Genomic Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases

Maria C. Isales, Alexandra M. Haugh, Jeffrey Bubley, Anna E. Verzì, Bin Zhang, Emily Kudalkar, Christina Y. Lee, Pedram Yazdan, Joan Guitart, Pedram Gerami*

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Blitz nevi/tumors are a distinct subset of melanocytic neoplasia which show mixed morphologic features of Spitz and blue nevus. Genomically, most blue nevi have GNAQ or GNA11 mutations while most Spitzoid neoplasms have either an HRAS mutation or translocations involving MET, ROS, BRAF, ALK1, NTRK1, and RET. The criteria used for the assessment of malignancy in blue and Spitzoid lesions are different, and these lesions have different prognostic markers. In this study, we assess the clinical, morphological, and genomic changes in 18 cases of Blitz nevi/tumors to better characterize this subset of neoplasms and determine their optimal genomic classification. Most lesions occurred on the extremities followed by the head and neck region typical of blue nevi. Histology showed most cases having a prominent plexiform growth pattern with cells aggregating around the adnexal structures and neurovascular bundles also typical of blue nevi. Using next generation sequencing, we detected the presence of somatic mutations in GNAQ or GNA11 in 4 of 7 cases (57%) of Blitz nevi with sufficient DNA available for sequencing. Normal skin samples in these 4 cases were sequenced to confirm that the GNAQ or GNA11 mutations were somatic mutations. All 4 cases were negative for immunohistochemical assessment for wild-type BRAF, RET, ALK, and NTRK1 and mutational analysis of HRAS was also negative in all cases. Hence, our study suggests that Blitz nevi/tumors are a distinct subset which genomically are best classified as a subset of blue nevi.

Original languageEnglish (US)
Pages (from-to)118-124
Number of pages7
JournalAmerican Journal of Dermatopathology
Volume40
Issue number2
DOIs
StatePublished - Feb 1 2018

Keywords

  • Blitz nevus
  • GNA11
  • GNAQ
  • Spitz nevus
  • blue nevus
  • epithelioid blue nevus
  • sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

Fingerprint Dive into the research topics of 'Genomic Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases'. Together they form a unique fingerprint.

  • Cite this