Delineation of novel tumor predisposition syndromes is patients with childhood cancer and identification of the underlying molecular defects

Conditions: cancer syndromes
10027664
10027655
tumor predisposition syndromes

Registration Number: NL-OMON32364

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 300

Inclusion Criteria

-Patients diagnosed with pediatric cancer and identified to show 1 of the 4 patterns of morphological abnormalities indicative of novel tumorpredisposition syndromes (blepharophimosis (BP) pattern, asymmetric lower limbs (ALL)pattern, epicanthal folds (EF) pattern, Sydney creases (SC) pattern)
-Written informed consent by patient when aged 18 years or older, by patient and parents when 12 years or older but younger than 18 years, by parents when younger than 12 years, and written informed consent by parent(s).

Exclusion Criteria

zie inclusie criteria

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. In order to objectify and specify craniofacial abnormalities of the four new<br /><br>syndromes, three- dimensional (3D) analysis of facial (dys)morphology will be<br /><br>performed using dense surface models.<br /><br>2. In order to further investigate and identify molecular defects underlying<br /><br>the four new tumor predisposition syndromes, karyotyping, array CGH experiments<br /><br>and/or SNP array will be performed to identify copy number changes and<br /><br>microdeletions. Karyotyping will be performed in order to identify balanced<br /><br>translocations.</p><br>

Secondary Outcome Measures