Google Scholar 

  4. Le Loarer F, Watson S, Pierron G et al (2015) SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related BAF-deficient sarcomas. Nat Genet 47:1200–1205

    Article  Google Scholar 

  5. Rekhtman N, Montecalvo J, Chang JC et al (2020) SMARCA4-deficient thoracic sarcomatoid tumors represent primary smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. J Thorac Oncol 15:231–247

    CAS  Article  Google Scholar 

  6. Henon C, Blay JY, Massard C et al (2019) Long lasting major response to pembrolizumab in a thoracic malignant rhabdoid-like SMARCA4-deficient tumor. Ann Oncol 30:1401–1403

    CAS  Article  Google Scholar 

  7. Iijima Y, Sakakibara R, Ishizuka M et al (2020) Notable response to nivolumab during the treatment of SMARCA4-deficient thoracic sarcoma: a case report. Immunotherapy 12:563–569

    CAS  Article  Google Scholar 

  8. Rizvi NA, Hellmann MD, Snyder A et al (2015) Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 348:124–128

    CAS  Article  Google Scholar 

  9. Dagogo-Jack I, Schrock AB, Kem M et al (2020) Clinicopathologic characteristics of BRG1-deficient NSCLC. J Thorac Oncol 15:766–776

    CAS  Article  Google Scholar 

  10. Zhou H, Shen J, Liu J et al (2020) Efficacy of immune checkpoint inhibitors in SMARCA4-mutant NSCLC. J Thorac Oncol 15:e133-136

    CAS  Article  Google Scholar 

Download references

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Correspondence to Shigeru Tanaka.

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Tanaka, S., Hayashi, S., Isobe, Y. et al. Positive outcome of first-line therapy for a SMARCA4-deficient thoracic sarcomatoid tumor. Int Canc Conf J 10, 112–115 (2021). https://doi.org/10.1007/s13691-021-00472-4

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  • DOI: https://doi.org/10.1007/s13691-021-00472-4

Keywords

  • SMARCA4
  • Aggressive thoracic tumor
  • Immune checkpoint inhibitor