PMID- 34513665
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220426
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 11
DP  - 2021
TI  - Synchronous Malignant Gastrointestinal Neuroectodermal Tumor and 
      SMARCA4-Deficient Undifferentiated Carcinoma With Independent Origins in the 
      Small Intestine: A Case Report.
PG  - 665056
LID - 10.3389/fonc.2021.665056 [doi]
LID - 665056
AB  - BACKGROUND: Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare 
      malignant mesenchymal neoplasm that commonly arises in the small bowel, stomach 
      or colon. Meanwhile, SMARCA4-deficient undifferentiated carcinoma is a rarely 
      reported entity with highly aggressive behavior that may involve the ovary, lung, 
      gastrointestinal (GI) tract, endometrium and other organs. To our knowledge, we 
      describe for the first time, an extremely rare case of synchronous GNET and 
      SMARCA4-deficient undifferentiated carcinoma with independent origins in the 
      small intestine. CASE PRESENTATION: A 46-year-old woman presented with multiple 
      small intestine masses and underwent surgical resection. Two distinct entities, 
      GNET and SMARCA4-deficient undifferentiated carcinoma, were identified. GNET was 
      composed of epithelioid and spindle cells with clear or eosinophilic cytoplasm 
      arranged in sheets, nest, papillary, fascicular, palisade, rosette like or 
      pseudoalveolar pattern. The neoplastic cells were positive for S-100 and SOX-10. 
      Ewing sarcoma breakpoint region 1 gene (EWSR1) rearrangement was confirmed by 
      fluorescence in situ hybridization (FISH), and EWSR1-CREB1 fusion was revealed by 
      next-generation sequencing (NGS). SMARCA4-deficient undifferentiated carcinoma 
      was composed mainly of poorly adhesive rhabdoid cells with eosinophilic cytoplasm 
      arranged in a diffuse pattern. Multifocal necrosis, brisk mitotic figures as well 
      as multinucleated tumor cells were observed. The neoplastic cells diffusely 
      expressed pancytokeratin and vimentin, and was negative for SMARCA4(BRG1). Frame 
      shift mutation of SMARCA4 was detected by NGS. CONCLUSIONS: This is the first 
      report that GNET and SMARCA4-deficient undifferentiated carcinoma occurred 
      simultaneously in the small intestine, with the latter showing multiple 
      involvement of the jejunum and ileum. The potential mechanism underlying 
      co-existence of these two rare malignancies is unknown and need further 
      investigations and concern.
CI  - Copyright (c) 2021 Chen, Yin, Wang, Li, Chen, Jin, Yang and Wu.
FAU - Chen, Cuimin
AU  - Chen C
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Yin, Weihua
AU  - Yin W
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Wang, Xingen
AU  - Wang X
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Li, Ping
AU  - Li P
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Chen, Yaoli
AU  - Chen Y
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Jin, Xianglan
AU  - Jin X
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Yang, Ping
AU  - Yang P
AD  - Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, China.
FAU - Wu, Huanwen
AU  - Wu H
AD  - Department of Pathology, Peking Union Medical College Hospital, Peking, China.
LA  - eng
PT  - Case Reports
DEP - 20210827
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC8429901
OTO - NOTNLM
OT  - EWSR1
OT  - SMARCA4-deficient undifferentiated carcinoma
OT  - case report
OT  - gastrointestinal neuroectodermal tumor
OT  - small intestine
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/09/14 06:00
MHDA- 2021/09/14 06:01
PMCR- 2021/01/01
CRDT- 2021/09/13 06:54
PHST- 2021/04/23 00:00 [received]
PHST- 2021/08/05 00:00 [accepted]
PHST- 2021/09/13 06:54 [entrez]
PHST- 2021/09/14 06:00 [pubmed]
PHST- 2021/09/14 06:01 [medline]
PHST- 2021/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2021.665056 [doi]
PST - epublish
SO  - Front Oncol. 2021 Aug 27;11:665056. doi: 10.3389/fonc.2021.665056. eCollection 
      2021.