PMID- 29924341
OWN - NLM
STAT- MEDLINE
DCOM- 20191003
LR  - 20191007
IS  - 1554-6578 (Electronic)
IS  - 0022-3069 (Linking)
VI  - 77
IP  - 8
DP  - 2018 Aug 1
TI  - Molecular and Clinicopathologic Heterogeneity of Intracranial Tumors Mimicking 
      Extraskeletal Myxoid Chondrosarcoma.
PG  - 727-735
LID - 10.1093/jnen/nly050 [doi]
AB  - Primary intracranial neoplasms with features of extraskeletal myxoid 
      chondrosarcomas (EMC) are extremely rare and poorly characterized tumors with 
      only  approximately 12 cases described, the majority lacking molecular confirmation. There is 
      an urgent need for the integration of molecular studies for correct 
      subclassification of these tumors in order to predict clinical behavior, guide 
      therapeutic decision-making, and provide novel targets for therapy. Clinical and 
      pathologic data of 3 intracranial EMC-like myxoid neoplasms were retrospectively 
      reviewed. In 2/3 cases, immunohistochemistry showed loss of nuclear 
      SWI/SNF-related matrix-associated actin-dependent regulator of chromatin 
      subfamily B member 1 (SMARCB1; integrase interactor 1 [INI1]) staining 
      accompanied by monosomy of chromosome 22q (fluorescence in situ hybridization 
      [FISH]). These 2 cases had no evidence of any fusion products by next generation 
      sequencing (NGS). The third case had intact SMARCB1 expression and showed instead 
      a rearrangement of the EWSR1 gene detected by FISH, with an EWSR1-CREB1 gene 
      fusion on NGS. None of the cases showed rearrangement of the NR4A3 gene, neither 
      by FISH nor by NGS. This small case series highlights the molecular heterogeneity 
      of intracranial neoplasms in the morphologic spectrum of EMC. Distinct molecular 
      alterations found in tumors with morphologic features of EMC encompass 
      SMARCB1(INI1) loss and EWSR1-CREB gene fusions. None of the cases showed 
      rearrangements of NR4A3 genes, suggesting they are distinct from conventional 
      EMC.
FAU - Velz, Julia
AU  - Velz J
AD  - Department of Neurosurgery, Clinical Neuroscience Center, University Hospital 
      Zurich, Zurich, Switzerland.
AD  - University of Zurich, Zurich, Switzerland.
FAU - Agaimy, Abbas
AU  - Agaimy A
AD  - Department of Pathology, University Hospital Erlangen, Erlangen, Germany.
FAU - Frontzek, Karl
AU  - Frontzek K
AD  - University of Zurich, Zurich, Switzerland.
AD  - Department of Neuropathology, Clinical Neuroscience Center.
FAU - Neidert, Marian Christoph
AU  - Neidert MC
AD  - Department of Neurosurgery, Clinical Neuroscience Center, University Hospital 
      Zurich, Zurich, Switzerland.
AD  - University of Zurich, Zurich, Switzerland.
FAU - Bozinov, Oliver
AU  - Bozinov O
AD  - Department of Neurosurgery, Clinical Neuroscience Center, University Hospital 
      Zurich, Zurich, Switzerland.
AD  - University of Zurich, Zurich, Switzerland.
FAU - Wagner, Ulrich
AU  - Wagner U
AD  - University of Zurich, Zurich, Switzerland.
AD  - Institute of Pathology and Molecular Pathology, University Hospital Zurich, 
      Zurich, Switzerland.
FAU - Fritz, Christine
AU  - Fritz C
AD  - University of Zurich, Zurich, Switzerland.
AD  - Institute of Pathology and Molecular Pathology, University Hospital Zurich, 
      Zurich, Switzerland.
FAU - Coras, Roland
AU  - Coras R
AD  - Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
FAU - Hofer, Silvia
AU  - Hofer S
AD  - Department of Oncology, Hospital Lucerne, Lucerne, Switzerland.
FAU - Bode-Lesniewska, Beata
AU  - Bode-Lesniewska B
AD  - University of Zurich, Zurich, Switzerland.
AD  - Institute of Pathology and Molecular Pathology, University Hospital Zurich, 
      Zurich, Switzerland.
FAU - Rushing, Elisabeth
AU  - Rushing E
AD  - University of Zurich, Zurich, Switzerland.
AD  - Department of Neuropathology, Clinical Neuroscience Center.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Neuropathol Exp Neurol
JT  - Journal of neuropathology and experimental neurology
JID - 2985192R
RN  - Chondrosarcoma, Extraskeletal Myxoid
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Brain Neoplasms/diagnostic imaging/*genetics/*pathology
MH  - Child
MH  - Chondrosarcoma/diagnostic imaging/*genetics/*pathology
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Connective and Soft Tissue/diagnostic imaging/*genetics/*pathology
MH  - Young Adult
EDAT- 2018/06/21 06:00
MHDA- 2019/10/08 06:00
CRDT- 2018/06/21 06:00
PHST- 2018/06/21 06:00 [pubmed]
PHST- 2019/10/08 06:00 [medline]
PHST- 2018/06/21 06:00 [entrez]
AID - 5039938 [pii]
AID - 10.1093/jnen/nly050 [doi]
PST - ppublish
SO  - J Neuropathol Exp Neurol. 2018 Aug 1;77(8):727-735. doi: 10.1093/jnen/nly050.