TY - JOUR AU - Cohen, Romain AU - Sroussi, Marine AU - Pilati, Camilla AU - Houry, Sidney AU - Laurent-Puig, Pierre AU - André, Thierry PY - 2018 TI - Unresectable metastatic colorectal cancer patient cured with cetuximab-based chemotherapy: a case report with new molecular insights JF - Journal of Gastrointestinal Oncology; Vol 9, No 4 (August 01, 2018): Journal of Gastrointestinal Oncology Y2 - 2018 KW - N2 - Here we report the case of a 20-year-old patient who was diagnosed in 2002 with a metastatic colorectal cancer (CRC). He achieved a complete response under cetuximab-based therapy and remains without disease recurrence until now while chemotherapy was discontinued in 2009. The tumor exhibited high level of epidermal growth factor receptor ( EGFR ) amplification, no mutation in KRAS, NRAS or BRAF genes and a microsatellite-stable (MSS) phenotype. Intriguingly this young patient was carrying a monoallelic germline mutation of MUTYH that was associated with an inactivation of the second allele by loss of heterozygosity on tumor DNA. Moreover, this mutation was associated with a specific mutational signature on tumor level characterized by C > A single base substitutions and a higher mutational load than usually observed in MSS neoplasms. This case report paves the way for further researches on MUTYH -associated cancers’ sensitivity to anticancer therapies. UR - https://jgo.amegroups.org/article/view/21624