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Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
- Source :
-
Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2017 Jun 15; Vol. 23 (12), pp. e83-e90. - Publication Year :
- 2017
-
Abstract
- In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83-e90. ©2017 AACR See all articles in the online-only CCR Pediatric Oncology Series.<br /> (©2017 American Association for Cancer Research.)
- Subjects :
- Abnormalities, Multiple genetics
Abnormalities, Multiple pathology
Brain Neoplasms epidemiology
Brain Neoplasms genetics
Brain Neoplasms pathology
Colorectal Neoplasms epidemiology
Colorectal Neoplasms genetics
Colorectal Neoplasms pathology
Congenital Hypothyroidism genetics
Congenital Hypothyroidism pathology
Costello Syndrome epidemiology
Costello Syndrome genetics
Costello Syndrome pathology
Craniofacial Abnormalities genetics
Craniofacial Abnormalities pathology
Hand Deformities, Congenital genetics
Hand Deformities, Congenital pathology
Humans
Intellectual Disability genetics
Intellectual Disability pathology
Mutation
Nails, Malformed genetics
Nails, Malformed pathology
Neoplastic Syndromes, Hereditary epidemiology
Neoplastic Syndromes, Hereditary genetics
Neoplastic Syndromes, Hereditary pathology
Noonan Syndrome epidemiology
Noonan Syndrome genetics
Noonan Syndrome pathology
Protein Tyrosine Phosphatase, Non-Receptor Type 11 genetics
Risk Factors
Rubinstein-Taybi Syndrome genetics
Rubinstein-Taybi Syndrome pathology
Sotos Syndrome genetics
Sotos Syndrome pathology
Thyroid Nuclear Factor 1 genetics
Abnormalities, Multiple epidemiology
Congenital Hypothyroidism epidemiology
Craniofacial Abnormalities epidemiology
Hand Deformities, Congenital epidemiology
Intellectual Disability epidemiology
Nails, Malformed epidemiology
Rubinstein-Taybi Syndrome epidemiology
Sotos Syndrome epidemiology
Subjects
Details
- Language :
- English
- ISSN :
- 1557-3265
- Volume :
- 23
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Clinical cancer research : an official journal of the American Association for Cancer Research
- Publication Type :
- Academic Journal
- Accession number :
- 28620009
- Full Text :
- https://doi.org/10.1158/1078-0432.CCR-17-0631