PMID- 38429827
OWN - NLM
STAT- MEDLINE
DCOM- 20240304
LR  - 20240304
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 19
IP  - 1
DP  - 2024 Mar 1
TI  - Re-evaluating a historic cohort of sinonasal and skull base mucoepidermoid 
      carcinoma: an institutional experience.
PG  - 46
LID - 10.1186/s13000-024-01466-5 [doi]
LID - 46
AB  - AIMS: Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and 
      nasopharynx are rare entities that represent a diagnostic challenge, especially 
      in biopsy samples. Herein, we present a case series of MECs of the sinonasal and 
      skull base and its mimics to evaluate the clinicopathological and molecular 
      characteristics in order to avoid misdiagnosis. METHODS: We reviewed the 
      pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were 
      consecutively diagnosed during that period. RESULTS: Based on morphological and 
      fluorescence in situ hybridization (FISH) analyses, 30 tumors originally 
      diagnosed as MECs were separated into MAML2 fusion-positive (7 cases) and MAML2 
      fusion-negative groups (23 cases), in which 14 tumors were positive for the 
      EWSR1::ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell 
      carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed 
      as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high 
      Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement 
      was detected by FISH; and MECs as previously described (4 cases) with typical 
      morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had 
      a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal 
      region, while 5 tumors arose from the sinonasal region. The prognosis of this 
      series of salivary gland-type MECs was favorable. CONCLUSIONS: Our study 
      confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal 
      tract and nasopharynx, particularly with biopsy specimens. Careful histological 
      evaluation with supporting molecular testing can facilitate pathological 
      diagnoses.
CI  - (c) 2024. The Author(s).
FAU - Hu, Chunyan
AU  - Hu C
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China.
AD  - Department of Radiotherapy, Fudan University Shanghai Cancer Center, 270 Dongan 
      Road, Shanghai, 200032, China.
FAU - Lin, Lan
AU  - Lin L
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China.
FAU - Ye, Ming
AU  - Ye M
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China.
FAU - Liu, Yifeng
AU  - Liu Y
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China.
FAU - Huang, Qiang
AU  - Huang Q
AD  - Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 
      Shanghai, 200031, China.
FAU - Yuan, Cuncun
AU  - Yuan C
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China.
FAU - Sun, Ji
AU  - Sun J
AD  - Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue 
      Road, Shanghai, 201112, China. ji.sun@fdeent.org.
FAU - Sun, Hui
AU  - Sun H
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      200032, China. docsunhui2016@163.com.
LA  - eng
GR  - 2023MHZ070/Natural Science Foundation of Minhang District, Shanghai/
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20240301
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Humans
MH  - Male
MH  - Female
MH  - *Carcinoma, Mucoepidermoid/diagnosis/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Transcription Factors/genetics
MH  - *Salivary Gland Neoplasms/pathology
MH  - *Carcinoma, Squamous Cell
PMC - PMC10905897
OTO - NOTNLM
OT  - DEK::AFF
OT  - EWSR1::ATF1
OT  - MAML2
OT  - Hyalinizing clear cell carcinoma
OT  - Mucoepidermoid carcinoma
OT  - Sinonasal tract and skull base
COIS- The authors declare no competing interests.
EDAT- 2024/03/02 10:42
MHDA- 2024/03/04 06:47
PMCR- 2024/03/01
CRDT- 2024/03/01 23:50
PHST- 2023/11/18 00:00 [received]
PHST- 2024/02/10 00:00 [accepted]
PHST- 2024/03/04 06:47 [medline]
PHST- 2024/03/02 10:42 [pubmed]
PHST- 2024/03/01 23:50 [entrez]
PHST- 2024/03/01 00:00 [pmc-release]
AID - 10.1186/s13000-024-01466-5 [pii]
AID - 1466 [pii]
AID - 10.1186/s13000-024-01466-5 [doi]
PST - epublish
SO  - Diagn Pathol. 2024 Mar 1;19(1):46. doi: 10.1186/s13000-024-01466-5.