PMID- 35835430
OWN - NLM
STAT- MEDLINE
DCOM- 20220920
LR  - 20220920
IS  - 1879-1336 (Electronic)
IS  - 1054-8807 (Linking)
VI  - 60
DP  - 2022 Sep-Oct
TI  - DICER1-associated sarcoma of the aortic arch - a case report and literature 
      review.
PG  - 107451
LID - S1054-8807(22)00045-X [pii]
LID - 10.1016/j.carpath.2022.107451 [doi]
AB  - Primary sarcoma of the aorta is extremely rare. We herein report a case of 
      DICER1-associated sarcoma originating from the aortic arch. A 45-year-old male 
      was admitted to the hospital with a cold left hand and a weakened radial artery 
      pulse on the left side. Computed tomography of the chest showed multiple 
      penetrating ulcers with tumor-like ectasia at the aortic arch, diagnosed as a 
      pseudoaneurysm. Histopathological analysis of the mass revealed a biphasic 
      neoplasm composed of epithelial and mesenchymal components and a transition zone 
      between the epithelial and mesenchymal cells, which supports the diagnosis of a 
      biphasic sarcoma rather than carcinosarcoma. The differentiated cells of soft 
      tissue showed strong and diffuse positivity for TLE-1, Bcl-2, and CD99; the 
      nested epithelial cells were focally positive for CK-pan but negative for EMA, 
      membranous localization of beta-catenin. This case showed a unique pattern of 
      SS18-break-apart probe, with loss of the green signal (approximately 33%) by 
      fluorescence in situ hybridization (FISH). Fusion gene profiling using whole 
      transcriptome RNA sequencing (RNA-seq) indicated that this case was negative for 
      common fusion genes including SS18. Next-generation sequencing (NGS) revealed 
      somatic mutations in DICER1. Taken together, this case was diagnosed as a 
      DICER-associated biphasic sarcoma of the aortic arch. The patient died four 
      months after aorta replacement therapy without radiotherapy and chemotherapy.
CI  - Copyright (c) 2022. Published by Elsevier Inc.
FAU - Zheng, Yan-Jun
AU  - Zheng YJ
AD  - TEDA Hospital of Tianjin University, Tianjin, China.
FAU - Ren, Ling
AU  - Ren L
AD  - TEDA Hospital of Tianjin University, Tianjin, China.
FAU - Zhu, Yue
AU  - Zhu Y
AD  - TEDA Hospital of Tianjin University, Tianjin, China.
FAU - Yang, Xi
AU  - Yang X
AD  - TEDA Hospital of Tianjin University, Tianjin, China.
FAU - Zhang, Xiang
AU  - Zhang X
AD  - Department of Radiology, Third central hospital of Tianjin Medical University, 
      Tianjin, China.
FAU - Deng, Shu
AU  - Deng S
AD  - Department of Stomatology, Second Hospital of Tianjin Medical University, 
      Tianjin, China.
FAU - Wang, Zheng-Qing
AU  - Wang ZQ
AD  - Department of Cardiovascular Surgery, TEDA International Cardiovascular Hospital 
      of Tianjin University, Tianjin, China.
FAU - Chen, Dong
AU  - Chen D
AD  - Department of Pathology, Affiliated Anzhen Hospital of Capital Medical 
      University, Beijing, China.
FAU - Shao, Yang
AU  - Shao Y
AD  - Nanjing Geneseeq Technology, Inc, Nanjing, China; School of Public Health, 
      Nanjing Medical University, Nanjing, China.
FAU - Han, Peng-Cheng
AU  - Han PC
AD  - Stomatology college, Tianjin Medical University, Tianjin, China.
FAU - Zhang, Qin
AU  - Zhang Q
AD  - TEDA Hospital of Tianjin University, Tianjin, China; Department of Cardiovascular 
      Surgery, TEDA International Cardiovascular Hospital of Tianjin University, 
      Tianjin, China. Electronic address: zhangqin0919@yeah.net.
FAU - Chen, Liqun
AU  - Chen L
AD  - Academy of Medical Engineering and Translational Medicine, Tianjin, 300072, 
      China. Electronic address: liqun.chen@tju.edu.cn.
LA  - eng
PT  - Case Reports
PT  - Review
DEP - 20220712
PL  - United States
TA  - Cardiovasc Pathol
JT  - Cardiovascular pathology : the official journal of the Society for Cardiovascular 
      Pathology
JID - 9212060
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Proto-Oncogene Proteins c-bcl-2)
RN  - 0 (Repressor Proteins)
RN  - 0 (beta Catenin)
RN  - EC 3.1.26.3 (DICER1 protein, human)
RN  - EC 3.1.26.3 (Ribonuclease III)
RN  - EC 3.6.4.13 (DEAD-box RNA Helicases)
SB  - IM
MH  - Aorta, Thoracic/diagnostic imaging/pathology
MH  - Biomarkers, Tumor/genetics
MH  - DEAD-box RNA Helicases/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Proto-Oncogene Proteins/genetics
MH  - Proto-Oncogene Proteins c-bcl-2/genetics
MH  - Repressor Proteins/genetics
MH  - Ribonuclease III/genetics
MH  - *Sarcoma/genetics
MH  - *Sarcoma, Synovial/genetics
MH  - *Soft Tissue Neoplasms/diagnosis/genetics/pathology
MH  - beta Catenin
OTO - NOTNLM
OT  - Aortic arch
OT  - DICER1
OT  - Next-generation sequencing
OT  - Sarcoma
EDAT- 2022/07/15 06:00
MHDA- 2022/09/21 06:00
CRDT- 2022/07/14 19:38
PHST- 2022/02/06 00:00 [received]
PHST- 2022/06/22 00:00 [revised]
PHST- 2022/07/06 00:00 [accepted]
PHST- 2022/07/15 06:00 [pubmed]
PHST- 2022/09/21 06:00 [medline]
PHST- 2022/07/14 19:38 [entrez]
AID - S1054-8807(22)00045-X [pii]
AID - 10.1016/j.carpath.2022.107451 [doi]
PST - ppublish
SO  - Cardiovasc Pathol. 2022 Sep-Oct;60:107451. doi: 10.1016/j.carpath.2022.107451. 
      Epub 2022 Jul 12.