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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON32364

Enrollment

300

Registered

2008-12-11

Start date

2008-08-01

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

cancer syndromes tumor predisposition syndromes

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: zie inclusie criteria

Design outcomes

Primary

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

Measure

Time frame

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

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Secondary

Measure	Time frame
no	—

Countries

Netherlands

Outcome results