PDF(Pubmed)
Abstract：
UNASSIGNED: Nuclear protein in testis (NUT) carcinoma (NC) is a rare, aggressive tumor with a typical NUTM1 gene rearrangement.
UNASSIGNED: Herein, we report a series of 2 cases of sinonasal NC: one in a 16-year-old woman and one in a 37-year-old man. Immunohistochemistry (IHC) staining for NUT (C52B1), fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) sequencing were performed to investigate the morphological and genetic features of sinonasal NC.
UNASSIGNED: The two cases presented similar pathological features and IHC markers, and typical morphological changes, including undifferentiated cells and abrupt keratinization, were observed, with numerous mitotic figures and widespread tumor necrosis. Diffuse expression of NUT, CK, p63, and p40 was noted, while the tumors were negative for synaptophysin, chromogranin A, S-100, EBV-ISH, and PD-L1. Both tumors harbored a NUTM1 rearrangement. Subsequent sequencing revealed a rare BRD3::NUTM1 fusion and a classic BRD4::NUTM1 fusion. In addition, MCL1 copy number gain (2.1), low tumor mutation burden and stable microsatellites, were also confirmed. Case 1 received surgery and chemoradiotherapy but died 13 months after local recurrence and subsequent lung and bone metastasis. Case 2 underwent chemoradiotherapy and unfortunately died from the disease 6 months later. A review of all previously reported cases of sinonasal NCs (n=55) revealed that these tumors occur more frequently in female pediatric patients (n=11, male: female =3:8), whereas this sex difference is not observed in adult patients (n=44, male: female =23:21). The median survival times of pediatric and adult patients were 17 and 13.8 months, respectively.
UNASSIGNED: Sinonasal NC presents typical undifferentiated or poorly differentiated cells, abrupt keratinization features and heterogeneous genotypes, including BRD4::NUTM1 and BRD3::NUTM1 fusions, with low tumor mutation burden and stable microsatellites.
UNASSIGNED: Herein, we report a series of 2 cases of sinonasal NC: one in a 16-year-old woman and one in a 37-year-old man. Immunohistochemistry (IHC) staining for NUT (C52B1), fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) sequencing were performed to investigate the morphological and genetic features of sinonasal NC.
UNASSIGNED: The two cases presented similar pathological features and IHC markers, and typical morphological changes, including undifferentiated cells and abrupt keratinization, were observed, with numerous mitotic figures and widespread tumor necrosis. Diffuse expression of NUT, CK, p63, and p40 was noted, while the tumors were negative for synaptophysin, chromogranin A, S-100, EBV-ISH, and PD-L1. Both tumors harbored a NUTM1 rearrangement. Subsequent sequencing revealed a rare BRD3::NUTM1 fusion and a classic BRD4::NUTM1 fusion. In addition, MCL1 copy number gain (2.1), low tumor mutation burden and stable microsatellites, were also confirmed. Case 1 received surgery and chemoradiotherapy but died 13 months after local recurrence and subsequent lung and bone metastasis. Case 2 underwent chemoradiotherapy and unfortunately died from the disease 6 months later. A review of all previously reported cases of sinonasal NCs (n=55) revealed that these tumors occur more frequently in female pediatric patients (n=11, male: female =3:8), whereas this sex difference is not observed in adult patients (n=44, male: female =23:21). The median survival times of pediatric and adult patients were 17 and 13.8 months, respectively.
UNASSIGNED: Sinonasal NC presents typical undifferentiated or poorly differentiated cells, abrupt keratinization features and heterogeneous genotypes, including BRD4::NUTM1 and BRD3::NUTM1 fusions, with low tumor mutation burden and stable microsatellites.
摘要：
■睾丸（NUT）癌（NC）中的核蛋白是一种罕见的，具有典型NUTM1基因重排的侵袭性肿瘤。
■这里，我们报告了一系列2例鼻窦NC：1例16岁女性，1例37岁男性。NUT（C52B1）的免疫组织化学（IHC）染色，荧光原位杂交（FISH），进行下一代测序（NGS）测序以研究鼻窦NC的形态和遗传特征。
■两例表现出相似的病理特征和免疫组化标记，典型的形态变化,包括未分化的细胞和突然的角质化，被观察到,有许多有丝分裂图和广泛的肿瘤坏死。NUT的弥漫性表达，CK,注意到p63和p40，而肿瘤的突触素阴性，嗜铬粒蛋白A,S-100,EBV-ISH,PD-L1两种肿瘤都有NUTM1重排。随后的测序显示罕见的BRD3::NUTM1融合和经典的BRD4::NUTM1融合。此外,MCL1拷贝数增益（2.1），低肿瘤突变负荷和稳定的微卫星，也得到了证实。病例1接受了手术和放化疗，但在局部复发和随后的肺和骨转移后13个月死亡。病例2接受了放化疗，6个月后不幸死于疾病。对所有先前报道的鼻窦NC病例（n=55）的回顾显示，这些肿瘤在女性儿科患者中更常见（n=11，男性：女性=3：8），而在成年患者中没有观察到这种性别差异（n=44，男性：女性=23：21）。儿童和成人患者的中位生存时间分别为17和13.8个月。分别。
■鼻窦NC呈现典型的未分化或低分化细胞，突发性角质化特征和异质性基因型，包括BRD4::NUTM1和BRD3::NUTM1融合，具有低肿瘤突变负荷和稳定的微卫星。
■这里，我们报告了一系列2例鼻窦NC：1例16岁女性，1例37岁男性。NUT（C52B1）的免疫组织化学（IHC）染色，荧光原位杂交（FISH），进行下一代测序（NGS）测序以研究鼻窦NC的形态和遗传特征。
■两例表现出相似的病理特征和免疫组化标记，典型的形态变化,包括未分化的细胞和突然的角质化，被观察到,有许多有丝分裂图和广泛的肿瘤坏死。NUT的弥漫性表达，CK,注意到p63和p40，而肿瘤的突触素阴性，嗜铬粒蛋白A,S-100,EBV-ISH,PD-L1两种肿瘤都有NUTM1重排。随后的测序显示罕见的BRD3::NUTM1融合和经典的BRD4::NUTM1融合。此外,MCL1拷贝数增益（2.1），低肿瘤突变负荷和稳定的微卫星，也得到了证实。病例1接受了手术和放化疗，但在局部复发和随后的肺和骨转移后13个月死亡。病例2接受了放化疗，6个月后不幸死于疾病。对所有先前报道的鼻窦NC病例（n=55）的回顾显示，这些肿瘤在女性儿科患者中更常见（n=11，男性：女性=3：8），而在成年患者中没有观察到这种性别差异（n=44，男性：女性=23：21）。儿童和成人患者的中位生存时间分别为17和13.8个月。分别。
■鼻窦NC呈现典型的未分化或低分化细胞，突发性角质化特征和异质性基因型，包括BRD4::NUTM1和BRD3::NUTM1融合，具有低肿瘤突变负荷和稳定的微卫星。
