PMID- 34917511
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220429
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 11
DP  - 2021
TI  - Xp11.2 Translocation Renal Cell Carcinoma With TFE3 Rearrangement: Distinct 
      Morphological Features and Prognosis With Different Fusion Partners.
PG  - 784993
LID - 10.3389/fonc.2021.784993 [doi]
LID - 784993
AB  - BACKGROUND: Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 
      gene fusion is a rare and new subtype of RCC and was classified by the WHO in 
      2004. Since then, multiple 5' fusion partners for TFE3 have been reported; 
      however, the impact of individual fusion variant on specific clinicopathologic 
      features of Xp11.2 RCCs has not been well defined. METHODS: Four Xp11.2 
      translocation RCCs were identified by morphological, immunostaining, and 
      fluorescence in situ hybridization (FISH) assays from 200 patients who attended 
      Guangdong General Hospital between January 2017 and January 2020. All these four 
      cases were further analyzed by RNA sequencing to explore their TFE3 gene fusion 
      partners. The clinicopathologic features, including clinical manifestations, 
      pathological findings, treatment strategies, clinical outcomes, and follow-up 
      information on Xp11.2 translocation RCCs, were recorded and evaluated. RESULTS: 
      These four cases affected one male and three females. The median age was 13 years 
      at the time of diagnosis (range = 4-20 years). All the examined tumors were 
      unilateral and unifocal. The largest diameter of these tumors ranged from 2.0 to 
      10.0 cm, and the average was 5.55 cm. Regional lymph node or distant metastasis 
      developed in two patients. Three cases demonstrated known fusions: ASPCR1-TFE3 
      (two cases) and PRCC-TFE3 (one case). However, one case showed an unreported 
      VCP-TFE3 fusion gene in Xp11.2 translocation RCCs. Immunohistochemistry results 
      revealed tumor cells diffusely positive for TFE3, but have no consistency in 
      other markers. Moreover, there were different clinical prognoses among the 
      different variant TFE3 rearrangements; RCC patients with VCP-TFE3 translocation 
      had worse prognosis compared to those with other fusion types. Follow-up were 
      available for all the patients and ranged from 3 to 36 months. Three patients 
      were without evidence of disease progression, while that with VCP-TFE3 fusion 
      died of the disease 3 months after the diagnosis. CONCLUSION: In conclusion, our 
      data expand the list of TFE3 gene fusion partners and the clinicopathologic 
      features of Xp11.2 RCCs with specific TFE3 gene fusions. We identified a novel 
      VCP-TFE3 fusion in Xp11.2 translocation RCCs for the first time, which has unique 
      morphology and worse prognosis than those with other variant TFE3 rearrangements. 
      Integration of morphological, immunohistochemical, and molecular methods is often 
      necessary for the precise diagnosis and optimal clinical management of malignant 
      tumors.
CI  - Copyright (c) 2021 Ge, Lin, Zhang, Lin, Luo, Wang and Li.
FAU - Ge, Yan
AU  - Ge Y
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
FAU - Lin, Xingtao
AU  - Lin X
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
FAU - Zhang, Qingling
AU  - Zhang Q
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
FAU - Lin, Danyi
AU  - Lin D
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
FAU - Luo, Luqiao
AU  - Luo L
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
FAU - Wang, Huiling
AU  - Wang H
AD  - Department of General Surgery, Guangdong Provincial People's Hospital/Guangdong 
      Academy of Medical Sciences, Guangzhou, China.
FAU - Li, Zhi
AU  - Li Z
AD  - Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy 
      of Medical Sciences, Guangzhou, China.
LA  - eng
PT  - Journal Article
DEP - 20211130
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC8668609
OTO - NOTNLM
OT  - TFE3
OT  - VCP
OT  - Xp11.2 translocation
OT  - rearrangement
OT  - renal cell carcinoma
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- 2021/12/18 06:00
MHDA- 2021/12/18 06:01
PMCR- 2021/01/01
CRDT- 2021/12/17 06:58
PHST- 2021/10/13 00:00 [received]
PHST- 2021/11/08 00:00 [accepted]
PHST- 2021/12/17 06:58 [entrez]
PHST- 2021/12/18 06:00 [pubmed]
PHST- 2021/12/18 06:01 [medline]
PHST- 2021/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2021.784993 [doi]
PST - epublish
SO  - Front Oncol. 2021 Nov 30;11:784993. doi: 10.3389/fonc.2021.784993. eCollection 
      2021.