PMID- 38239638
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240121
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 13
DP  - 2023
TI  - Clinicopathological molecular characterizations of sinonasal NUT carcinoma: a 
      report of two cases and a literature review.
PG  - 1296862
LID - 10.3389/fonc.2023.1296862 [doi]
LID - 1296862
AB  - BACKGROUND: Nuclear protein in testis (NUT) carcinoma (NC) is a rare, aggressive 
      tumor with a typical NUTM1 gene rearrangement. METHODS: Herein, we report a 
      series of 2 cases of sinonasal NC: one in a 16-year-old woman and one in a 
      37-year-old man. Immunohistochemistry (IHC) staining for NUT (C52B1), 
      fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) 
      sequencing were performed to investigate the morphological and genetic features 
      of sinonasal NC. RESULTS: The two cases presented similar pathological features 
      and IHC markers, and typical morphological changes, including undifferentiated 
      cells and abrupt keratinization, were observed, with numerous mitotic figures and 
      widespread tumor necrosis. Diffuse expression of NUT, CK, p63, and p40 was noted, 
      while the tumors were negative for synaptophysin, chromogranin A, S-100, EBV-ISH, 
      and PD-L1. Both tumors harbored a NUTM1 rearrangement. Subsequent sequencing 
      revealed a rare BRD3::NUTM1 fusion and a classic BRD4::NUTM1 fusion. In addition, 
      MCL1 copy number gain (2.1), low tumor mutation burden and stable 
      microsatellites, were also confirmed. Case 1 received surgery and 
      chemoradiotherapy but died 13 months after local recurrence and subsequent lung 
      and bone metastasis. Case 2 underwent chemoradiotherapy and unfortunately died 
      from the disease 6 months later. A review of all previously reported cases of 
      sinonasal NCs (n=55) revealed that these tumors occur more frequently in female 
      pediatric patients (n=11, male: female =3:8), whereas this sex difference is not 
      observed in adult patients (n=44, male: female =23:21). The median survival times 
      of pediatric and adult patients were 17 and 13.8 months, respectively. 
      CONCLUSION: Sinonasal NC presents typical undifferentiated or poorly 
      differentiated cells, abrupt keratinization features and heterogeneous genotypes, 
      including BRD4::NUTM1 and BRD3::NUTM1 fusions, with low tumor mutation burden and 
      stable microsatellites.
CI  - Copyright (c) 2024 Chen, Li and Jiang.
FAU - Chen, Min
AU  - Chen M
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu, 
      Sichuan, China.
FAU - Li, Shuang
AU  - Li S
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu, 
      Sichuan, China.
FAU - Jiang, Lili
AU  - Jiang L
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu, 
      Sichuan, China.
LA  - eng
PT  - Journal Article
DEP - 20240104
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC10794637
OTO - NOTNLM
OT  - BRD3::NUTM1 fusion
OT  - BRD4::NUTM1 fusion
OT  - NUT carcinoma
OT  - next generation sequencing (NGS)
OT  - sinonasal malignancies
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2024/01/19 06:42
MHDA- 2024/01/19 06:43
PMCR- 2023/01/01
CRDT- 2024/01/19 03:43
PHST- 2023/09/19 00:00 [received]
PHST- 2023/12/01 00:00 [accepted]
PHST- 2024/01/19 06:43 [medline]
PHST- 2024/01/19 06:42 [pubmed]
PHST- 2024/01/19 03:43 [entrez]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2023.1296862 [doi]
PST - epublish
SO  - Front Oncol. 2024 Jan 4;13:1296862. doi: 10.3389/fonc.2023.1296862. eCollection 
      2023.