Molecular and Treatment Characteristics of <i>SMARCB1</i> or <i>SMARCA4</i>-Deficient Undifferentiated Tumor: Retrospective Case Series

Kang, Hyeon Gyu; Koh, Jiwon; Kim, Tae Min; Han, Doo Hee; Won, Tae-Bin; Kim, Dong-Wan; Kim, Dong-Young; Keam, Bhumsuk

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Cancer Research and Treatment > Accepted Articles

Case Report

doi: https://doi.org/10.4143/crt.2023.1308 [Accepted]

Molecular and Treatment Characteristics of SMARCB1 or SMARCA4-Deficient Undifferentiated Tumor: Retrospective Case Series

Hyeon Gyu Kang¹

, Jiwon Koh², Tae Min Kim³, Doo Hee Han⁴, Tae-Bin Won⁴, Dong-Wan Kim³, Dong-Young Kim⁴, Bhumsuk Keam³

¹Seoul National University College of Medicine, Seoul, Korea
²Department of Pathology, Seoul National University Hospital, Seoul, Korea
³Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea
⁴Department of Otorhinolaryngology, Seoul National University Hospital, Seoul, Korea

Correspondence

Bhumsuk Keam ,Tel: 82-2-2072-7215, Fax: 82-2-2072-7379, Email: bhumsuk@snu.ac.kr

Received: December 11, 2023; Accepted: February 9, 2024. Published online: February 13, 2024.

ABSTRACT

SMARCB1 or SMARCA4-deficient sinonasal carcinoma or thoracic undifferentiated tumor has aggressive nature with a poor prognosis. Patients with this disease were diagnosed by immunohistochemistry (IHC) or next-generation sequencing (NGS). Those who were able to receive a surgery tended to be cured, while the others treated with chemotherapy, radiation therapy, or immune checkpoint inhibitor were often insensitive to these therapies. However, one having CD274 (PD-L1) amplification showed the response to immune checkpoint inhibitor and a good prognosis. We believed that this report could provide promising information for determining the optimal treatment option.

Key words: SMARCB1, SMARCA4, Undifferentiated Tumor