PMID- 28281318
OWN - NLM
STAT- MEDLINE
DCOM- 20180830
LR  - 20210904
IS  - 1750-3639 (Electronic)
IS  - 1015-6305 (Print)
IS  - 1015-6305 (Linking)
VI  - 28
IP  - 2
DP  - 2018 Mar
TI  - Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: 
      myxoid variant of angiomatoid fibrous histiocytoma or novel entity?
PG  - 183-191
LID - 10.1111/bpa.12504 [doi]
AB  - Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of 
      genes was recently described, and it resembles the myxoid variant of angiomatoid 
      fibrous histiocytoma. We present three pediatric patients with intracranial 
      EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic 
      characterization of these tumors. Clinical histories and imaging results were 
      reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ 
      hybridization (FISH), and next-generation sequencing (NGS) were performed. A 
      12-year-old male (case 1), 14-year-old female (case 2), and 18-year-old male 
      (case 3), presented with headaches, emesis, and seizures, respectively. The 
      magnetic resonance images demonstrated tumors abutting the dura (cases 1 and 3) 
      and in the third ventricle (case 2). All tumors were vascular, with solid sheets 
      of monomorphic oval cells in a prominent myxoid/microcystic matrix. A thin 
      fibrous pseudocapsule was present in all lesions, but definitive lymphocytic 
      cuffing was absent. Morphologically, they closely resembled myxoid variant of 
      angiomatoid fibrous histiocytoma. Mitoses were rare, and necrosis was absent. All 
      tumors expressed desmin and GLUT1, and focal EMA and CD99. The proliferation 
      index was low. FISH and NGS showed EWSR1-CREB1 fusion (cases 1 and 2), and 
      EWSR1-CREM fusion (case 3). There were no FUS (16p11.2) or NR4A3 (9q22.33) 
      rearrangements in case 3. Gains of 5q (including KCNIP1) and 11q (including 
      CCND1) were present in cases 1 and 2. There were no common pathogenic genomic 
      changes other than EWSR1 rearrangements across cases. CNS myxoid mesenchymal 
      neoplasms with histological and immunophenotypic similarities to myxoid variant 
      of AFH are rare, diagnostically challenging, and harbor EWSR1-CREB1 and also a 
      novel EWSR1-CREM fusion not yet described in AFH. Therefore, it is uncertain if 
      these tumors represent variants of AFH or a new entity. The copy number and 
      mutational changes presented here provide support for future studies to further 
      clarify this issue.
CI  - (c) 2017 International Society of Neuropathology.
FAU - Bale, Tejus A
AU  - Bale TA
AD  - Department of Pathology, Brigham and Women Hospital, Boston, MA.
FAU - Oviedo, Angelica
AU  - Oviedo A
AD  - Department of Pathology Laboratory Medicine, IWK Health Center, Halifax, NS.
FAU - Kozakewich, Harry
AU  - Kozakewich H
AD  - Department of Pathology, Boston Children's Hospital, Boston, MA.
FAU - Giannini, Caterina
AU  - Giannini C
AD  - Department of Pathology, Mayo Clinic, Rochester, MN.
FAU - Davineni, Phani K
AU  - Davineni PK
AD  - Department of Pathology, Brigham and Women Hospital, Boston, MA.
FAU - Ligon, Keith
AU  - Ligon K
AD  - Department of Pathology, Brigham and Women Hospital, Boston, MA.
AD  - Department of Pathology, Boston Children's Hospital, Boston, MA.
FAU - Alexandrescu, Sanda
AU  - Alexandrescu S
AUID- ORCID: 0000-0001-9246-4184
AD  - Department of Pathology, Boston Children's Hospital, Boston, MA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170411
PL  - Switzerland
TA  - Brain Pathol
JT  - Brain pathology (Zurich, Switzerland)
JID - 9216781
RN  - 0 (CREB1 protein, human)
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (EWSR1-CREB1 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - Histiocytoma, Angiomatoid Fibrous
SB  - IM
MH  - Adolescent
MH  - Brain Neoplasms/diagnostic imaging/genetics/*pathology
MH  - Child
MH  - Cyclic AMP Response Element-Binding Protein/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - *Gene Fusion
MH  - Histiocytoma, Malignant Fibrous/diagnosis/genetics/pathology
MH  - Humans
MH  - Male
MH  - Mesenchymal Stem Cells/*pathology
MH  - Myxoma/diagnostic imaging/genetics/*pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA-Binding Protein EWS/*genetics
PMC - PMC8028671
OTO - NOTNLM
OT  - BRAF
OT  - CREB1
OT  - CREM
OT  - EWSR1
OT  - myxoid mesenchymal tumor
OT  - myxoid variant angiomatoid fibrous histiocytoma
OT  - next-generation sequencing
EDAT- 2017/03/11 06:00
MHDA- 2018/08/31 06:00
PMCR- 2017/04/11
CRDT- 2017/03/11 06:00
PHST- 2017/02/18 00:00 [received]
PHST- 2017/02/27 00:00 [accepted]
PHST- 2017/03/11 06:00 [pubmed]
PHST- 2018/08/31 06:00 [medline]
PHST- 2017/03/11 06:00 [entrez]
PHST- 2017/04/11 00:00 [pmc-release]
AID - BPA12504 [pii]
AID - 10.1111/bpa.12504 [doi]
PST - ppublish
SO  - Brain Pathol. 2018 Mar;28(2):183-191. doi: 10.1111/bpa.12504. Epub 2017 Apr 11.