A Prompt Diagnosis and Treatment of a Case of Nuclear Protein of the Testis Carcinoma Characterized by a Bronchial Lesion and High Serum Alpha-fetoprotein Level Following Genomic Testing

Hiroaki Matsuura; Go Makimoto; Naohiro Oda; Kiichiro Ninomiya; Hisao Higo; Masanori Fujii; Kammei Rai; Eiki Ichihara; Kadoaki Ohashi; Katsuyuki Hotta; Masahiro Tabata; Yoshinobu Maeda

doi:10.2169/internalmedicine.2938-23

Hiroaki Matsuura, Go Makimoto, Naohiro Oda, Kiichiro Ninomiya, Hisao Higo, Masanori Fujii, Kammei Rai, Eiki Ichihara, Kadoaki Ohashi, Katsuyuki Hotta, Masahiro Tabata, Yoshinobu Maeda

Author information

Hiroaki Matsuura
Department of Respiratory Medicine, Okayama University Hospital, Japan
Go Makimoto
Department of Respiratory Medicine, Okayama University Hospital, Japan
Center for Clinical Oncology, Okayama University Hospital, Japan
Naohiro Oda
Department of Respiratory Medicine, Fukuyama City Hospital, Japan
Kiichiro Ninomiya
Center for Comprehensive Genomic Medicine, Okayama University Hospital, Japan
Hisao Higo
Department of Respiratory Medicine, Okayama University Hospital, Japan
Masanori Fujii
Department of Respiratory Medicine, Okayama University Hospital, Japan
Kammei Rai
Center for Innovative Clinical Medicine, Okayama University Hospital, Japan
Eiki Ichihara
Department of Respiratory Medicine, Okayama University Hospital, Japan
Kadoaki Ohashi
Department of Respiratory Medicine, Okayama University Hospital, Japan
Katsuyuki Hotta
Center for Innovative Clinical Medicine, Okayama University Hospital, Japan
Masahiro Tabata
Center for Clinical Oncology, Okayama University Hospital, Japan
Yoshinobu Maeda
Department of Hematology, Oncology, and Respiratory Medicine, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Japan

Keywords: NUT carcinoma, BRD4-NUTM1, lung cancer, alpha-fetoprotein (AFP), immune checkpoint inhibitor

JOURNAL OPEN ACCESS Advance online publication

Article ID: 2938-23

DOI https://doi.org/10.2169/internalmedicine.2938-23

Details

Abstract

Nuclear protein of the testis carcinoma (NUTC) is a rare and aggressive malignancy. We herein report a case of NUTC in the lung characterized by a bronchial lesion and elevated alpha-fetoprotein levels. A 35-year-old Japanese man presented to our institution with suspected advanced lung cancer based on a histological examination. Subsequently, next-generation sequencing (NGS) yielded a positive BRD4-NUTM1 fusion. In addition, positive NUT immunostaining of the lung biopsy specimen confirmed NUTC in the lungs. Systemic chemotherapy and radiotherapy showed a temporary response, with decreased serum alpha-fetoprotein levels. We highlight this case of a prompt diagnosis by NGS of NUTC in a young individual with a rapidly progressing tumor.

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