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Related Experiment Video

Updated: Jun 4, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

Blue nevi and variants: an update.

Artur Zembowicz¹, Pushkar A Phadke

¹Department of Pathology, Lahey Clinic, Burlington, Massachusetts, USA. dr.z@DermatopathologyConsultations.com

Archives of Pathology & Laboratory Medicine

|March 4, 2011

Summary

Blue nevi, melanocytic proliferations, can be challenging to diagnose, especially rare variants. Genetic analysis reveals frequent mutations in Gnaq and Gna11 proteins, distinct from common nevi or melanomas.

Area of Science:

Dermatopathology
Melanocytic Neoplasms
Molecular Genetics

Background:

Blue nevi are melanocytic proliferations with features resembling embryonal neural crest-derived melanocytes.
While common in pathology, rare variants present diagnostic challenges.
Recent molecular studies offer new insights into blue nevus genetics.

Purpose of the Study:

Critically review clinical and histologic features of blue nevi.
Emphasize diagnostic challenges and rare variants.
Update on the pathogenesis of blue nevi.

Main Methods:

Review of published peer-reviewed literature.
Incorporation of authors' personal experience.

Main Results:

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Related Experiment Videos

Last Updated: Jun 4, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Diagnostic difficulties include amelanotic, desmoplastic, atypical, and malignant blue nevi.
Mutations in BRAF, NRAS, or c-kit are infrequent in blue nevi.
Frequent mutations in Gnaq and Gna11 (Gαq class of G-protein α subunits) are identified in benign and malignant blue nevi.

Conclusions:

Accurate diagnosis of blue nevi requires recognizing challenging variants.
Genetic landscape of blue nevi differs from common nevi and melanomas.
Gnaq and Gna11 mutations are key genetic drivers in blue nevi.