PMID- 34475768
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210904
IS  - 1178-6930 (Print)
IS  - 1178-6930 (Electronic)
IS  - 1178-6930 (Linking)
VI  - 14
DP  - 2021
TI  - Diagnosis of NUT Carcinoma Despite False-Negative Next-Generation Sequencing 
      Results: A Case Report and Literature Review.
PG  - 4621-4633
LID - 10.2147/OTT.S327722 [doi]
AB  - 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.
CI  - (c) 2021 Wang et al.
FAU - Wang, Xi
AU  - Wang X
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Wang, Jinping
AU  - Wang J
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Luo, Xue
AU  - Luo X
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Lu, Jinxi
AU  - Lu J
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Wang, Liang
AU  - Wang L
AUID- ORCID: 0000-0003-4015-9385
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Li, Qingchang
AU  - Li Q
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
FAU - Wang, En-Hua
AU  - Wang EH
AD  - Department of Pathology, The First Affiliated Hospital and College of Basic 
      Medical Sciences, China Medical University, Shenyang, 110001, People's Republic 
      of China.
LA  - eng
PT  - Case Reports
DEP - 20210827
PL  - New Zealand
TA  - Onco Targets Ther
JT  - OncoTargets and therapy
JID - 101514322
PMC - PMC8407784
OTO - NOTNLM
OT  - FISH
OT  - NUT midline carcinoma
OT  - NUTM1
OT  - gene rearrangement
OT  - next-generation sequencing
COIS- The authors declare that they have no competing interests.
EDAT- 2021/09/04 06:00
MHDA- 2021/09/04 06:01
PMCR- 2021/08/27
CRDT- 2021/09/03 06:46
PHST- 2021/07/03 00:00 [received]
PHST- 2021/08/18 00:00 [accepted]
PHST- 2021/09/03 06:46 [entrez]
PHST- 2021/09/04 06:00 [pubmed]
PHST- 2021/09/04 06:01 [medline]
PHST- 2021/08/27 00:00 [pmc-release]
AID - 327722 [pii]
AID - 10.2147/OTT.S327722 [doi]
PST - epublish
SO  - Onco Targets Ther. 2021 Aug 27;14:4621-4633. doi: 10.2147/OTT.S327722. 
      eCollection 2021.