PMID- 32658344
OWN - NLM
STAT- Publisher
LR  - 20240227
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
DP  - 2020 Jul 13
TI  - Detection of tetraploidization in chromophobe renal cell carcinoma: Insights and 
      pitfalls.
LID - 10.1002/gcc.22886 [doi]
AB  - Chromosomal losses resulting in a marked hypodiploidy are a specificity of 
      chromophobe renal cell carcinoma (ChRCC), the third most frequent type of kidney 
      cancer. Its detection is useful in challenging cases. However some ChRCC, 
      especially the eosinophilic variant, do not exhibit hypodiploidy and deserve to 
      be better explored. Using comparative genomic hybridization (array-CGH) we 
      observed chromosomal gains in five cases of nonmetastatic ChRCC. Our objective 
      was to determine whether these apparent chromosomal gains were instead losses 
      within a near-polyploid genome. We performed a retrospective and prospective 
      molecular study of 26 cases of ChRCC retrieved among 643 renal tumors 
      (2012-2019). All tumors were analyzed using array-CGH (Agilent) and array-CGH 
      (Affymetrix) coupled to single nucleotide polymorphism analysis (array-SNP). In 
      silico manual centralization of the fluorescence ratio, fluorescence in situ 
      hybridization (FISH) and next generation sequencing were made in the five cases 
      suspected of polyploidy. Tetraploidization was observed in 19% of our series of 
      ChRCC. None of the methods used individually could identify both chromosomal 
      losses and tetraploidy. Only the combination of manual recentring of array-CGH 
      and FISH provided relevant results. B-allele frequency results indicated that 
      tetraploidization occurred secondarily to chromosomal losses in four cases while 
      it preceded losses in one case. Tetraploidization is a frequent but 
      underestimated phenomenon in ChRCC that may be overlooked using the individual 
      standard genomic methods. Its potential clinical consequences are not identified 
      yet. Whether the mechanisms that induce chromosomal losses in ChRCC are the same 
      that generate tetraploidization is not known.
CI  - (c) 2020 Wiley Periodicals LLC.
FAU - Di Mauro, Ilaria
AU  - Di Mauro I
AD  - Laboratory of Solid Tumor Genetics, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
FAU - Ambrosetti, Damien
AU  - Ambrosetti D
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
AD  - Central Laboratory of Pathology, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
FAU - Vignot, Louis
AU  - Vignot L
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
AD  - Department of Urology, University Hospital of Nice-Cote d'Azur University, Nice, 
      France.
FAU - Roussel, Jean-Francois
AU  - Roussel JF
AD  - Department of Pathology, Princess Grace Hospital, Monaco, Monaco.
FAU - Dadone-Montaudie, Berengere
AU  - Dadone-Montaudie B
AUID- ORCID: 0000-0002-0339-4602
AD  - Laboratory of Solid Tumor Genetics, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
AD  - Central Laboratory of Pathology, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
FAU - Peyron, Annie-Claude
AU  - Peyron AC
AD  - Laboratory of Solid Tumor Genetics, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
FAU - Quintens, Herve
AU  - Quintens H
AD  - Department of Urology, Princess Grace Hospital, Monaco, Monaco.
FAU - Durand, Matthieu
AU  - Durand M
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
AD  - Department of Urology, University Hospital of Nice-Cote d'Azur University, Nice, 
      France.
FAU - Amiel, Jean
AU  - Amiel J
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
AD  - Department of Urology, University Hospital of Nice-Cote d'Azur University, Nice, 
      France.
FAU - Pedeutour, Florence
AU  - Pedeutour F
AUID- ORCID: 0000-0002-9072-5472
AD  - Laboratory of Solid Tumor Genetics, University Hospital of Nice-Cote d'Azur 
      University, Nice, France.
AD  - Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of 
      Nice (IRCAN), Nice, France.
LA  - eng
GR  - Prime d'interessement a la recherche/
GR  - Direction de la Recherche et de l'Innovation-Nice University Hospital/
PT  - Journal Article
DEP - 20200713
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
OTO - NOTNLM
OT  - Chromophobe renal cell carcinoma
OT  - FISH
OT  - SNP-array
OT  - tetraploidy
EDAT- 2020/07/14 06:00
MHDA- 2020/07/14 06:00
CRDT- 2020/07/14 06:00
PHST- 2020/04/30 00:00 [received]
PHST- 2020/07/10 00:00 [revised]
PHST- 2020/07/10 00:00 [accepted]
PHST- 2020/07/14 06:00 [pubmed]
PHST- 2020/07/14 06:00 [medline]
PHST- 2020/07/14 06:00 [entrez]
AID - 10.1002/gcc.22886 [doi]
PST - aheadofprint
SO  - Genes Chromosomes Cancer. 2020 Jul 13. doi: 10.1002/gcc.22886.