1. Further delineation of four newly identified tumor predisposition syndromes in childhood cancer patients using 3D-analysis of facial morphology. 2. Identification of molecular genetic defects responsible for the tumor predisposition syndromes…
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
- Miscellaneous and site unspecified neoplasms malignant and unspecified
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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.
Secondary outcome
no
Background summary
Genetic syndromes can be associated with an increased risk for tumor
development. Previous studies in our center showed a significantly increased
incidence of morphological abnormalities and presence of (known or suspected)
syndromes in a cohort of 1,073 long-term survivors of childhood cancer and
pediatric patients with cancer.
Furthermore, statistically significant patterns of co-occurring morphological
abnormalities suggestive of new tumor predisposition syndromes were found.
Since many dysmorphic syndromes involve craniofacial abnormality, techniques
for objective analysis of facial abnormality such as three-dimensional (3D)
imaging of the face are relevant for supporting clinical diagnosis.
Karyotyping and molecular genetic techniques such as array based comparative
genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) arrays
may help to elucidate the underlying molecular defects of the newly identified
tumor predisposition syndromes.
Study objective
1. Further delineation of four newly identified tumor predisposition syndromes
in childhood cancer patients using 3D-analysis of facial morphology.
2. Identification of molecular genetic defects responsible for the tumor
predisposition syndromes using karyotyping and the molecular techniques SNP
array and/or array-CGH.
Study design
Observational cohort study
Study burden and risks
The 3D imaging of the face is non-invasive and will be performed using
photographic devices; there are no associated risks or clear burden for the
patients and their parent(s) at participation. In order to perform karyotyping,
aCGH and/or SNP array experiments, peripheral blood (PB) (15 ml) will be drawn.
The associated risk and burden will be that associated with a single PB
puncture. Further delineation of the new tumor predisposition syndromes and
identification of the molecular defects underlying these syndromes can be of
high importance in further care and counseling for the patient and his/her
family, and for other patients having the same new syndrome.
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Listed location countries
Age
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
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL23474.018.08 |