PMID- 33715240
OWN - NLM
STAT- MEDLINE
DCOM- 20220310
LR  - 20220802
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 60
IP  - 8
DP  - 2021 Aug
TI  - RREB1-MKL2 fusion in a spindle cell sinonasal sarcoma: biphenotypic sinonasal 
      sarcoma or ectomesenchymal chondromyxoid tumor in an unusual site?
PG  - 565-570
LID - 10.1002/gcc.22948 [doi]
AB  - Biphenotypic sinonasal sarcoma (BSNS) is a rare, low grade spindle cell sarcoma, 
      recently recognized in the WHO classification of head and neck tumors, which is 
      characterized by a dual myogenic and neural differentiation and recurrent gene 
      fusions, often involving PAX3-MAML3, and less commonly PAX3 fusions with other 
      partners such as NCOA1, NCOA2, or WWTR1. Yet, in about 4% of tumors no gene 
      rearrangements are identified. Herein, we describe a RREB1-MKL2 fusion in a BSNS 
      lesion occurring in a 73-year-old female patient with a right maxillo-ethmoidal 
      angle lesion. The polypoid, moderately cellular tumor with infiltrative 
      submucosal growth was composed of fascicles of relatively bland spindle cells 
      embedded in a loose collagenous matrix. The tumor cells showed moderate amounts 
      of eosinophilic cytoplasm with indistinct borders and uniform, pale, ovoid to 
      slender nuclei. The slowly proliferating neoplastic cells co-expressed smooth 
      muscle actin and S100, and showed focal nuclear positivity for ss-catenin, while 
      lacking staining for cytokeratins, desmin, myogenin, caldesmon, glial fibrillary 
      acid protein, and SOX-10. Molecular analysis by targeted RNA-based 
      next-generation sequencing identified an in-frame fusion between exon 8 of RREB1 
      and exon 11 of MKL2, a genetic event that was reported to be a molecular hallmark 
      of ectomesenchymal chondromyxoid tumor. Gene rearrangements in both genes were 
      independently verified by fluorescence in situ hybridization (FISH). To evaluate 
      its recurrent potential an additional group of 15 fusion negative BSNS were 
      tested for abnormalities in RREB1 and MKL2 genes by FISH, but no additional 
      positive cases were identified.
CI  - (c) 2021 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals 
      LLC.
FAU - Mechtersheimer, Gunhild
AU  - Mechtersheimer G
AD  - Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
FAU - Andrulis, Mindaugas
AU  - Andrulis M
AD  - Institute of Pathology, General Hospital, Ludwigshafen am Rhein, Germany.
FAU - Delank, Klaus-Wolfgang
AU  - Delank KW
AD  - Department of Otorhinolaryngology, Head and Neck Surgery, General Hospital, 
      Ludwigshafen am Rhein, Germany.
FAU - Volckmar, Anna-Lena
AU  - Volckmar AL
AD  - Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - von Winterfeld, Moritz
AU  - von Winterfeld M
AD  - Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
FAU - Stenzinger, Albrecht
AU  - Stenzinger A
AUID- ORCID: 0000-0003-1001-103X
AD  - Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
FAU - R Antonescu, Cristina
AU  - R Antonescu C
AUID- ORCID: 0000-0002-9717-8205
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
LA  - eng
GR  - P30 CA008748/CA/NCI NIH HHS/United States
GR  - P50 CA217694/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210410
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Actins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (MRTFB protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RREB1 protein, human)
RN  - 0 (SOX10 protein, human)
RN  - 0 (SOXE Transcription Factors)
RN  - 0 (Transcription Factors)
RN  - 0 (beta Catenin)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Actins/genetics/metabolism
MH  - Aged
MH  - Carcinoma/*genetics/pathology
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Humans
MH  - Keratins/metabolism
MH  - Nose Neoplasms/*genetics/pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - *Phenotype
MH  - SOXE Transcription Factors/metabolism
MH  - Transcription Factors/*genetics
MH  - beta Catenin/metabolism
PMC - PMC9336521
MID - NIHMS1820955
OTO - NOTNLM
OT  - MKL2
OT  - RREB1
OT  - biphenotypic sinonasal sarcoma
OT  - gene fusion
COIS- CONFLICT OF INTEREST The authors have disclosed that they have no significant 
      relationships with, or financial interest in, any commercial companies pertaining 
      to this article.
EDAT- 2021/03/15 06:00
MHDA- 2022/03/11 06:00
PMCR- 2022/08/01
CRDT- 2021/03/14 21:08
PHST- 2021/03/09 00:00 [revised]
PHST- 2020/12/22 00:00 [received]
PHST- 2021/03/10 00:00 [accepted]
PHST- 2021/03/15 06:00 [pubmed]
PHST- 2022/03/11 06:00 [medline]
PHST- 2021/03/14 21:08 [entrez]
PHST- 2022/08/01 00:00 [pmc-release]
AID - 10.1002/gcc.22948 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2021 Aug;60(8):565-570. doi: 10.1002/gcc.22948. Epub 
      2021 Apr 10.