INSIGHTS THROUGH TRANSLATIONAL SCIENCE

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

Commentary or Editorial available

Plain Language Summary available

Article first published online: 05 Dec 2018
DOI: 10.1111/bjd.17337

Comment on this article

Summary

Basal cell naevus syndrome ( BCNS ) is associated with germline mutations in the PTCH 1 gene. Postzygotic mosaicism can also cause BCNS . Here we describe two patients, one with multiple basal cell carcinomas ( BCC s) and one with clinical BCNS , who had no PTCH 1 mutation in DNA extracted from blood. In both patients, we performed genetic analysis on different BCC s, revealing the presence of a shared PTCH 1 mutation in all tumours. Our findings show that in patients with symptoms of BCNS and initial absence of a PTCH 1 mutation in blood, genetic profiling of BCC s can detect postzygotic mosaicism.

What’s already known about this topic?

Basal cell naevus syndrome (BCNS) is associated with germline mutations in the PTCH1 gene, but it can also be caused by low‐grade postzygotic mosaicism in PTCH1.

What does this study add?

In patients suspected of having BCNS or patients with multiple basal cell carcinomas (BCCs) with a special distribution on the body and no mutation detected in blood, it is worthwhile to search for a shared PTCH1 mutation in their BCCs as this can detect postzygotic mosaicism. This information is important to ensure proper surveillance programmes, choose the right therapy and provide adequate genetic counselling.

Read moreRead more (PDF)

Share this article

0

Favourite

Comments

If you want to submit a letter for publication rather than comment on an article please submit through Scholar One: https://mc.manuscriptcentral.com/bjd

There are no comments for this article yet.

Recent Tweets

@BrJDermatol

20 Oct 2019

A randomized, double-blind placebo-controlled study found that ASN002, an oral, dual Janus kinase and spleen tyrosine kinase inhibitor, had promising efficacy and safety profile for patients with moderate-to-severe atopic dermatitis. https://t.co/9CCBbbM8HV #AD #clinicaltrial https://t.co/x1ueJO8Cny

@BrJDermatol

19 Oct 2019

52F w/ numerous nonpruritic erythematous to brownish annular plaques that gradually expanded centrifugally & coalesced into polycyclic & reticulate appearance w/ partial central atrophy & elevated borders on sun‐exposed areas. What's your Dx? https://t.co/86xi2tenD5 #dermtwitter https://t.co/ZW1DFlJhpG

@BrJDermatol

19 Oct 2019

Skin fibrosis (scarring) remains challenging to assess. This study looks at the utility of using high frequency ultrasound and optical coherence tomography to provide a numerical score of skin fibrosis during the course of wound healing. https://t.co/c5UyZrZrjk #ultrasound #OCT https://t.co/pmBQhGNpcj

@BrJDermatol

18 Oct 2019

This population-based study of over 160,000 participants found that seborrheic dermatitis is a common disease (3.2% of study population) that is more prevalent in men and older individuals. https://t.co/lr5QwCd5J8 #seborrhea #dermatology #epidemiology https://t.co/6M49ovPUed

@BrJDermatol

18 Oct 2019

RT Skin Science Foundation @SkinScienceFDN: In @BrJDermatol: Measuring #clinician#machine agreement in differential #diagnoses for #dermatology: https://t.co/7P8JZ8bDhc

@BrJDermatol

18 Oct 2019

RT Dominique du Crest @ducrest: Management of psoriasis as a systemic disease: what is the evidence? https://t.co/Q8HsEMILgn via @BrJDermatol Biological treatment may prevent or reverse inflammatory damage associated with psoriasis comorbidities. #dermatology #dermatologia #PsoriasisAwareness

Close