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
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
Context:
Blue nevi are a subset of melanocytic proliferations containing cells reminiscent of the embryonal neural crest-derived dendritic melanocytic precursors. They are common specimens in a general pathology practice, but some of their rare variants may pose diagnostic difficulty. Recent molecular studies provide new insights into genetics of blue nevi.
Objective:
To critically review clinical and histologic features of blue nevi with emphasis on diagnostic problems and rare variants, as well as to provide an update on the pathogenesis of blue nevi.
Data Sources:
Published peer-reviewed literature and personal experience of the authors.
Conclusions:
Challenging areas in diagnosis of blue nevi include recognition of amelanotic, desmoplastic, atypical, and malignant variants of blue nevus. Recent data show that mutations in genes responsible for common nevi or melanomas such as BRAF , NRAS , or c- kit are rare in blue nevi. Benign and malignant blue nevi harbor frequent mutations in the Gαq class of G-protein α subunits, Gnaq and Gna11 proteins.
Related Concept Videos
Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Changes in Skin Color: Clinical Perspectives
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Veins of Head and Neck
On the other hand, the vertebral veins, unlike their arterial counterparts, are not primarily responsible for brain drainage. Instead, they drain the cervical vertebrae, spinal cord, and some small...
Nephrotic Syndrome I : Introduction
Nephrotic Syndrome II : Assessment and Medical Management
