PMID- 36816933
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230224
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 13
DP  - 2023
TI  - Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 
      translocation renal cell carcinoma.
PG  - 1116648
LID - 10.3389/fonc.2023.1116648 [doi]
LID - 1116648
AB  - BACKGROUND: Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a group of 
      rare and highly heterogeneous renal cell carcinoma (RCC). The translocation 
      involving TFE3 and different fusion partners lead to overexpression of the 
      chimeric protein. The purpose of this study is to explore the clinicopathological 
      features of Xp11.2 tRCC with four common fusion subtypes. METHODS: We screened 
      out 40 Xp11.2 tRCC patients from January 2007 to August 2021 in our institution. 
      The diagnosis was initially confirmed by TFE3 immunohistochemistry (IHC) and 
      fluorescence in situ hybridization (FISH) assay and their fusion partners were 
      verified by RNA sequencing. Then the 40 cases were divided into two groups (DBHS 
      family and non-DBHS family group) and a clinical comparison among the four common 
      fusion subtypes was performed. RESULTS: Among the 40 cases, 11 cases with 
      SFPQ-TFE3 gene fusion and 7 cases with NONO-TFE3 gene fusion were classified in 
      DBHS group, the remaining cases with ASPL-TFE3 (11 cases) or PRCC-TFE3 (11 cases) 
      gene fusion were classified in non-DBHS group. Lymph node (LN) metastasis 
      (P=0.027) and distant metastasis (P=0.009) were more common seen in non-DBHS 
      family group than DBHS family group and cases in DBHS family group have better 
      progressive-free survival (PFS) (P=0.02). In addition, ASPL-TFE3 fusion was 
      associated with worse outcome (P=0.03) while NONO-TFE3 fusion (P=0.04) predicted 
      a better prognosis. CONCLUSIONS: Different fusion partner genes may play a 
      functional role in various morphology, molecular and biological features of 
      Xp11.2 tRCCs. The impact of fusion partners on clinical characteristics of Xp11.2 
      tRCCs deserves further exploration.
CI  - Copyright (c) 2023 Guo, Zhu, Pu, Guo and Gan.
FAU - Guo, Wei
AU  - Guo W
AD  - Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical 
      University, Nanjing, Jiangsu, China.
AD  - Department of Urology, Taizhou People's Hospital Affiliated to Nanjing Medical 
      University, Taizhou, Jiangsu, China.
FAU - Zhu, Yiqi
AU  - Zhu Y
AD  - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of 
      Nanjing University Medical School, Nanjing, Jiangsu, China.
FAU - Pu, Xiaohong
AU  - Pu X
AD  - Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of 
      Nanjing University Medical School, Nanjing, Jiangsu, China.
FAU - Guo, Hongqian
AU  - Guo H
AD  - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of 
      Nanjing University Medical School, Nanjing, Jiangsu, China.
FAU - Gan, Weidong
AU  - Gan W
AD  - Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical 
      University, Nanjing, Jiangsu, China.
AD  - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of 
      Nanjing University Medical School, Nanjing, Jiangsu, China.
LA  - eng
PT  - Journal Article
DEP - 20230203
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC9935599
OTO - NOTNLM
OT  - DBHS family
OT  - FISH
OT  - TFE3
OT  - Xp11.2 translocation renal cell carcinoma
OT  - prognosis
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- 2023/02/24 06:00
MHDA- 2023/02/24 06:01
PMCR- 2023/01/01
CRDT- 2023/02/23 09:28
PHST- 2022/12/05 00:00 [received]
PHST- 2023/01/16 00:00 [accepted]
PHST- 2023/02/23 09:28 [entrez]
PHST- 2023/02/24 06:00 [pubmed]
PHST- 2023/02/24 06:01 [medline]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2023.1116648 [doi]
PST - epublish
SO  - Front Oncol. 2023 Feb 3;13:1116648. doi: 10.3389/fonc.2023.1116648. eCollection 
      2023.