PMID- 37489594
OWN - NLM
STAT- MEDLINE
DCOM- 20230726
LR  - 20230908
IS  - 1365-2060 (Electronic)
IS  - 0785-3890 (Print)
IS  - 0785-3890 (Linking)
VI  - 55
IP  - 2
DP  - 2023
TI  - Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and 
      differential diagnosis of metaplastic thymoma.
PG  - 2237040
LID - 10.1080/07853890.2023.2237040 [doi]
LID - 2237040
AB  - BACKGROUND: Metaplastic thymoma (MT) is a very uncommon thymoma type, with 
      biphasic differentiation as one of its histological characteristics. This 
      histological pattern, however, can also be mistaken for type A thymoma and the A 
      component in type AB thymoma. METHODS: Postoperative specimens were collected 
      from five MT and four type A thymomas with a retrospective analysis involving 
      immunohistochemistry, fluorescence in situ hybridization (FISH) and 
      next-generation sequencing (NGS). RESULTS: The histological morphology of the MT 
      overlapped with that of the type A thymoma. With immunostains, the former's 
      spindle cell components expressed vimentin and EMA, but not CD20. In MT, 3/5 
      cases had the nuclear expression of YAP1. The spindle cell component of the type 
      A thymoma was found to express CD20. In all five cases of MT, FISH detection 
      revealed YAP1-MAML2 fusion, which was not found in any type A thymoma cases. NGS 
      sequencing confirmed YAP1-MAML2 rearrangement in all five cases of MT, and 
      mutations in POLE and HRAS were also found in two cases, respectively. GTF2I 
      c.74146970 T > A mutations were found in all cases of type A thymoma, and HRAS 
      and NRAS mutations were found in two cases, but no YAP1-MAML2 rearrangement was 
      evident. CONCLUSIONS: For the diagnosis and differential diagnosis of challenging 
      cases, the YAP1-MAML2 rearrangement and GTF2I mutation were both significant 
      molecular events specific to MT and type A thymoma, respectively.
FAU - Wang, Minghao
AU  - Wang M
AD  - Department of Neurosurgery, First Hospital of China Medical University, Shenyang, 
      China.
FAU - Xu, Hongtao
AU  - Xu H
AD  - Department of Pathology, First Hospital of China Medical University, Shenyang, 
      China.
FAU - Han, Qiang
AU  - Han Q
AD  - Department of Pathology, First Hospital of China Medical University, Shenyang, 
      China.
FAU - Wang, Liang
AU  - Wang L
AD  - Department of Pathology, First Hospital of China Medical University, Shenyang, 
      China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Ann Med
JT  - Annals of medicine
JID - 8906388
RN  - 0 (Transcription Factors, TFIII)
RN  - 0 (GTF2I protein, human)
RN  - 0 (Transcription Factors, TFII)
RN  - 0 (MAML2 protein, human)
RN  - 0 (Trans-Activators)
SB  - IM
MH  - Humans
MH  - Diagnosis, Differential
MH  - *Thymoma
MH  - In Situ Hybridization, Fluorescence
MH  - Retrospective Studies
MH  - Mutation
MH  - *Thymus Neoplasms
MH  - *Transcription Factors, TFIII
MH  - *Transcription Factors, TFII
MH  - Trans-Activators
PMC - PMC10392284
OTO - NOTNLM
OT  - GTF2I mutation
OT  - Metaplastic thymoma
OT  - YAP1-MAML2 rearrangement
OT  - fluorescence in situ hybridization
OT  - next-generation sequencing
COIS- The authors declare that they have no competing interests.
EDAT- 2023/07/25 13:08
MHDA- 2023/07/26 06:43
PMCR- 2023/07/25
CRDT- 2023/07/25 06:40
PHST- 2023/07/26 06:43 [medline]
PHST- 2023/07/25 13:08 [pubmed]
PHST- 2023/07/25 06:40 [entrez]
PHST- 2023/07/25 00:00 [pmc-release]
AID - 2237040 [pii]
AID - 10.1080/07853890.2023.2237040 [doi]
PST - ppublish
SO  - Ann Med. 2023;55(2):2237040. doi: 10.1080/07853890.2023.2237040.