PMID- 36325821
OWN - NLM
STAT- MEDLINE
DCOM- 20230123
LR  - 20231111
IS  - 1600-0560 (Electronic)
IS  - 0303-6987 (Linking)
VI  - 50
IP  - 2
DP  - 2023 Feb
TI  - A novel method to assess copy number variation in melanoma: Droplet digital PCR 
      for precise quantitation of the RREB1 gene in formalin-fixed, paraffin-embedded 
      melanocytic neoplasms, a proof-of-concept study.
PG  - 169-177
LID - 10.1111/cup.14352 [doi]
AB  - BACKGROUND: Melanocytic neoplasms can be challenging to diagnose. One 
      well-established diagnostic aid is the detection of copy number variation (CNV) 
      in a few key genetic loci using conventional methods such as fluorescence in situ 
      hybridization (FISH) and chromosomal microarray (CMA). Droplet digital polymerase 
      chain reaction (ddPCR) is a novel, cost-effective, rapid, and automated method to 
      detect CNV. METHODS: We perform the first investigation of ddPCR to assay 
      Ras-responsive element-binding protein-1 (RREB1), the most common CNV in melanoma 
      using formalin-fixed, paraffin-embedded (FFPE) melanocytic lesion samples; CMA 
      data are used as the gold standard. Archival samples from 2013 to 2021 were 
      analyzed, including 153 data points from 39 FFPE samples representing 34 
      patients. Benign, borderline, malignant, and metastatic melanocytic neoplasms 
      were examined. RESULTS: ddPCR showed a sensitivity and specificity of 93.8% and 
      95.7% using one reference gene, and 87.5% and 100% using a different reference 
      gene for RREB1 gain detection. CONCLUSIONS: Here we show that ddPCR can provide 
      inexpensive, rapid, and robust data on the commonest copy number alteration in 
      melanoma. Future development and validation could provide a useful ancillary tool 
      in the diagnosis of challenging melanocytic lesions.
CI  - (c) 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - O'Hern, Keegan
AU  - O'Hern K
AUID- ORCID: 0000-0003-1036-4601
AD  - Dartmouth Geisel School of Medicine, Hanover, New Hampshire, USA.
FAU - Barney, Rachael
AU  - Barney R
AD  - Clinical Genomics and Advanced Technology Laboratory, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
FAU - Chambers, Meagan
AU  - Chambers M
AD  - Dartmouth Geisel School of Medicine, Hanover, New Hampshire, USA.
FAU - Baker, Catherine
AU  - Baker C
AD  - Dartmouth Geisel School of Medicine, Hanover, New Hampshire, USA.
FAU - Stevanovic, Mirjana
AU  - Stevanovic M
AD  - Dartmouth Geisel School of Medicine, Hanover, New Hampshire, USA.
FAU - Tsongalis, Gregory J
AU  - Tsongalis GJ
AD  - Clinical Genomics and Advanced Technology Laboratory, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
FAU - Hughes, Edward
AU  - Hughes E
AD  - Clinical Genomics and Advanced Technology Laboratory, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
FAU - Sriharan, Aravindhan
AU  - Sriharan A
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center, Lebanon, New Hampshire, USA.
LA  - eng
GR  - P30 CA023108/CA/NCI NIH HHS/United States
GR  - 5P30CA023108-37/CA/NCI NIH HHS/United States
PT  - Journal Article
DEP - 20221122
PL  - United States
TA  - J Cutan Pathol
JT  - Journal of cutaneous pathology
JID - 0425124
RN  - 1HG84L3525 (Formaldehyde)
RN  - 0 (RREB1 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Humans
MH  - *DNA Copy Number Variations
MH  - Paraffin Embedding
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Melanoma/diagnosis/genetics
MH  - Polymerase Chain Reaction/methods
MH  - Formaldehyde
MH  - DNA-Binding Proteins/genetics
MH  - Transcription Factors/genetics
OTO - NOTNLM
OT  - RREB1
OT  - droplet digital PCR
OT  - melanocytic nevus
OT  - melanoma
EDAT- 2022/11/04 06:00
MHDA- 2023/01/24 06:00
CRDT- 2022/11/03 04:33
PHST- 2022/10/11 00:00 [revised]
PHST- 2022/08/15 00:00 [received]
PHST- 2022/10/31 00:00 [accepted]
PHST- 2022/11/04 06:00 [pubmed]
PHST- 2023/01/24 06:00 [medline]
PHST- 2022/11/03 04:33 [entrez]
AID - 10.1111/cup.14352 [doi]
PST - ppublish
SO  - J Cutan Pathol. 2023 Feb;50(2):169-177. doi: 10.1111/cup.14352. Epub 2022 Nov 22.