Journal ArticleDOI
Nevus versus melanoma: to FISH, or not to FISH.
Jie Song,Wolter J. Mooi,Vesna Petronic-Rosic,Christopher R. Shea,Thomas Stricker,Thomas Krausz +5 more
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TLDR
The historical development of FISH for melanoma diagnosis is introduced and its diagnostic value as well as its potential limitations at present are discussed.Abstract:
Fluorescence in-situ hybridization (FISH) has arisen as a novel ancillary test for the pathological diagnosis of melanoma. It is an outgrowth of studies using comparative genomic hybridization, a technique capable of surveying the entire genome for DNA copy number changes. An original report published in 2009 showed high sensitivity (87%) and specificity (95%) for diagnosing melanoma, using a combination of 4 FISH probes that target 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1), and chromosome 6 centromere. Since then, a number of studies have been published, supporting the high accuracy of FISH for diagnosing melanoma. In addition, various clinicopathological settings where FISH may be particularly useful are explored. FISH tests for melanoma are now commercially available. Meanwhile, questions have been raised by some about the true diagnostic value of FISH, particularly in melanocytic lesions with ambiguous histopathology. This review will briefly introduce the historical development of FISH for melanoma diagnosis and discuss its diagnostic value as well as its potential limitations at present.read more
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Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma
Loren E. Clarke,M. Bryan Warf,Darl D. Flake,Anne Renee Hartman,Steven R. Tahan,Christopher R. Shea,Pedram Gerami,Jane L. Messina,Scott R. Florell,Richard J. Wenstrup,Kristen Rushton,Kirstin M. Roundy,Colleen Rock,Benjamin B. Roa,Kathryn A. Kolquist,Alexander Gutin,Steven D. Billings,Sancy A. Leachman +17 more
TL;DR: The goal of this study was to identify a gene expression signature that reliably differentiated benign and malignant melanocytic lesions and evaluate its potential clinical applicability, and the development and clinical validation using multiple independent cohorts of melanocytics lesions representing a broad spectrum of histopathologic subtypes.
Journal ArticleDOI
Practical application of new technologies for melanoma diagnosis: Part I. Noninvasive approaches
TL;DR: The practical applications of emerging technologies for noninvasive melanoma diagnosis, including mobile (smartphone) applications, multispectral imaging (ie, MoleMate and MelaFind), and electrical impedance spectroscopy (Nevisense) are reviewed.
Journal ArticleDOI
Molecular beacon-based tricomponent probe for SNP analysis in folded nucleic acids
TL;DR: It was demonstrated that the DNA analytes folded in hairpin structures with stems containing 5, 6, 7, 8, 9, 11, or 13 base pairs can be detected in real time with the limit of detection lying in the nanomolar range.
Journal ArticleDOI
Practical application of new technologies for melanoma diagnosis: Part II. Molecular approaches.
TL;DR: The goal is to provide the clinician with an up to date understanding of these molecular approaches so that they can be applied to their management of challenging melanocytic lesions.
Journal ArticleDOI
Application of Fluorescence In Situ Hybridization (FISH) Technique for the Detection of Genetic Aberration in Medical Science.
Zubair Ahmed Ratan,Sojib Bin Zaman,Varshil Mehta,Mohammad Faisal Haidere,Nusrat Jahan Runa,Nasrin Akter +5 more
TL;DR: Fluorescence in situ hybridization is a macromolecule recognition technique, which is considered as a new advent in the field of cytology and applied to detect genetic abnormalities that include different characteristic gene fusions or the presence of an abnormal number of chromosomes in a cell or loss of a chromosomal region or a whole chromosome.
References
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Journal ArticleDOI
American society of clinical oncology/college of american pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer
Antonio C. Wolff,M. Elizabeth H. Hammond,Jared N. Schwartz,Karen L. Hagerty,D. Craig Allred,Richard J. Cote,Mitchell Dowsett,Patrick L. Fitzgibbons,Wedad Hanna,Amy S. Langer,Lisa M. McShane,Soonmyung Paik,Mark D. Pegram,Edith A. Perez,Michael F. Press,Anthony Rhodes,Catharine M. Sturgeon,Sheila E. Taube,Raymond R. Tubbs,Gail H. Vance,Marc J. van de Vijver,Thomas M. Wheeler,Daniel F. Hayes +22 more
TL;DR: A testing algorithm that relies on accurate, reproducible assay performance, including newly available types of brightfield ISH, is proposed and strongly recommends validation of laboratory assay or modifications, use of standardized operating procedures, and compliance with new testing criteria to be monitored.
