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一名8岁女孩患类似扁桃体炎的NUT中线癌。

NUT midline carcinoma mimicking tonsillitis in an eight-year-old girl.

作者信息

Rutt Amy L, Poulik Janet, Siddiqui Abdul Hafeez, Konski Andre, Kalaf Majid, Madgy David N, Wang Zhihong J

机构信息

Department of Otolaryngology, Children's Hospital of Michigan, Detroit, MI 48201, USA.

出版信息

Ann Otol Rhinol Laryngol. 2011 Aug;120(8):546-9. doi: 10.1177/000348941112000810.

Abstract

We review a unique case of NUT midline carcinoma that presented in a young girl with an initial diagnosis of tonsillar abscess. We stress the importance of assaying poorly differentiated carcinomas in young patients for the t(15;19) translocation. Our patient presented with tonsillar enlargement and cervical lymphadenopathy mimicking acute tonsillitis. The clinical suspicion for malignancy arose after an aspirate from the tonsil did not yield any pus, and biopsy of a cervical lymph node demonstrated undifferentiated carcinoma. Further analysis by fluorescence in situ hybridization was positive for rearrangements in both BRD4 and NUT genes consistent with NUT carcinoma. In addition, fluorodeoxyglucose-positron emission tomography (FDG-PET) revealed a very high standard uptake value in both the primary tumor and metastatic foci, suggesting that FDG-PET could be a useful tool in the staging and follow-up of NUT midline carcinoma.

摘要

我们回顾了一例独特的NUT中线癌病例,该病例发生在一名年轻女孩身上,最初诊断为扁桃体脓肿。我们强调对年轻患者中低分化癌进行t(15;19)易位检测的重要性。我们的患者表现为扁桃体肿大和颈部淋巴结病,类似于急性扁桃体炎。扁桃体穿刺未抽出任何脓液,且颈部淋巴结活检显示为未分化癌后,临床对恶性肿瘤的怀疑开始出现。荧光原位杂交进一步分析显示,BRD4和NUT基因重排均为阳性,符合NUT癌。此外,氟脱氧葡萄糖正电子发射断层扫描(FDG-PET)显示原发肿瘤和转移灶的标准摄取值都非常高,这表明FDG-PET可能是NUT中线癌分期和随访的有用工具。

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