PMID- 22588064
OWN - NLM
STAT- MEDLINE
DCOM- 20120710
LR  - 20130107
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 36
IP  - 6
DP  - 2012 Jun
TI  - A highly specific and discriminatory FISH assay for distinguishing between benign 
      and malignant melanocytic neoplasms.
PG  - 808-17
LID - 10.1097/PAS.0b013e31824b1efd [doi]
AB  - The diagnosis of certain melanocytic proliferations remains one of the most 
      challenging areas in pathology. In recent times, fluorescence in situ 
      hybridization (FISH) has emerged as a promising diagnostic aid to conventional 
      microscopy. We previously showed that a 4-probe FISH assay targeting 6p25 
      (RREB1), 6q23 (MYB), Cep6 (centromere 6), and 11q13 (CCND1) could discriminate 
      between histologically unequivocal melanomas and benign nevi with a sensitivity 
      of 86.7% and specificity of 95.4%. However, the sensitivity of the assay is 
      approximately 70% in melanomas with spitzoid morphology. Furthermore, 
      differentiating true gains from tetraploidy may cause difficulties in 
      interpretation by inexperienced examiners. Here we refine the current probe set 
      to better target spitzoid melanomas and more easily distinguish cells with 
      imbalanced copy number aberrations from tetraploid cells. Using FISH data from 3 
      training sets of 322 tumors, including 152 melanomas and 170 nevi, we identified 
      9p21, 6p25, 11q13, and 8q24 as a probe set with improved discriminatory power in 
      differentiating melanomas from nevi. In a validation set of 51 melanomas and 51 
      nevi this probe set had a sensitivity of 94% and specificity of 98%, compared 
      with the original probe set that had a sensitivity of 75% and specificity of 96% 
      in the same validation cohort. We propose that by incorporating 9p21 into the 
      4-probe FISH assay, with a new diagnostic algorithm, this new probe set would 
      have improved discriminatory power in melanocytic neoplasms and improved 
      sensitivity for detecting spitzoid melanomas, as demonstrated by our previous 
      studies.
FAU - Gerami, Pedram
AU  - Gerami P
AD  - Department of Dermatologyand the Robert H. Lurie Cancer Center, Northwestern 
      University, Chicago, IL 60611, USA. Pedram.Gerami@nmff.org
FAU - Li, Gu
AU  - Li G
FAU - Pouryazdanparast, Pedram
AU  - Pouryazdanparast P
FAU - Blondin, Beth
AU  - Blondin B
FAU - Beilfuss, Beth
AU  - Beilfuss B
FAU - Slenk, Carl
AU  - Slenk C
FAU - Du, Jing
AU  - Du J
FAU - Guitart, Joan
AU  - Guitart J
FAU - Jewell, Susan
AU  - Jewell S
FAU - Pestova, Katerina
AU  - Pestova K
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (DNA, Neoplasm)
SB  - IM
CIN - Expert Rev Mol Diagn. 2012 Sep;12(7):683-5. PMID: 23153236
MH  - Algorithms
MH  - Chromosomes, Human, Pair 9/genetics
MH  - DNA, Neoplasm/genetics
MH  - Diagnosis, Differential
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Melanoma/*diagnosis/genetics
MH  - Nevus/*diagnosis/genetics
MH  - Predictive Value of Tests
MH  - ROC Curve
MH  - Sensitivity and Specificity
MH  - Skin Neoplasms/*diagnosis/genetics
EDAT- 2012/05/17 06:00
MHDA- 2012/07/11 06:00
CRDT- 2012/05/17 06:00
PHST- 2012/05/17 06:00 [entrez]
PHST- 2012/05/17 06:00 [pubmed]
PHST- 2012/07/11 06:00 [medline]
AID - 00000478-201206000-00003 [pii]
AID - 10.1097/PAS.0b013e31824b1efd [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2012 Jun;36(6):808-17. doi: 10.1097/PAS.0b013e31824b1efd.