PMID- 31437522
OWN - NLM
STAT- MEDLINE
DCOM- 20200610
LR  - 20200610
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 92
DP  - 2019 Oct
TI  - Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in 
      situ hybridization.
PG  - 81-90
LID - S0046-8177(19)30138-8 [pii]
LID - 10.1016/j.humpath.2019.08.005 [doi]
AB  - Renal cell carcinomas (RCC) are divided in several subtypes, characterized by 
      morphological and histological features, protein expression patterns and genetics 
      criteria. The main subtypes include Clear cell renal cell carcinoma (CCRCC), 
      Papillary RCC (PRCC), Chromophobe RCC (ChRCC), oncocytoma, TFE3 and TFEB 
      Translocation renal cell carcinoma (TRCC). In most cases, RCC can be easily 
      classified according to histological criteria and immunohistochemistry. 
      Nevertheless, the subtyping process can be more complex in some cases: 
      differential diagnosis (CCRCC or TFE3 TRCC, PRCC or TFE3 TRCC, oncocytic tumors 
      corresponding to ChRCC or oncocytoma), molecular confirmation (TFEB TRCC) and 
      unclassified RCC. Complementary analyses are required such as fluorescence in 
      situ hybridization (FISH) for the detection of chromosomal abnormalities 
      associated to each subtype. In this aim, this study assessed the performance of 
      FISH analysis in the histological classification of 359 RCC exhibiting unusual 
      histological characteristics and/or occurring in young people. FISH probes were 
      selected according to the histological features of each tumor. FISH analysis 
      contributed to the histological classification in 73% of the RCC (261/359). 
      Conversely, FISH did not contribute to the diagnosis in 19% of the cases (69/359) 
      and a hybridization failure was observed for the remaining tumors (8%; 29/359). 
      Considering the different RCC subtypes, FISH analysis was highly efficient to 
      confirm the histological diagnosis of CCRCC, PRCC, and TFE3 TRCC and to identify 
      abnormalities of the TFEB gene. However, this strategy showed some limitations 
      for the diagnosis of oncocytic tumors and unclassified RCC, suggesting that 
      additional molecular assays should be evaluated in these cases.
CI  - Copyright (c) 2019 Elsevier Inc. All rights reserved.
FAU - Beaumont, Marion
AU  - Beaumont M
AD  - Service de Cytogenetique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, 
      France.
FAU - Dugay, Frederic
AU  - Dugay F
AD  - Service de Cytogenetique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, 
      France; Universite de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de 
      Recherche en sante, environnement et travail) - UMR_S1085, 35000 Rennes, France.
FAU - Kammerer-Jacquet, Solene-Florence
AU  - Kammerer-Jacquet SF
AD  - Universite de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de Recherche en 
      sante, environnement et travail) - UMR_S1085, 35000 Rennes, France; Service 
      d'Anatomie et Cytologie Pathologiques, CHU de Rennes, 35000 Rennes, France.
FAU - Jaillard, Sylvie
AU  - Jaillard S
AD  - Service de Cytogenetique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, 
      France; Universite de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de 
      Recherche en sante, environnement et travail) - UMR_S1085, 35000 Rennes, France.
FAU - Cabillic, Florian
AU  - Cabillic F
AD  - Service de Cytogenetique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, 
      France.
FAU - Mathieu, Romain
AU  - Mathieu R
AD  - Service d'Urologie, CHU Rennes, 35000 Rennes, France.
FAU - Verhoest, Gregory
AU  - Verhoest G
AD  - Service d'Urologie, CHU Rennes, 35000 Rennes, France.
FAU - Bensalah, Karim
AU  - Bensalah K
AD  - Service d'Urologie, CHU Rennes, 35000 Rennes, France.
FAU - Rioux-Leclercq, Nathalie
AU  - Rioux-Leclercq N
AD  - Universite de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de Recherche en 
      sante, environnement et travail) - UMR_S1085, 35000 Rennes, France; Service 
      d'Anatomie et Cytologie Pathologiques, CHU de Rennes, 35000 Rennes, France.
FAU - Belaud-Rotureau, Marc-Antoine
AU  - Belaud-Rotureau MA
AD  - Service de Cytogenetique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, 
      France; Universite de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de 
      Recherche en sante, environnement et travail) - UMR_S1085, 35000 Rennes, France. 
      Electronic address: marc-antoine.belaud-rotureau@univ-rennes1.fr.
CN  - CARARE French network (Rare Renal Carcinoma in Adults) of the INCa (National 
      Institute of Cancer, France)
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190820
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Carcinoma, Renal Cell/*diagnosis/genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Kidney/*pathology
MH  - Kidney Neoplasms/*diagnosis/genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Pathology, Molecular
MH  - Translocation, Genetic
MH  - Young Adult
OTO - NOTNLM
OT  - Chromosomal abnormalities
OT  - Cytogenetics
OT  - Fluorescence in situ hybridization
OT  - Histological classification
OT  - Renal epithelial neoplasms
EDAT- 2019/08/23 06:00
MHDA- 2020/06/11 06:00
CRDT- 2019/08/23 06:00
PHST- 2019/06/19 00:00 [received]
PHST- 2019/08/08 00:00 [revised]
PHST- 2019/08/09 00:00 [accepted]
PHST- 2019/08/23 06:00 [pubmed]
PHST- 2020/06/11 06:00 [medline]
PHST- 2019/08/23 06:00 [entrez]
AID - S0046-8177(19)30138-8 [pii]
AID - 10.1016/j.humpath.2019.08.005 [doi]
PST - ppublish
SO  - Hum Pathol. 2019 Oct;92:81-90. doi: 10.1016/j.humpath.2019.08.005. Epub 2019 Aug 
      20.