Literature DB >> 25491471

[Molecular diagnostics of melanomas].

K G Griewank1.   

Abstract

BACKGROUND: Technical advances have led to an intricate understanding of genetic alterations occurring in melanomas. Methodological improvements have made it possible to carry out a detailed molecular analysis of formalin-fixed, paraffin-embedded tissue samples.
OBJECTIVES: The currently available molecular genetic assays are presented with their individual strengths and weaknesses as well as their future potential for molecular analysis.
METHODS: The available literature, assessments from different experts, as well as personal experiences with the different methods are presented and discussed.
RESULTS: The molecular genetic methods introduced in recent years can be helpful in making a distinction between benign and malignant tumors. Additionally, DNA sequencing approaches are essential for stratifying which patients with metastasized tumors will benefit from available targeted therapies.
CONCLUSION: Molecular genetic assays are already a key element in terms of diagnosing and treating malignant melanoma. Similar to other methods, genetic assays have their weaknesses and limits, however, some of these will most likely be overcome in the course of future methodological advances. The role of molecular diagnostics as a complementary approach to customary histopathological review by a pathologist is likely to increase in the future.

Entities:  

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Year:  2015        PMID: 25491471     DOI: 10.1007/s00292-014-2054-4

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  30 in total

1.  Frequent mutation of BAP1 in metastasizing uveal melanomas.

Authors:  J William Harbour; Michael D Onken; Elisha D O Roberson; Shenghui Duan; Li Cao; Lori A Worley; M Laurin Council; Katie A Matatall; Cynthia Helms; Anne M Bowcock
Journal:  Science       Date:  2010-11-04       Impact factor: 47.728

2.  Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization.

Authors:  B C Bastian; P E LeBoit; H Hamm; E B Bröcker; D Pinkel
Journal:  Cancer Res       Date:  1998-05-15       Impact factor: 12.701

3.  KIT as a therapeutic target in metastatic melanoma.

Authors:  Richard D Carvajal; Cristina R Antonescu; Jedd D Wolchok; Paul B Chapman; Ruth-Ann Roman; Jerrold Teitcher; Katherine S Panageas; Klaus J Busam; Bartosz Chmielowski; Jose Lutzky; Anna C Pavlick; Anne Fusco; Lauren Cane; Naoko Takebe; Swapna Vemula; Nancy Bouvier; Boris C Bastian; Gary K Schwartz
Journal:  JAMA       Date:  2011-06-08       Impact factor: 56.272

4.  Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

Authors:  Marcel Martin; Lars Maßhöfer; Petra Temming; Sven Rahmann; Claudia Metz; Norbert Bornfeld; Johannes van de Nes; Ludger Klein-Hitpass; Alan G Hinnebusch; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Journal:  Nat Genet       Date:  2013-06-23       Impact factor: 38.330

5.  Mutations in GNA11 in uveal melanoma.

Authors:  Catherine D Van Raamsdonk; Klaus G Griewank; Michelle B Crosby; Maria C Garrido; Swapna Vemula; Thomas Wiesner; Anna C Obenauf; Werner Wackernagel; Gary Green; Nancy Bouvier; M Mert Sozen; Gail Baimukanova; Ritu Roy; Adriana Heguy; Igor Dolgalev; Raya Khanin; Klaus Busam; Michael R Speicher; Joan O'Brien; Boris C Bastian
Journal:  N Engl J Med       Date:  2010-11-17       Impact factor: 91.245

6.  Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma.

Authors:  P Guldberg; P thor Straten; A Birck; V Ahrenkiel; A F Kirkin; J Zeuthen
Journal:  Cancer Res       Date:  1997-09-01       Impact factor: 12.701

7.  Widespread potential for growth-factor-driven resistance to anticancer kinase inhibitors.

Authors:  Timothy R Wilson; Jane Fridlyand; Yibing Yan; Elicia Penuel; Luciana Burton; Emily Chan; Jing Peng; Eva Lin; Yulei Wang; Jeff Sosman; Antoni Ribas; Jiang Li; John Moffat; Daniel P Sutherlin; Hartmut Koeppen; Mark Merchant; Richard Neve; Jeff Settleman
Journal:  Nature       Date:  2012-07-26       Impact factor: 49.962

Review 8.  Genetic alterations and personalized medicine in melanoma: progress and future prospects.

Authors:  Klaus G Griewank; Richard A Scolyer; John F Thompson; Keith T Flaherty; Dirk Schadendorf; Rajmohan Murali
Journal:  J Natl Cancer Inst       Date:  2014-02       Impact factor: 13.506

9.  Nivolumab plus ipilimumab in advanced melanoma.

Authors:  Jedd D Wolchok; Harriet Kluger; Margaret K Callahan; Michael A Postow; Naiyer A Rizvi; Alexander M Lesokhin; Neil H Segal; Charlotte E Ariyan; Ruth-Ann Gordon; Kathleen Reed; Matthew M Burke; Anne Caldwell; Stephanie A Kronenberg; Blessing U Agunwamba; Xiaoling Zhang; Israel Lowy; Hector David Inzunza; William Feely; Christine E Horak; Quan Hong; Alan J Korman; Jon M Wigginton; Ashok Gupta; Mario Sznol
Journal:  N Engl J Med       Date:  2013-06-02       Impact factor: 91.245

10.  Mutations of the BRAF gene in human cancer.

Authors:  Helen Davies; Graham R Bignell; Charles Cox; Philip Stephens; Sarah Edkins; Sheila Clegg; Jon Teague; Hayley Woffendin; Mathew J Garnett; William Bottomley; Neil Davis; Ed Dicks; Rebecca Ewing; Yvonne Floyd; Kristian Gray; Sarah Hall; Rachel Hawes; Jaime Hughes; Vivian Kosmidou; Andrew Menzies; Catherine Mould; Adrian Parker; Claire Stevens; Stephen Watt; Steven Hooper; Rebecca Wilson; Hiran Jayatilake; Barry A Gusterson; Colin Cooper; Janet Shipley; Darren Hargrave; Katherine Pritchard-Jones; Norman Maitland; Georgia Chenevix-Trench; Gregory J Riggins; Darell D Bigner; Giuseppe Palmieri; Antonio Cossu; Adrienne Flanagan; Andrew Nicholson; Judy W C Ho; Suet Y Leung; Siu T Yuen; Barbara L Weber; Hilliard F Seigler; Timothy L Darrow; Hugh Paterson; Richard Marais; Christopher J Marshall; Richard Wooster; Michael R Stratton; P Andrew Futreal
Journal:  Nature       Date:  2002-06-09       Impact factor: 49.962

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