A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.
Noonan syndrome (NS) is a developmental syndrome caused by germline mutations in the Ras signaling pathway. No association has been shown between NS and pediatric colorectal cancer (CRC). We report the case of CRC in a pediatric patient with NS. The patient underwent whole genome sequencing. A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. No known hereditary cancer syndromes were identified. Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). This report highlights the complexity of Ras signaling and the interplay between developmental syndromes and cancer.
['Prasad|Rahul M|RM|0000-0003-0636-9370', 'Mody|Rajen J|RJ|0000-0001-5574-1779', 'Myers|George|G|', 'Mullins|Melisa|M|', 'Naji|Zaher|Z|', 'Geiger|James D|JD|']
D000293:Adolescent D015179:Colorectal Neoplasms D005260:Female D055106:Genome-Wide Association Study D018095:Germ-Line Mutation D006801:Humans D009634:Noonan Syndrome D056971:Nuclear Receptor Co-Repressor 1 D020837:SOS1 Protein D016159:Tumor Suppressor Protein p53
Noonan syndrome tumors molecular genetics pediatric hematology/oncology rare tumors solid