PMID- 26371783
OWN - NLM
STAT- MEDLINE
DCOM- 20160411
LR  - 20181113
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Print)
IS  - 0147-5185 (Linking)
VI  - 40
IP  - 1
DP  - 2016 Jan
TI  - Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal 
      Rhabdomyoblastic Differentiation.
PG  - 51-9
LID - 10.1097/PAS.0000000000000492 [doi]
AB  - Sarcomas arising in the sinonasal region are uncommon and encompass a wide 
      variety of tumor types, including the newly described biphenotypic sinonasal 
      sarcoma (BSNS), which is characterized by a monomorphic spindle cell 
      proliferation with dual neural and myogenic phenotypes. Most BSNSs harbor a 
      pathognomonic PAX3-MAML3 fusion driven by t(2;4)(q35;q31.1), whereas the 
      alternative fusion partner gene remains unidentified in a subset of 
      PAX3-rearranged cases. As NCOA1 on 2p23 is a known partner in PAX3-related 
      fusions in other tumor types (ie, alveolar rhabdomyosarcoma), we investigated its 
      status by fluorescence in situ hybridization (FISH) and reverse transcription 
      polymerase chain reaction assays in 2 BSNS cases showing only PAX3 gene 
      rearrangements. Novel PAX3-NCOA1 fusions were identified in these 2 index cases 
      showing an inv(2)(q35p23) by FISH and confirmed by reverse transcription 
      polymerase chain reaction. Five additional BSNS cases with typical morphology 
      were studied by FISH, revealing a PAX3-MAML3 fusion in 4 cases and only PAX3 
      rearrangement in the remaining case without abnormalities in MAML3 or NCOA1 gene. 
      Except for 1 case with surface ulceration, all other tumors lacked increased 
      mitotic activity or necrosis, and all cases immunohistochemically coexpressed 
      S100 protein and actin, but lacked SOX10 reactivity. Interestingly, the 2 
      PAX3-NCOA1-positive cases showed desmin reactivity and displayed a small 
      component of rhabdomyoblastic cells, which were not seen in the more common 
      PAX3-MAML3 fusion cases. In conclusion, we report a novel PAX3-NCOA1 fusion in 
      BSNS, which appears to be associated with focal rhabdomyoblastic differentiation 
      and should be distinguished from PAX3-NCOA1-positive alveolar rhabdomyosarcoma or 
      malignant Triton tumor. SOX10 immunohistochemistry is a useful marker in 
      distinguishing BSNS from peripheral nerve sheath tumors.
FAU - Huang, Shih-Chiang
AU  - Huang SC
AD  - *Department of Pathology, Chang Gung Memorial Hospital, Chang Gung University, 
      College of Medicine, Taoyuan  section signDepartment of Pathology, Kaohsiung Chang Gung 
      Memorial Hospital, Chang Gung University, College of Medicine, Kaohsiung, Taiwan 
      daggerDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 
      double daggerDepartment of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD.
FAU - Ghossein, Ronald A
AU  - Ghossein RA
FAU - Bishop, Justin A
AU  - Bishop JA
FAU - Zhang, Lei
AU  - Zhang L
FAU - Chen, Tse-Ching
AU  - Chen TC
FAU - Huang, Hsuan-Ying
AU  - Huang HY
FAU - Antonescu, Cristina R
AU  - Antonescu CR
LA  - eng
GR  - P01CA47179/CA/NCI NIH HHS/United States
GR  - P50CA140146-01/CA/NCI NIH HHS/United States
GR  - P30 CA008748/CA/NCI NIH HHS/United States
GR  - P01 CA047179/CA/NCI NIH HHS/United States
GR  - P50 CA140146/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, N.I.H., Extramural
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (PAX3 Transcription Factor)
RN  - 0 (PAX3 protein, human)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0 (SOX10 protein, human)
RN  - 0 (SOXE Transcription Factors)
RN  - EC 2.3.1.48 (NCOA1 protein, human)
RN  - EC 2.3.1.48 (Nuclear Receptor Coactivator 1)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Biomarkers, Tumor/analysis/*genetics
MH  - *Cell Differentiation
MH  - Cell Proliferation
MH  - Diagnosis, Differential
MH  - Female
MH  - *Gene Fusion
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Muscle Tissue/chemistry/*genetics/pathology
MH  - New York City
MH  - Nuclear Receptor Coactivator 1/*genetics
MH  - PAX3 Transcription Factor
MH  - Paired Box Transcription Factors/*genetics
MH  - Paranasal Sinus Neoplasms/chemistry/*genetics/pathology
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - SOXE Transcription Factors/analysis
MH  - Sarcoma/chemistry/*genetics/pathology
MH  - Taiwan
PMC - PMC4679641
MID - NIHMS691131
COIS- Conflict of interest: none
EDAT- 2015/09/16 06:00
MHDA- 2016/04/12 06:00
PMCR- 2017/01/01
CRDT- 2015/09/16 06:00
PHST- 2015/09/16 06:00 [entrez]
PHST- 2015/09/16 06:00 [pubmed]
PHST- 2016/04/12 06:00 [medline]
PHST- 2017/01/01 00:00 [pmc-release]
AID - 10.1097/PAS.0000000000000492 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2016 Jan;40(1):51-9. doi: 10.1097/PAS.0000000000000492.