Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma

F C Pozzobon1, J A Puig-Butillé, T González-Alvarez

  • 1Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain; National University of Colombia, Bogotá, Colombia.

Abstract

Insights

BRAF mutations in melanoma correlate with specific clinical and dermoscopic features, including trunk location and dermoscopic peppering. These findings may reflect underlying immune responses in BRAF-mutated melanomas.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • BRAF mutations are key drivers in melanoma, leading to targeted therapies.
  • Few clinical or histological features are reliably linked to BRAF mutational status.

Purpose of the Study:

  • To investigate clinical, histopathological, and dermoscopic characteristics of primary melanomas based on BRAF or NRAS mutational status.

Main Methods:

  • Observational retrospective study analyzing dermoscopy images of melanoma patients.
  • Somatic mutations in BRAF and NRAS were assessed.

Main Results:

  • BRAF-mutated melanomas were more common on the trunk (64%) and showed histological ulceration (OR 3.141, P=0.002).
  • Dermoscopic peppering was associated with MAPK mutations (BRAF/NRAS) (OR 1.68, P=0.015).
  • BRAF and NRAS mutations were mutually exclusive (39% BRAF, 6% NRAS).

Conclusions:

  • BRAF/NRAS status correlates with dermoscopic 'peppering,' indicating regression and dermal melanophages.
  • This suggests a potential morphological consequence of immune behavior in BRAF-mutated melanomas.

Related Concept Videos

Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
5.2K
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
5.7K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.0K
MAPK Signaling Cascades01:07

MAPK Signaling Cascades

Mitogen-activated protein kinase, or MAPK pathway, activates three sequential kinases to regulate cellular responses such as proliferation, differentiation, survival, and apoptosis. The canonical MAPK pathway starts with a mitogen or growth factor binding to an RTK. The activated RTKs stimulate Ras, which recruits Raf or MAP3 Kinase (MAPKKK), the first kinase of the MAPK signaling cascade. Raf further phosphorylates and activates MEK or MAP2 Kinases (MAPKK), which in turn phosphorylates MAP...
7.3K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
3.7K