Primary appendiceal
adenocarcinoma with peritoneal pseudomyxoma (PPM) has a high recurrence rate and refractory to medical interventions such as repetitive debulking surgery and systemic
chemotherapy. Genome-based targeted
therapy for such cases has not been well-documented. Here we present a 63-years-old women, who was diagnosed with recurrent
mucinous adenocarcinoma of the appendix with local invasions and
peritoneal carcinomatosis, was refractory to systemic
chemotherapy after surgery. We used a regime developed using whole exome sequencing. Somatic mutations in the genes encoding VEGFR2, FGFR1, FGFR2, FGFR3, and KRAS were identified in the patient's
tumor tissue. The patient was then treated with
bevacizumab plus
oxaliplatin. After 4 months of treatment, pelvic CT showed dramatic reduction of pseudomyoma and a decline of CA199 level from 5436.7 to 1121.4 U/ml. Continual treatment with
bevacizumab-
capecitabine remained effective and the patient's CA199 level further decreased to 401.26 U/ml according to the follow-up examination on Aug 15th, 2018. Results from this study show the evidence of gene mutations involving
VEGF signal activation in the recurrence of appendiceal
adenocarcinoma. Our results also suggest the association of these mutations with the effectiveness of anti-
VEGF treatment using
bevacizumab. Therefore, the screening of gene mutations involved in
VEGF signaling and targeted
therapy with anti-
VEGF drugs may provide a new option to manage refractory/recurrent advanced-stage appendiceal
adenocarcinoma.