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Case Reports
. 2021 Aug 27:14:4621-4633.
doi: 10.2147/OTT.S327722. eCollection 2021.

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

Xi Wang  1 , Jinping Wang  1 , Xue Luo  1 , Jinxi Lu  1 , Liang Wang  1 , Qingchang Li  1 , En-Hua Wang  1
Affiliations
Case Reports

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

Xi Wang et al. Onco Targets Ther. .

Abstract

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: FISH; NUT midline carcinoma; NUTM1; gene rearrangement; next-generation sequencing.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
MRI coronal view showed a mass in the nasal cavity (A) and MRI sagittal view showed a heterogeneously enhanced mass (red arrow) at nasal cavity affecting ethmoid sinus, sphenoid sinus and hard palate bone (B).
Figure 2
Figure 2
Histomorphological details of NC. Tumor was composed of basaloid squamous cells. The periphery of the tumor nests was arranged in a palisade pattern. Focal abrupt keratinization could be seen (A ×100; B ×400).
Figure 3
Figure 3
Immunohistochemistry staining of tumor cells that were positive for CK (A ×200), p40 (B ×200) and NUT (D ×40; inset ×400). Ki-67 index of tumor cells was >60% (C ×200).
Figure 4
Figure 4
Fluorescence in situ hybridization demonstrated the gene rearrangement of NUTM1. Large proportion cells showing 1 red 1 green 1 fusion signal, indicating NUTM1 fused with partner genes.
See this image and copyright information in PMC

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