PMID- 31103034
OWN - NLM
STAT- MEDLINE
DCOM- 20191227
LR  - 20200225
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 14
IP  - 1
DP  - 2019 May 18
TI  - Desmoplastic small round cell tumor of the parotid gland-report of a rare case 
      and a review of the literature.
PG  - 43
LID - 10.1186/s13000-019-0825-1 [doi]
LID - 43
AB  - BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare soft tissue 
      tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery 
      in younger patients. However, extra-abdominal DSRCT is very rare. CASE 
      PRESENTATION: A 49-year-old Japanese man noticed a mass in the right parotid 
      gland. Ultrasound examination revealed a solid tumor about 2 cm in diameter. 
      Computed tomography (CT) of the whole body revealed no other tumors or lymph node 
      swelling. Superficial parotidectomy was performed. Histologically, the tumor was 
      composed of various-sized tumor cell nests in an abundant fibromyxoid and 
      collagenous background. The tumor cells were small to medium-sized. 
      Immunohistochemistry showed that the tumor cells were immunoreactive for 
      epithelial markers and desmin. They also showed strong nuclear staining with a 
      Wilms tumor 1 (WT1) antibody detecting the C-terminal region (C-WT1), but not the 
      N-terminal region (N-WT1). We also performed 3'/5' expression imbalance assay 
      based on reverse transcription polymerase chain reaction (RT-PCR) to determine 
      whether aberrant WT1 gene expression was present. This tumor was found to lack 
      5'-regional expression of the WT1 gene, as well as immunoreactivity with the 
      N-WT1 antibody. Finally, fluorescence in situ hybridization (FISH) and RT-PCR 
      analyses revealed the presence of a gene showing fusion between exon 7 of EWSR1 
      and exon 8 of WT1. The tumor was diagnosed as a DSRCT of the right parotid gland. 
      The patient has been followed for 3 years without recurrence or metastasis. 
      CONCLUSIONS: Although DSRCT in the salivary gland is extremely rare, it should be 
      included in the differential diagnosis of poorly differentiated salivary gland 
      neoplasms, especially with a fibromyxoid background. Pathologists should bear in 
      mind that DSRCT may occur in major salivary glands and should perform 
      immunohistochemistry with appropriate antibodies, not only those against keratin 
      and desmin, but also one detecting the C-terminal region of WT-1. Furthermore, 
      molecular detection of EWSR1-WT1 fusion gene conclusively confirmed the diagnosis 
      of DSRCT in this uncommon location.
FAU - Hatanaka, Kanako C
AU  - Hatanaka KC
AD  - Department of Surgical Pathology, Hokkaido University Hospital, N14W4, Kita-ku, 
      Sapporo, Japan. kyanack@huhp.hokudai.ac.jp.
FAU - Takakuwa, Emi
AU  - Takakuwa E
AD  - Department of Surgical Pathology, Hokkaido University Hospital, N14W4, Kita-ku, 
      Sapporo, Japan.
FAU - Hatanaka, Yutaka
AU  - Hatanaka Y
AD  - Department of Surgical Pathology, Hokkaido University Hospital, N14W4, Kita-ku, 
      Sapporo, Japan.
FAU - Suzuki, Akira
AU  - Suzuki A
AD  - Department of Pathology, KKR, Sapporo Medical Center, 1-6, hiragishi, 
      Toyohira-ku, Sapporo, Japan.
FAU - IIzuka, Satoshi
AU  - IIzuka S
AD  - Department of otorhinolaryngology, Hakodate Central General Hospital, 33-2, 
      Honcho, Hakodate, Japan.
FAU - Tsushima, Nayuta
AU  - Tsushima N
AD  - Department of otorhinolaryngology, Hakodate Central General Hospital, 33-2, 
      Honcho, Hakodate, Japan.
FAU - Mitsuhashi, Tomoko
AU  - Mitsuhashi T
AD  - Department of Surgical Pathology, Hokkaido University Hospital, N14W4, Kita-ku, 
      Sapporo, Japan.
FAU - Sugita, Shintaro
AU  - Sugita S
AD  - Department of Surgical Pathology, Sapporo Medical University School of Medicine, 
      S1W16, chou-ku, Sapporo, Japan.
FAU - Homma, Akihiro
AU  - Homma A
AD  - Department of Otolaryngology-Head & Neck Surgery, Faculty of Medicine and 
      Graduate School of Medicine, Hokkaido University, N15W7, Kita-ku, Sapporo, Japan.
FAU - Morinaga, Shojiroh
AU  - Morinaga S
AD  - Department of Diagnostic Pathology, Hino Municipal Hospital, 4-3-1, Tamadaira, 
      Hino, Tokyo, Japan.
FAU - Hashegawa, Tadashi
AU  - Hashegawa T
AD  - Department of Otolaryngology-Head & Neck Surgery, Faculty of Medicine and 
      Graduate School of Medicine, Hokkaido University, N15W7, Kita-ku, Sapporo, Japan.
FAU - Matsuno, Yoshihiro
AU  - Matsuno Y
AD  - Department of Surgical Pathology, Hokkaido University Hospital, N14W4, Kita-ku, 
      Sapporo, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20190518
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (EWSR1 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (WT1 Proteins)
RN  - 0 (WT1 protein, human)
SB  - IM
MH  - Desmoplastic Small Round Cell Tumor/*diagnostic imaging/genetics/pathology
MH  - Diagnosis, Differential
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion
MH  - Parotid Gland/diagnostic imaging/pathology
MH  - Parotid Neoplasms/*diagnostic imaging/genetics/pathology
MH  - RNA-Binding Protein EWS/*genetics
MH  - WT1 Proteins/*genetics
PMC - PMC6525968
OTO - NOTNLM
OT  - 3'/5' expression imbalance assay
OT  - C-terminal region
OT  - Desmoplastic small round cell tumor
OT  - Salivary gland
OT  - WT1
COIS- The authors declare that they have no competing interests.
EDAT- 2019/05/20 06:00
MHDA- 2019/12/28 06:00
PMCR- 2019/05/18
CRDT- 2019/05/20 06:00
PHST- 2018/11/09 00:00 [received]
PHST- 2019/05/13 00:00 [accepted]
PHST- 2019/05/20 06:00 [entrez]
PHST- 2019/05/20 06:00 [pubmed]
PHST- 2019/12/28 06:00 [medline]
PHST- 2019/05/18 00:00 [pmc-release]
AID - 10.1186/s13000-019-0825-1 [pii]
AID - 825 [pii]
AID - 10.1186/s13000-019-0825-1 [doi]
PST - epublish
SO  - Diagn Pathol. 2019 May 18;14(1):43. doi: 10.1186/s13000-019-0825-1.