- Author
-
F.A.M. Postema
- Title
- Screening for tumor predisposition syndromes in childhood cancer
- Supervisors
-
R.C.M. Hennekam
- Co-supervisors
- Award date
- 17 November 2020
- Number of pages
- 263
- ISBN
- 9789464161830
- Document type
- PhD thesis
- Faculty
- Faculty of Medicine (AMC-UvA)
- Abstract
-
Approximately 10% of children with cancer have an underlying cause for their cancer: a tumor predisposition syndrome (TPS). The recognition of TPSs in children with cancer is important, as it has clinical consequences. It may (1) lead to recognition of other signs and symptoms unrelated to cancer, (2) affect cancer treatment, (3) allow for suitable cancer surveillance strategies, (4) offer insights into the prognosis of the child, and (5) can facilitate adequate genetic counselling of the child and its family members. Therefore, in an ideal situation, all children with cancer should be evaluated for the possibility of having a TPS.
In this thesis the clinical value of a screening tool used to identify TPSs in children with cancer was assessed. First, all the consequences and importance of identifying TPSs in children with cancer is systematically described. Secondly, the methodology of the implementation of the tool is further elaborated. All pediatric tumors with a high association are described. Finally, the validation of the tool is described. In addition, facial 3D photography of children with cancer is compared to healthy controls.
Research in this thesis emphasizes the importance of and provides guidance in diagnosing TPSs in children with cancer. - Persistent Identifier
- https://hdl.handle.net/11245.1/f2732049-ad76-4c1a-9392-a02c3fba527c
- Downloads
-
Thesis (complete)
Front matter
Chapter 1: General introduction
Chapter 2: Genetic control of tumor development in malformation syndromes, tumors and tumor predisposition syndromes
Chapter 3: Multiple tumors due to mosaic genome-wide paternal uniparental disomy
Chapter 4: Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review
Chapter 5: Childhood tumors with a high probability of being part of a tumor predisposition syndrome; Reason for referral for genetic consultation
Chapter 6: Validation of a clinical screening instrument for tumor predisposition syndromes in patients with childhood cancer (TuPS): Protocol for a prospective, observational, multicenter study
Chapter 7: Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS), a prospective, observational, multi-center study
Chapter 8: 3D analysis of facial morphology in Dutch children with cancer
Chapter 9: Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation
Chapter 10: Summary and general discussion
Chapter 11: Dutch summary (Nederlandse samenvatting)
List of co-authors; List of publications; PhD portfolio; About the author; Dankwoord
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