Journal ArticleDOI
Distinct Sets of Genetic Alterations in Melanoma
John A. Curtin,Jane Fridlyand,Toshiro Kageshita,Hetal N. Patel,Klaus J. Busam,Heinz Kutzner,Kwang Hyun Cho,Setsuya Aiba,Eva B. Bröcker,Philip E. LeBoit,Daniel Pinkel,Boris C. Bastian +11 more
TL;DR: The genetic alterations identified in melanoma at different sites and with different levels of sun exposure indicate that there are distinct genetic pathways in the development of melanoma and implicate CDK4 and CCND1 as independent oncogenes in melanomas without mutations in BRAF or N-RAS.
Journal ArticleDOI
Recurring mutations found by sequencing an acute myeloid leukemia genome.
Elaine R. Mardis,Li Ding,David J. Dooling,David E. Larson,Michael D. McLellan,Ken Chen,Daniel C. Koboldt,Robert S. Fulton,Kim D. Delehaunty,Sean McGrath,Lucinda Fulton,Devin P. Locke,Vincent Magrini,Rachel Abbott,Tammi L. Vickery,Jerry S. Reed,Jody S. Robinson,Todd Wylie,Scott M. Smith,Lynn K. Carmichael,James M. Eldred,Chris Harris,Jason Walker,Joshua Peck,Feiyu Du,Adam F. Dukes,Gabriel E. Sanderson,Anthony M. Brummett,Eric M. Clark,Joshua F. McMichael,Rick Meyer,Jonathan K. Schindler,Craig Pohl,John W. Wallis,Xiaoqi Shi,Ling Lin,Heather Schmidt,Yuzhu Tang,Carrie A. Haipek,Madeline E. Wiechert,Jolynda V. Ivy,Joelle Kalicki,Glendoria Elliott,Rhonda E. Ries,Jacqueline E. Payton,Peter Westervelt,Michael H. Tomasson,Mark A. Watson,Jack Baty,Sharon Heath,William D. Shannon,Rakesh Nagarajan,Daniel C. Link,Matthew J. Walter,Timothy A. Graubert,John F. DiPersio,Richard K. Wilson,Timothy J. Ley +57 more
TL;DR: By comparing the sequences of tumor and skin genomes of a patient with AML-M1, recurring mutations that may be relevant for pathogenesis are identified.
Journal ArticleDOI
American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer.
Antonio C. Wolff,M. Elizabeth H. Hammond,Jared N. Schwartz,Karen L. Hagerty,D. Craig Alfred,Richard J. Cote,Mitchell Dowsett,Patrick L. Fitzgibbons,Wedad Hanna,Amy S. Langer,Lisa M. McShane,Soonmyung Paik,Mark D. Pegram,Edith A. Perez,Michael F. Press,Anthony Rhodes,Catharine M. Sturgeon,Sheila E. Taube,Raymond R. Tubbs,Gail H. Vance,Marc J. van de Vijver,Thomas M. Wheeler,Daniel F. Hayes +22 more
TL;DR: A testing algorithm that relies on accurate, reproducible assay performance, including newly available types of brightfield ISH, is proposed and strongly recommends validation of laboratory assay or modifications, use of standardized operating procedures, and compliance with new testing criteria are recommended.
Journal ArticleDOI
High frequency of BRAF mutations in nevi.
Pamela M. Pollock,Ursula Harper,Katherine S. Hansen,Laura M. Yudt,Mitchell S. Stark,Christiane M. Robbins,Tracy Moses,Galen Hostetter,Urs Wagner,John W. Kakareka,Ghadi Salem,Tom Pohida,Peter J. Heenan,Paul H. Duray,Olli Kallioniemi,Nicholas K. Hayward,Jeffrey M. Trent,Paul S. Meltzer +17 more
TL;DR: In this article, the authors evaluated the timing of mutations in BRAF during melanocytic neoplasia and found that mutations resulted in the V599E amino acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.