• Chihiro Murano, Shuhei Suzuki, Sho Nakamura, Hiroyuki Takeda, Tadahisa Fukui, and Takashi Yoshioka.
• Department of Clinical Oncology, Yamagata University Faculty of Medicine, Japan.
• Intern. Med. 2021 Nov 15; 60 (22): 3645-3649.

AbstractNuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare malignant tumor expressing NUT with BRD4/3 rearrangements and is sometimes misdiagnosed as germinoma, especially in alpha-fetoprotein (AFP)-elevated cases. A 28-year-old man had a mediastinal tumor with multiple bone metastases and elevated AFP levels. Imaging/laboratory findings led to a pathological diagnosis of extragonadal germinoma. After unsuccessful treatment with etoposide-cisplatin, he was re-diagnosed with sarcoma due to vimentin-positive findings. He was treated with adriamycin-ifosfamide, which resulted in disease-control. A posthumous examination clarified the NUT rearrangement. Even in cases with characteristic findings, such as elevated AFP levels and vimentin positivity, NMC should be considered as a differential diagnosis. We note, however, that adriamycin-ifosfamide has some efficacy in such cases.

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