PMID- 34990868
OWN - NLM
STAT- MEDLINE
DCOM- 20220321
LR  - 20220321
IS  - 1618-0631 (Electronic)
IS  - 0344-0338 (Linking)
VI  - 230
DP  - 2022 Feb
TI  - A group of sclerosing epithelioid fibrosarcomas with low-level amplified 
      EWSR1-CREB3L1 fusion gene in children.
PG  - 153754
LID - S0344-0338(21)00415-5 [pii]
LID - 10.1016/j.prp.2021.153754 [doi]
AB  - Sclerosing epithelioid fibrosarcoma (SEF), typically arising in middle-aged and 
      older adults, is a rare malignant fibroblastic neoplasm characterized by 
      epithelioid fibroblasts embedded in sclerotic hyalinized stroma. This tumor 
      frequently harbors translocation between EWSR1 and CREB3 subfamily members. Here, 
      we describe four cases of SEF with unique genetic characteristics in children. 
      All tumors were located in the deep soft tissue of the trunk and celom. 
      Histopathologically, the tumors were featured by prominent hyalinized sclerotic 
      collagenous stroma within which relatively bland and monomorphic epithelioid 
      cells were arranged in cords, nests, or sheets. Low-grade fibromyxoid 
      sarcoma-like zones varied among cases. MUC4 was strong and diffuse. CD99 was 
      positive. Transmission electron microscopy demonstrated spindle or polyhedral 
      neoplastic cells with a collagen fiber-rich stroma. Interphase fluorescence in 
      situ hybridization (FISH) revealed local amplification of the EWSR1 locus. 
      Whole-genome sequencing indicated translocation between EWSR1 and CREB3L1 
      together with low-level amplification of the fusion parts. RT-PCR and Sanger 
      sequencing confirmed the fusion transcript. Single nucleotide polymorphism and 
      FISH analyses demonstrated co-deletion of 11p and 22q. The consistent genetic 
      features indicated the presence of a unique molecular variant of SEF. DATA 
      AVAILABILITY STATEMENT: The data used to support the findings of this study are 
      available from the corresponding author upon request.
CI  - Copyright (c) 2022 Elsevier GmbH. All rights reserved.
FAU - Zhang, Meng
AU  - Zhang M
AD  - Department of Pathology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health (NCCH), Beijing, China.
FAU - Yu, Yongbo
AU  - Yu Y
AD  - Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck 
      Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, 
      Capital Medical University, National Center for Children's Health (NCCH), 
      Beijing, China.
FAU - Guan, Xiaoxing
AU  - Guan X
AD  - Department of Pathology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health (NCCH), Beijing, China.
FAU - Yao, Xingfeng
AU  - Yao X
AD  - Department of Pathology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health (NCCH), Beijing, China.
FAU - Jia, Chao
AU  - Jia C
AD  - Department of Pathology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health (NCCH), Beijing, China.
FAU - Hong, Enyu
AU  - Hong E
AD  - Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck 
      Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, 
      Capital Medical University, National Center for Children's Health (NCCH), 
      Beijing, China.
FAU - Guo, Yongli
AU  - Guo Y
AD  - Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck 
      Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, 
      Capital Medical University, National Center for Children's Health (NCCH), 
      Beijing, China.
FAU - He, Lejian
AU  - He L
AD  - Department of Pathology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health (NCCH), Beijing, China. Electronic address: 
      lejianhe@sina.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20211230
PL  - Germany
TA  - Pathol Res Pract
JT  - Pathology, research and practice
JID - 7806109
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CREB3L1 protein, human)
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (RNA-Binding Protein EWS)
SB  - IM
MH  - Biomarkers, Tumor/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Cyclic AMP Response Element-Binding Protein/*genetics
MH  - Epithelioid Cells/ultrastructure
MH  - Female
MH  - Fibrosarcoma/*genetics/ultrastructure
MH  - *Gene Amplification
MH  - *Gene Fusion
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nerve Tissue Proteins/*genetics
MH  - Phenotype
MH  - RNA-Binding Protein EWS/*genetics
MH  - Sclerosis
MH  - Soft Tissue Neoplasms/*genetics/ultrastructure
MH  - Whole Genome Sequencing
OTO - NOTNLM
OT  - CREB3L1
OT  - EWSR1
OT  - Low-level amplification
OT  - Sclerosing epithelioid fibrosarcoma
EDAT- 2022/01/07 06:00
MHDA- 2022/03/22 06:00
CRDT- 2022/01/06 20:16
PHST- 2021/07/04 00:00 [received]
PHST- 2021/12/24 00:00 [revised]
PHST- 2021/12/28 00:00 [accepted]
PHST- 2022/01/07 06:00 [pubmed]
PHST- 2022/03/22 06:00 [medline]
PHST- 2022/01/06 20:16 [entrez]
AID - S0344-0338(21)00415-5 [pii]
AID - 10.1016/j.prp.2021.153754 [doi]
PST - ppublish
SO  - Pathol Res Pract. 2022 Feb;230:153754. doi: 10.1016/j.prp.2021.153754. Epub 2021 
      Dec 30.