Department of Hematology/Oncology, Japan Community Healthcare Organization Kyushu Hospital, Fukuoka, Japan.
Department of Head and neck surgery, Japan Community Healthcare Organization Kyushu Hospital, Fukuoka, Japan.
BMC Cancer. 2018 Nov 19;18(1):1134. doi: 10.1186/s12885-018-5087-x.
Nuclear protein in testis (NUT) carcinoma (NC) is a rare epithelial malignancy characterized by rearrangement of the NUT gene on chromosome 15. If NC is not suspected, it is often diagnosed as other malignancies. We present the case of NC of the nasal cavity that responded to a chemotherapy regimen for Ewing's sarcoma family of tumors (ESFT).
A 49-year-old male presented with epistaxis and pain in the left eye. The patient had a tumor in the left nasal cavity at initial visit and it was biopsied. Firstly, the man was diagnosed with ESFT based on a histopathological examination. The tumor markedly responded to standard cytotoxic chemotherapy for ESFT with distant metastasis. After the start of therapy, a chromosomal analysis revealed an atypical translocation in ESFT and additional immunostaining was positive for anti-NUT antibody. Ultimately, the patient was definitively diagnosed with NC. He received multidisciplinary therapy and symptoms were temporarily relieved. However, he died 9 months after the diagnosis of NC.
When a pathologically undifferentiated tumor is evident along the midline of the body, NC must be included in the differential diagnosis, and immunohistochemical staining or genetic testing/chromosomal analysis needs to be performed.
睾丸核蛋白（NUT）癌（NC）是一种罕见的上皮性恶性肿瘤，其特征是 15 号染色体上 NUT 基因的重排。如果不怀疑 NC，通常会被诊断为其他恶性肿瘤。我们报告了一例鼻腔 NC，对尤文氏肉瘤家族肿瘤（ESFT）的化疗方案有反应。
一名 49 岁男性因鼻出血和左眼疼痛就诊。初诊时患者左侧鼻腔有肿瘤，进行了活检。首先，根据组织病理学检查，该男子被诊断为 ESFT。肿瘤对 ESFT 的标准细胞毒性化疗有明显反应，并伴有远处转移。治疗开始后，染色体分析显示 ESFT 存在非典型易位，免疫组织化学染色结果抗 NUT 抗体阳性。最终，该患者被确诊为 NC。他接受了多学科治疗，症状暂时缓解。然而，他在确诊 NC 后 9 个月死亡。
当身体中线有明显的病理未分化肿瘤时，必须将 NC 纳入鉴别诊断，需要进行免疫组织化学染色或基因检测/染色体分析。
