Literature DB >> 29210482

Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus.

Caitlin Porubsky1, Jamie K Teer2,3, Yonghong Zhang2, Maria Deschaine3, Vernon K Sondak4, Jane L Messina3,4.   

Abstract

Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. We performed genetic analysis to further characterize the mutational profile of this rare entity.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  HRAS; Spitz nevus; congenital nevus; genomics; nevus spilus

Mesh：

Substances：

Year:  2017        PMID： 29210482      PMCID： PMC5768454          DOI： 10.1111/cup.13082

Source DB:  PubMed          Journal:  J Cutan Pathol        ISSN： 0303-6987            Impact factor:   1.587


  16 in total

1.  Naevus spilus-type congenital melanocytic naevus associated with a novel NRAS codon 61 mutation.

Authors:  S Krengel; D S Widmer; K Kerl; M P Levesque; C Schiestl; L Weibel
Journal:  Br J Dermatol       Date:  2015-11-21       Impact factor: 9.302

Review 2.  Speckled lentiginous naevus: which of the two disorders do you mean?

Authors:  R Happle
Journal:  Clin Exp Dermatol       Date:  2008-11-24       Impact factor: 3.470

3.  Activating HRAS mutation in nevus spilus.

Authors:  Kavita Y Sarin; Jennifer M McNiff; Shirley Kwok; Jinah Kim; Paul A Khavari
Journal:  J Invest Dermatol       Date:  2014-01-03       Impact factor: 8.551

4.  Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.

Authors:  Kavita Y Sarin; Bryan K Sun; Charles D Bangs; Athena Cherry; Susan M Swetter; Jinah Kim; Paul A Khavari
Journal:  JAMA Dermatol       Date:  2013-09       Impact factor: 10.282

5.  Absence of BRAF and HRAS mutations in eruptive Spitz naevi.

Authors:  S Gantner; T Wiesner; L Cerroni; I Lurkin; E C Zwarthoff; M Landthaler; C Hafner
Journal:  Br J Dermatol       Date:  2011-03-21       Impact factor: 9.302

Review 6.  Genomic aberrations in spitzoid melanocytic tumours and their implications for diagnosis, prognosis and therapy.

Authors:  Thomas Wiesner; Heinz Kutzner; Lorenzo Cerroni; Martin C Mihm; Klaus J Busam; Rajmohan Murali
Journal:  Pathology       Date:  2016-01-18       Impact factor: 5.306

7.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

8.  Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies.

Authors:  Veronica A Kinsler; Sven Krengel; Jean-Baptiste Riviere; Regula Waelchli; Carolina Chapusot; Lara Al-Olabi; Laurence Faivre; Holger A Haenssle; Lisa Weibel; Géraldine Jeudy; Pierre Vabres
Journal:  J Invest Dermatol       Date:  2014-04-21       Impact factor: 8.551

9.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

10.  Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

Authors:  Veronica A Kinsler; Anna C Thomas; Miho Ishida; Neil W Bulstrode; Sam Loughlin; Sandra Hing; Jane Chalker; Kathryn McKenzie; Sayeda Abu-Amero; Olga Slater; Estelle Chanudet; Rodger Palmer; Deborah Morrogh; Philip Stanier; Eugene Healy; Neil J Sebire; Gudrun E Moore
Journal:  J Invest Dermatol       Date:  2013-02-07       Impact factor: 8.551
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  1 in total

Review 1.  The Morpho-Molecular Landscape of Spitz Neoplasms.

Authors:  Carlo Alberto Dal Pozzo; Rocco Cappellesso
Journal:  Int J Mol Sci       Date:  2022-04-11       Impact factor: 6.208
  1 in total

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