PMID- 28072975
OWN - NLM
STAT- MEDLINE
DCOM- 20170719
LR  - 20181202
IS  - 0529-5807 (Print)
IS  - 0529-5807 (Linking)
VI  - 46
IP  - 1
DP  - 2017 Jan 8
TI  - [Molecular features of metanephric adenoma and their values in differential 
      diagnosis].
PG  - 38-42
LID - 10.3760/cma.j.issn.0529-5807.2017.01.009 [doi]
AB  - Objective: To study the molecular features of metanephric adenoma (MA) and 
      discuss their values in differential diagnosis. Methods: BRAF V600E 
      immunohistochemistry (IHC) using the mutation-specific VE1 monoclonal antibody 
      and Sanger sequencing of BRAF mutations were performed on 21 MAs, 16 
      epithelial-predominant Wilms tumors (e-WT) and 20 the solid variant of papillary 
      renal cell carcinomas (s-PRCC) respectively. p16 protein was detected by IHC 
      also. Fluorescence in situ hybridization (FISH) analyses using centromeric probes 
      for chromosome 7 and 17 were performed on the three renal tumors in parallel. 
      Results: Fourteen (14/21, 66.7%) of 21 MA cases demonstrated diffuse, moderate to 
      strong cytoplasmic BRAF V600E IHC staining and the BRAF V600E protein expression 
      was detected in 2 (2/16) of 16 e-WT cases for the first time, whereas all s-PRCCs 
      were negative (P<0.05). All cases (including 14 MAs and 2 e-WTs) with diffuse, 
      moderate to strong cytoplasmic BRAF V600E IHC staining were confirmed to harbor 
      BRAF V600E missense mutations using Sanger sequencing, and no BRAF mutations were 
      detected in cases with negative BRAF V600E protein expression. One case (1/21, 
      4.8%) showed trisomy of chromosome 7 alone, and another one (1/21, 4.8%) showed 
      trisomy of chromosome 17 alone in 21 MAs. Two cases (2/16) of 16 e-WTs showed 
      trisomy of chromosome 17 alone. In 20 s-PRCCs, trisomy of chromosomes 7 alone was 
      reported in 2 cases (2/20), trisomy of chromosome 17 alone in 3 cases (3/20) and 
      trisomy of chromosome 7 and 17 in 14 cases (14/20). The total positive rates of 
      trisomy of chromosome 7 and/or 17 in MAs, e-WTs and s-PRCCs were 9.6% (2/21), 
      2/16 and 95.0% (19/20). p16 protein was positive in 81.0% (17/21) MAs, whereas 
      the positive rates in e-WTs and s-PRCCs were 2/16 and 5.0% (1/20). Conclusions: 
      Most MAs harbor BRAF V600E mutations, and MAs lack the gains of chromosome 7 and 
      17 that are characteristic of papillary renal cell carcinoma. These molecular 
      features can be used to distinguish MA from its mimics. BRAF V600E IHC using the 
      mutation-specific VE1 monoclonal antibody provides an effective method in BRAF 
      V600E mutations detection of renal tumors. p16 is overexpressed in MA, and the 
      finding suggests that the low proliferative rate of the tumor might be attributed 
      to BRAF V600E-induced senescence mediated by p16.
FAU - Wang, X
AU  - Wang X
AD  - Department of Pathology, Medicine School of Nanjing University/Nanjing Jinling 
      Hospital, Nanjing 210002, China.
FAU - Shi, S S
AU  - Shi SS
FAU - Yang, W R
AU  - Yang WR
FAU - Ye, S B
AU  - Ye SB
FAU - Li, R
AU  - Li R
FAU - Ma, H H
AU  - Ma HH
FAU - Zhang, R S
AU  - Zhang RS
FAU - Lu, Z F
AU  - Lu ZF
FAU - Zhou, X J
AU  - Zhou XJ
FAU - Rao, Q
AU  - Rao Q
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Bing Li Xue Za Zhi
JT  - Zhonghua bing li xue za zhi = Chinese journal of pathology
JID - 0005331
RN  - 0 (Antibodies, Monoclonal)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p16)
RN  - EC 2.7.11.1 (BRAF protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
SB  - IM
MH  - Adenoma/*genetics
MH  - Antibodies, Monoclonal
MH  - Carcinoma, Renal Cell/*genetics
MH  - Chromosomes, Human, Pair 17
MH  - Chromosomes, Human, Pair 7
MH  - Cyclin-Dependent Kinase Inhibitor p16/analysis
MH  - DNA Mutational Analysis
MH  - Diagnosis, Differential
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Kidney Neoplasms/*genetics
MH  - *Mutation
MH  - Mutation, Missense
MH  - Proto-Oncogene Proteins B-raf/analysis/*genetics
MH  - *Trisomy
MH  - Wilms Tumor/*genetics
EDAT- 2017/01/11 06:00
MHDA- 2017/07/20 06:00
CRDT- 2017/01/11 06:00
PHST- 2017/01/11 06:00 [entrez]
PHST- 2017/01/11 06:00 [pubmed]
PHST- 2017/07/20 06:00 [medline]
AID - 10.3760/cma.j.issn.0529-5807.2017.01.009 [doi]
PST - ppublish
SO  - Zhonghua Bing Li Xue Za Zhi. 2017 Jan 8;46(1):38-42. doi: 
      10.3760/cma.j.issn.0529-5807.2017.01.009.