Nevoid Basal Cell Carcinomas in Gorlin Syndrome

Nevoid Basal Cell Carcinomas in Young People With Gorlin Syndrome

The overall aim of the project is to gain knowledge about the expected course of nevoid basal cell carcinomas and the usefulness of dermatoscopy in young individuals with Gorlin syndrome.

Clinical experience and some case-reports suggest that nevoid basal cell carcinomas have an indolent course with slow growth and that they can sometimes regress. However, no systematic research has previously been performed.

Increased knowledge about nevoid basal cell carcinomas and the use of dermatoscopy could be of great clinical value in the follow-up and treatment of individuals with nevoid basal cell carcinoma syndrome.

Study Overview

• Status: Enrolling by invitation
• Conditions: Basal Cell Carcinoma; Gorlin Syndrome
• Intervention / Treatment: Other: Active surveillance

• Study Type: Observational
• Enrollment (Estimated): 10

Contacts and Locations

Study Locations

• Norway
  • Oslo, Norway, 0424
    • Oslo University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Children aged six to seventeen years with Gorlin syndrome and nevoid basal cell carcinomas living in Norway.

Description

Inclusion Criteria:

• The individual has Gorlin syndrome (clinically and/or genetically diagnosed)
• The individual is minimum 6 years and maximum 17 years
• The individual has at least three skin lesions clinically compatible with nevoid basal cell carcinomas

Exclusion Criteria:

• The patient has a psychiatric disorder not compatible with completion of the study examinations
• The patient has received topical treatment (imiquimod, 5-fluorouracil, photodynamic therapy and/or cryotherapy) of nevoid basal cell carcinomas during the last three months

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Gorlin syndrome; Children aged six to seventeen years old with Gorlin syndrome and nevoid basal cell carcinomas.

Other: Active surveillance; Skin lesions clinically compatible with nevoid basal cell carcinomas are documented with measurements, clinical description, clinical photos and dermatoscopy photos every eight months for two years. Three representative skin lesions are selected at the first visit to be removed by skin biopsy at the end of the observation period (two years) for histopathological analyses. If a nevoid basal cell carcinoma shows a certain increases in size (according to pre-specified criteria of the study protocol), ulcerates, gets unevenly demarcated or give functional complaints during the observation period, the skin lesion will be excised.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Nevoid basal cell carcinoma size increase	Largest diameter (measured in millimeter) of nevoid basal cell carcinomas after two years surveillance compared to at baseline.	Two years
Dermatoscopy findings	Dermatoscopy findings of nevoid basal cell carcinomas compared to nevoid basal cell carcinoma size increase.	Two years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Nevoid basal cell carcinoma histology	Histological analysis, including immune histochemistry, of skin biopsies obtained from representative nevoid basal cell carcinomas.	Two years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical manifestations associated with nevoid basal cell carcinomas	Presence of congenital anomalities and benign neoplasias (odontogenic keratocysts, other cysts, fibromas) in patients with nevoid basal cell carcinomas.	Two years
Mutation burden in nevoid basal cell carcinomas analyzed by next-generation sequencing	Next-generation sequencing of DNA extracted from skin biopsies obtained from representative nevoid basal cell carcinomas, including genes described in skin carcinomas.	Two years

Collaborators and Investigators

• Sponsor: Oslo University Hospital
• Investigators: Principal Investigator: Kristin Hortemo, MD, PhD, Oslo University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2023
• Primary Completion (Estimated): June 1, 2025
• Study Completion (Estimated): December 31, 2025

Study Registration Dates

• First Submitted: May 29, 2023
• First Submitted That Met QC Criteria: June 8, 2023
• First Posted (Actual): June 12, 2023

Study Record Updates

• Last Update Posted (Actual): June 12, 2023
• Last Update Submitted That Met QC Criteria: June 8, 2023
• Last Verified: June 1, 2023

More Information

Terms related to this study

• Keywords: Dermatoscopy
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Glandular and Epithelial; Disease; Cysts; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Stomatognathic Diseases; Bone Diseases; Neoplastic Syndromes, Hereditary; Jaw Diseases; Abnormalities, Multiple; Bone Diseases, Developmental; Odontogenic Cysts; Jaw Cysts; Bone Cysts; Neoplasms, Basal Cell; Syndrome; Carcinoma; Basal Cell Nevus Syndrome; Carcinoma, Basal Cell
• Other Study ID Numbers: 487620

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No