Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk

• Verfasst von: Villani, Anita [VerfasserIn]
• Verfasst von: Pajtler, Kristian Wilfried [VerfasserIn]
• Verfasst von: Pfister, Stefan [VerfasserIn]
• Titel: Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk
• Verf.angabe: Anita Villani, Mary-Louise C. Greer, Jennifer M. Kalish, Akira Nakagawara, Katherine L. Nathanson, Kristian W. Pajtler, Stefan M. Pfister, Michael F. Walsh, Jonathan D. Wasserman, Kristin Zelley, and Christian P. Kratz
• E-Jahr: 2017
• Jahr: June 14, 2017
• Umfang: 8 S.
• Fussnoten: Gesehen am 13.09.2018
• Titel Quelle: Enthalten in: Clinical cancer research
• Ort Quelle: Philadelphia, Pa. [u.a.] : AACR, 1995
• Jahr Quelle: 2017
• Band/Heft Quelle: 23(2017), 12, Seite e83-e90
• ISSN Quelle: 1557-3265
• DOI: doi:10.1158/1078-0432.CCR-17-0631
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1580958613

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.