title: MEK inhibitor treatment is effective in a patient with metastatic carcinoma of the ampulla of Vater with BRAF and NRAS mutations shown by next-generation sequencing.
abstract: Here, we present a case of an 84-year-old woman who developed obstructive jaundice and was diagnosed with nonoperable adenocarcinoma originating from the ampulla of Vater, a lethal disease with a median overall survival of less than a year. Her tumor was examined by next-generation sequencing, which showed BRAF and NRAS mutations. To target these mutations, a MEK inhibitor was chosen for treatment. The patient has been treated with a MEK inhibitor for the last 12 months since diagnosis, with clinical and laboratory improvement and manageable side effects. PET-computed tomography imaging has shown stable disease or improvement in the primary and metastatic lesions. This is the first case report of an ampulla of a Vater cancer patient with NRAS and BRAF mutations, identified in next-generation sequencing, and treated successfully with a MEK inhibitor.
authors.affiliation: aShaare Zedek Medical Center bSchool of Medicine, Hebrew University, Jerusalem, Israel cMemorial Sloan Kettering Cancer Center, New York, New York, USA.
authors.forename: Esther
authors.initials: E
authors.lastname: Tahover
authors.forename: Rachel
authors.initials: R
authors.lastname: Bar Shalom
authors.forename: Naama
authors.initials: N
authors.lastname: Bogot
authors.forename: David
authors.initials: D
authors.lastname: Kelsen
authors.forename: Alberto
authors.initials: A
authors.lastname: Gabizon
mesh_terms: D000369:Aged, 80 and over; D014670:Ampulla of Vater / Q000473:pathology; D003138:Common Bile Duct Neoplasms / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020930:MAP Kinase Kinase Kinases / Q000037:antagonists & inhibitors*; D008565:Membrane Proteins / Q000235:genetics*; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D011728:Pyridones / Q000009:adverse effects / Q000627:therapeutic use; D011744:Pyrimidinones / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D008565:Membrane Proteins; D047428:Protein Kinase Inhibitors; D011728:Pyridones; D011744:Pyrimidinones; C560077:trametinib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D020930:MAP Kinase Kinase Kinases; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human