PMID- 24342290
OWN - NLM
STAT- MEDLINE
DCOM- 20140320
LR  - 20151119
IS  - 0740-2570 (Print)
IS  - 0740-2570 (Linking)
VI  - 30
IP  - 4
DP  - 2013 Nov
TI  - Molecular pathology of melanocytic tumors.
PG  - 362-74
LID - S0740-2570(13)00046-4 [pii]
LID - 10.1053/j.semdp.2013.11.002 [doi]
AB  - Genetic and genomic analyses of melanocytic tumors have yielded new opportunities 
      for improvements in diagnostic accuracy for the distinction of nevus from 
      melanoma and better selection of patients affected by melanoma for targeted 
      treatment. Since chromosomal copy number changes are commonly found in malignant 
      melanoma, but rare in melanocytic nevi, cytogenetic assays have emerged as a 
      promising ancillary study for the workup of melanocytic tumors with ambiguous 
      light microscopic features. Comparative genomic hybridization (CGH) permits 
      assessment of the full set of chromosomes, but requires a significant amount of 
      lesional tissue, and may fail to detect aberrations in a minor subpopulation of 
      tumor cells. Fluorescence in situ hybridization (FISH) is the cytogenetic assay 
      of choice for limited amounts of tissue. FISH targets only specific chromosomes, 
      with inherent limitations in test sensitivity and specificity. FISH analysis is 
      also heavily dependent on individual experience. Molecular studies have 
      identified distinct sets of mutations in melanoma and/or nevi. These mutations 
      have become clinically relevant for targeted therapy of patients with advanced 
      disease, especially for the treatment of patients with metastatic melanoma 
      carrying the BRAF(V600) or KIT mutations. However, mutation analysis can on 
      occasion also be used for diagnostic purposes.
CI  - (c) 2013 Published by Elsevier Inc.
FAU - Busam, Klaus J
AU  - Busam KJ
AD  - Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, 
      New York, New York 10065. Electronic address: busamk@mskcc.org.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20131112
PL  - United States
TA  - Semin Diagn Pathol
JT  - Seminars in diagnostic pathology
JID - 8502262
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Biomarkers, Tumor/*genetics
MH  - Cytogenetic Analysis
MH  - Humans
MH  - Melanoma/*genetics/*pathology
MH  - Molecular Biology
OTO - NOTNLM
OT  - Cytogenetics
OT  - FISH
OT  - Melanocytic nevus
OT  - Melanoma
OT  - Molecular dermatopathology
EDAT- 2013/12/18 06:00
MHDA- 2014/03/22 06:00
CRDT- 2013/12/18 06:00
PHST- 2013/12/18 06:00 [entrez]
PHST- 2013/12/18 06:00 [pubmed]
PHST- 2014/03/22 06:00 [medline]
AID - S0740-2570(13)00046-4 [pii]
AID - 10.1053/j.semdp.2013.11.002 [doi]
PST - ppublish
SO  - Semin Diagn Pathol. 2013 Nov;30(4):362-74. doi: 10.1053/j.semdp.2013.11.002. Epub 
      2013 Nov 12.