Diagnosis of NUT Carcinoma Despite False-Negative Next-Generation Sequencing Results: A Case Report and Literature Review

• Main Authors: Wang X, Wang J, Luo X, Lu J, Wang L, Li Q, Wang EH
• Format: Article
• Language: English
• Published: Dove Medical Press 2021-08-01
• Series: OncoTargets and Therapy
• Subjects: nutm1; nut midline carcinoma; fish; next-generation sequencing; gene rearrangement
• Online Access: https://www.dovepress.com/diagnosis-of-nut-carcinoma-despite-false-negative-next-generation-sequ-peer-reviewed-fulltext-article-OTT

Xi Wang, Jinping Wang, Xue Luo, Jinxi Lu, Liang Wang, Qingchang Li, En-Hua Wang Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, People’s Republic of ChinaCorrespondence: Liang WangDepartment of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, People’s Republic of ChinaTel/Fax [phone]Email [e-mail]: Nuclear protein in testis (NUT) carcinoma (NC) is a poorly differentiated malignant tumor with a poor prognosis, which is caused by the NUTM1 gene rearrangement. Positive staining of NUT using immunohistochemistry (IHC) or gene rearrangement of NUTM1 revealed by genetic analysis, such as fluorescence in situ hybridization (FISH) or next-generation sequencing (NGS), are important strategies used for accurate diagnosis. In the current study, we present a case of NC in an 18-year-old man who had a chief complaint of nasal congestion, nasal bleeding, and anosmia. Magnetic resonance imaging revealed a mass in the nasal cavity and nasal septum. The initial pathological diagnosis was basaloid squamous cell carcinoma. Based on the tumor location and abrupt keratinization, further genetic tests were performed, and NC was diagnosed using FISH, which was further verified by IHC. However, neither DNA-based NGS nor RNA-based NGS revealed the NUTM1 gene rearrangement. Using this case as a basis, we have reviewed the related literature, compared the common diagnostic methods of NC, and discussed the advantages and limitations of current tools employed for molecular analysis of the gene fusion.Keywords: NUTM1, NUT midline carcinoma, FISH, next-generation sequencing, gene rearrangement