PMID- 31277953
OWN - NLM
STAT- MEDLINE
DCOM- 20200224
LR  - 20200224
IS  - 1618-0631 (Electronic)
IS  - 0344-0338 (Linking)
VI  - 215
IP  - 9
DP  - 2019 Sep
TI  - Xp11.2 translocation renal neoplasm with features of TFE3 rearrangement 
      associated renal cell carcinoma and Xp11 translocation renal mesenchymal tumor 
      with melanocytic differentiation harboring NONO-TFE3 fusion gene.
PG  - 152521
LID - S0344-0338(19)30378-4 [pii]
LID - 10.1016/j.prp.2019.152521 [doi]
AB  - Xp11.2 translocation/TFE3 rearrangement-associated renal cell carcinoma (RCC) and 
      Xp11 translocation renal mesenchymal tumor are distinct tumor entity. To broaden 
      the spectrum of Xp11 neoplasms, we investigated a novel tumor exhibiting 
      morphologies overlapping Xp11.2 translocation/TFE3 rearrangement-associated RCC 
      and the mesenchymal counterpart with melanocytic differentiation by 
      immunohistochemistry, fluorescence in situ hybridization (FISH) and RNA 
      sequencing, as well as literature review. Histologically, the tumor was composed 
      of three different types of tumor cells, including a large proportion of clear 
      cells, small round cells, and a few spindle cells, presenting a relatively clear 
      border in the majority area. The nuclei of all tumor cells showed extensively and 
      strong positive expressions of TFE3. Whereas, the clear cells positively 
      expressed the RCC-related markers including PAX8, RCC marker and CD10, and 
      negatively expressed HMB45; On the contrary, the small round cells and spindle 
      cells positively expressed melanocytic marker HMB45, and negatively expressed 
      PAX8, RCC marker and CD10. The ki67 index was higher in the small round cells and 
      spindle cells than that in the clear cells. FISH revealed the rearrangement of 
      TFE3 gene in all the three types of cells. The NONO-TFE3 fusion gene was detected 
      in all tumor cells by RNA sequencing. This unique Xp11 translocation-associated 
      neoplasm might represent a distinct entity overlapping Xp11 translocation RCC and 
      the mesenchymal counterpart with melanocytic differentiation, broadening the 
      spectrum of Xp11 neoplasms. The patient died of tumor recurrence and lung 
      metastasis after seven months after the surgery suggesting those tumors have an 
      unfavorable prognosis.
CI  - Copyright (c) 2019 Elsevier GmbH. All rights reserved.
FAU - Yu, Wenjuan
AU  - Yu W
AD  - Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, 
      266003, China. Electronic address: wenjuan801023@163.com.
FAU - Wang, Yuewei
AU  - Wang Y
AD  - Department of Vascular Surgery, The Affiliated Hospital of Qingdao University, 
      Qingdao, 266003, China.
FAU - Rao, Qiu
AU  - Rao Q
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, 210002, China.
FAU - Jiang, Yanxia
AU  - Jiang Y
AD  - Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, 
      266003, China.
FAU - Zhang, Wei
AU  - Zhang W
AD  - Department of Pathology, 971 Hospital of Navy of Chinese People's Liberation 
      Army, NO. 22 Minjiang Rd. Qingdao, 266071, China. Electronic address: 
      zhangwei686538@126.com.
FAU - Li, Yujun
AU  - Li Y
AD  - Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, 
      266003, China. Electronic address: yujunli66@126.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190627
PL  - Germany
TA  - Pathol Res Pract
JT  - Pathology, research and practice
JID - 7806109
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (NONO protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
MH  - Carcinoma, Renal Cell/*genetics/*pathology
MH  - Cell Differentiation
MH  - Chromosomes, Human, X/genetics
MH  - DNA-Binding Proteins/genetics
MH  - Fatal Outcome
MH  - Gene Rearrangement
MH  - Humans
MH  - Kidney Neoplasms/*genetics/*pathology
MH  - Male
MH  - Melanocytes/pathology
MH  - Middle Aged
MH  - Neoplasms, Multiple Primary/*genetics/*pathology
MH  - Oncogene Proteins, Fusion/genetics
MH  - RNA-Binding Proteins/genetics
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - Melanocytic differentiation
OT  - Mesenchymal tumor
OT  - NONO-TFE3
OT  - Renal cell carcinoma
OT  - Xp11.2 translocation/TFE3 rearrangement
EDAT- 2019/07/07 06:00
MHDA- 2020/02/25 06:00
CRDT- 2019/07/07 06:00
PHST- 2019/03/06 00:00 [received]
PHST- 2019/06/01 00:00 [revised]
PHST- 2019/06/26 00:00 [accepted]
PHST- 2019/07/07 06:00 [pubmed]
PHST- 2020/02/25 06:00 [medline]
PHST- 2019/07/07 06:00 [entrez]
AID - S0344-0338(19)30378-4 [pii]
AID - 10.1016/j.prp.2019.152521 [doi]
PST - ppublish
SO  - Pathol Res Pract. 2019 Sep;215(9):152521. doi: 10.1016/j.prp.2019.152521. Epub 
      2019 Jun 27.