PMID- 34354947
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240403
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 11
DP  - 2021
TI  - YAP1-MAML2 Fusion as a Diagnostic Biomarker for Metaplastic Thymoma.
PG  - 692283
LID - 10.3389/fonc.2021.692283 [doi]
LID - 692283
AB  - BACKGROUND: Metaplastic thymoma is a very rare tumor with only a few case reports 
      documented in literature. Hence, its molecular features have not been well 
      explored. MATERIAL AND METHODS: Seventeen specimens of metaplastic thymoma were 
      sequenced and retrospectively analyzed by fluorescence in situ hybridization 
      (FISH) and immunohistochemistry in the study. In addition, seven cases of 
      micronodular thymoma with lymphoid stroma and nine cases of type A thymoma were 
      also investigated. RESULTS: Among these metaplastic thymomas, fifteen cases 
      showed classical histological features, and two cases displayed characteristic 
      micronodular-like growth patterns. DNA and RNA based next-generation sequencing 
      identified and confirmed highly recurrent Yes Associated Protein 1 (YAP1) - 
      Mastermind Like Transcriptional Coactivator 2 (MAML2) translocation (13/17, 
      76.5%) in metaplastic thymoma but not in micronodular thymoma with lymphoid 
      stroma (0/7, 0%) and type A thymoma (0/9, 0%). In addition, six nonsense 
      mutations were also detected in the metaplastic thymoma. FISH in microdissection 
      specimens indicated that both epithelioid and spindle cell components harbored 
      YAP1-MAML2 gene rearrangements. CONCLUSIONS: Our study explored the genetic 
      alterations in epithelioid and spindle cell components in metaplastic thymoma. 
      Furthermore, YAP1-MAML2 gene rearrangements emerged as a potential diagnostic 
      biomarker helpful for distinguishing metaplastic thymoma from type A and 
      micronodular thymoma with lymphoid stroma.
CI  - Copyright (c) 2021 Zhao, Zhao, Xiang, Shao, Guo and Han.
FAU - Zhao, Jikai
AU  - Zhao J
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
FAU - Zhao, Ruiying
AU  - Zhao R
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
FAU - Xiang, Chan
AU  - Xiang C
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
FAU - Shao, Jinchen
AU  - Shao J
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
FAU - Guo, Lianying
AU  - Guo L
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
FAU - Han, Yuchen
AU  - Han Y
AD  - Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 
      Shanghai, China.
LA  - eng
PT  - Journal Article
DEP - 20210720
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC8329546
OTO - NOTNLM
OT  - FISH
OT  - YAP1-MAML2
OT  - biomarker
OT  - gene rearrangements
OT  - metaplastic thymoma
OT  - sequencing
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- 2021/08/07 06:00
MHDA- 2021/08/07 06:01
PMCR- 2021/01/01
CRDT- 2021/08/06 06:54
PHST- 2021/04/08 00:00 [received]
PHST- 2021/07/07 00:00 [accepted]
PHST- 2021/08/06 06:54 [entrez]
PHST- 2021/08/07 06:00 [pubmed]
PHST- 2021/08/07 06:01 [medline]
PHST- 2021/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2021.692283 [doi]
PST - epublish
SO  - Front Oncol. 2021 Jul 20;11:692283. doi: 10.3389/fonc.2021.692283. eCollection 
      2021.