Mills Andrew F, Lanfranchi Michael, Wein Richard O, Mukand-Cerro Ian, Pilichowska Monika, Cowan Janet, Bedi Harprit
Tufts University School of Medicine, 145 Harrison Ave, Boston, MA, 02111, USA,
Head Neck Pathol. 2014 Jun;8(2):182-6. doi: 10.1007/s12105-013-0479-3. Epub 2013 Aug 3.
NUT midline carcinoma (NMC) is a rare, genetically defined, highly lethal undifferentiated carcinoma occurring in the midline location of the neck, head or mediastinum. We present the case of a 23 year-old otherwise healthy Chinese male immigrant who presented with complaints of sore throat and right sided neck mass. The initial treatment was for likely EBV infection with streptococcal superinfection. Although continued investigation was pursued shortly after initial presentation, the mass had enlarged and become necrotic with significant nodal involvement. The mass was diagnosed as an NMC tumor with a novel three-way translocation t(9;15;19; q34;q13;p13.1). Despite aggressive treatment, the patient's condition progressed rapidly and he died within 3 months of initial diagnosis. Standard therapeutic interventions have been ineffective in the treatment of NMC. Earlier diagnosis could allow characterization of the natural progression of this entity, and allow more time for intervention or development of novel therapies, potentially related to molecular targets. This continues to require a high index of suspicion and early imaging with cytogenetic and immunohistochemical confirmation.
NUT 中线癌(NMC)是一种罕见的、具有遗传学定义的、高度致命的未分化癌,发生于颈部、头部或纵隔的中线部位。我们报告一例 23 岁的健康中国男性移民病例,该患者主诉咽痛和右侧颈部肿块。初始治疗针对可能的 EBV 感染合并链球菌重叠感染。尽管在初次就诊后不久就继续进行了检查,但肿块已增大并出现坏死,伴有明显的淋巴结受累。该肿块被诊断为具有新型三向易位 t(9;15;19; q34;q13;p13.1) 的 NMC 肿瘤。尽管进行了积极治疗,患者病情仍迅速进展,在初次诊断后 3 个月内死亡。标准治疗干预措施对 NMC 的治疗无效。早期诊断可以明确该疾病的自然病程,并为干预或开发可能与分子靶点相关的新疗法留出更多时间。这仍然需要高度的怀疑指数以及早期影像学检查,并通过细胞遗传学和免疫组织化学进行确认。