Dataset Information

Molecular profiling of basal cell carcinomas in young patients.

ABSTRACT:

Background

Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While variants in the sonic Hedgehog and cell cycle regulation pathways account for the majority of BCC cases in adults, the molecular etiology of BCC in young patients is unelucidated yet. This study aims to investigate the molecular profile of BCC in the young population.

Methods

28 tumors belonging to 25 Lebanese patients under the age of 40, presenting different stages of BCC and diagnosed at Hôtel Dieu de France-Saint Joseph University Medical Center were included in this study. A selected panel of 150 genes involved in cancer was analyzed by Next Generation Sequencing (NGS) in the 28 included tumors.

Results

Genetic variants detected in more than 5% of the reads, with a sequencing depth ≥ 50x, were selected. Two hundred and two genetic variants in 48 different genes were detected, with an overall average sequencing depth of 1069x. Among the 28 studied tumors, 18 (64.3%) show variations in the PTCH1 gene, 6 (21.4%) in TP53 and 3 (10.7%) in SMO.

Conclusions

This is the first study reporting NGS-based analysis of BCC in a cohort of young patients. Our results highlight the involvement of the hedgehog and cell cycle regulation pathways in the genesis of BCC in the general population. The inclusion of a larger cohort of young patients is needed to confirm our findings.

SUBMITTER: Abi Karam M

PROVIDER: S-EPMC8293576 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Publications

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam Marc M Kourie Hampig Raphael HR Jalkh Nadine N Mehawej Cybel C Kesrouani Carole C Haddad Fady Gh FG Feghaly Iman I Chouery Eliane E Tomb Roland R

BMC medical genomics 20210720 1

<h4>Background</h4>Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While variants in the sonic Hedgehog and cell cycle regulation pathways account for the majority of BCC cases in adults, the molecular etiology of BCC in young patients is unelucidated yet. This study aims to investigate the molecular profile of BCC in the young population.<h4>M ...[more]

PMID: 34284772

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Project description:ImportanceFew studies have examined watchful waiting (WW) in patients with basal cell carcinoma (BCC), although this approach might be suitable in patients who might not live long enough to benefit from treatment.ObjectiveTo evaluate reasons for WW and to document the natural course of BCC in patients who chose WW and reasons to initiate later treatment.Design, setting, and participantsAn observational cohort study was performed at a single institution between January 2018 and November 2020 studying patients with 1 or more untreated BCC for 3 months or longer.ExposuresWatchful waiting was chosen by patients and proxies regardless of this study.Main outcome and measuresThe reasons for WW and treatment were extracted from patient files and were categorized for analyses. Linear mixed models were used to estimate tumor growth and identify covariates associated with tumor growth.ResultsWatchful waiting was chosen for 280 BCCs in 89 patients (47 men [53%] and 42 women [47%]), with a median (interquartile range [IQR]) follow-up of 9 (4-15) months. The median (IQR) age of the included patients was 83 (73-88) years. Patient-related factors or preferences (ie, prioritizations of comorbidities, severe frailty, or limited life expectancy) were reasons to initiate WW in 74 (83%) patients, followed by tumor-related factors (n = 49; 55%). Treatment-related and circumstantial reasons were important for 35% and 46% of the patients, respectively. The minority of tumors increased in size (47%). Tumor growth was associated with BCC subtype (odds ratio, 3.35; 95% CI, 1.47-7.96; P = .005), but not with initial tumor size and location. The estimated tumor diameter increase was 4.46 mm (80% prediction interval, 1.42 to 7.46 mm) in 1 year for BCCs containing at least an infiltrative/micronodular component and 1.06 mm (80% prediction interval, -1.79 to 4.28 mm) for the remaining BCCs (only nodular/superficial component/clinical diagnosis). Most common reasons to initiate treatment were tumor burden or potential tumor burden, resolved reason(s) for WW, and reevaluation of patient-related factors.Conclusions and relevanceIn this cohort study of patients with BCC, WW was an appropriate approach in several patients, especially those with asymptomatic nodular or superficial BCCs and a limited life expectancy. Patients should be followed up regularly to determine whether a WW approach is still suitable and whether patients still prefer WW and to reconsider consequences of treatment and refraining from treatment.

Dataset Information

Molecular profiling of basal cell carcinomas in young patients.

Background

Methods

Results

Conclusions

Publications

Molecular profiling of basal cell carcinomas in young patients.

Similar Datasets

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