title: Somatic mutations in epidermal growth factor receptor underlying complete responsiveness to gefitinib in a Taiwanese female patient with metastatic adenocarcinoma of lung.
abstract: A 61-year-old never-smoker female suffered from adenocarcinoma of the lung with chest wall invasion and peri-adrenal lymph node metastases. After palliative resection of all clinically detectable primary and metastatic adenocarcinoma, she received cisplatin and gemcitabine combination chemotherapy for a total of 3 cycles. New metastatic lesions were found in spleen and para-aortic lymph nodes. Her tumor tissue was subjected to mutation analysis for epidermal growth factor receptor (EGFR) and had been shown to have a T-->G missense mutation in nucleotide 2819 of EGFR full-length cDNA (accession no. NM_005228.3), within exon 21 of the EGFR gene, resulting in amino acid substitutions from leucine to arginine at codon 858 (L858R) as expected. She received oral gefitinib 250 mg/day after mutation analysis. She had a very good tumor response with more than 90% tumor reduction shown by abdominal computed tomographic scan, normalization of previously elevated carcinoembryonic antigen level, and complete resolution of previous uptake signals in spleen and para-aortic lymph nodes shown by positron emission tomographic scan. She has been kept in clinical complete remission for 11+ months after the initiation of gefitinib treatment. Our patient supports the proposition that somatic mutation L858R in exon 21 of the EGFR gene accounts for complete responsiveness to gefitinib in a Taiwanese female patient with metastatic adenocarcinoma of lung.
authors: Division of Oncology and Hematology, Department of Internal Medicine, Far Eastern Memorial Hospital, Taipei, Taiwan. khyeh@mail.femh.org.tw
authors: Kun-Huei
authors: KH
authors: Yeh
authors: Shiou-Hwei
authors: SH
authors: Yeh
authors: Joeu-Pei
authors: JP
authors: Wan
authors: Ying-Chun
authors: YC
authors: Shen
authors: Ann-Lii
authors: AL
authors: Cheng
mesh_terms: D000230:Adenocarcinoma / Q000188:drug therapy* / Q000556:secondary; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D044466:Asian People; D002945:Cisplatin / Q000008:administration & dosage; D004252:DNA Mutational Analysis; D003841:Deoxycytidine / Q000008:administration & dosage / Q000031:analogs & derivatives; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D000077156:Gefitinib; D006801:Humans; D008175:Lung Neoplasms / Q000188:drug therapy* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011799:Quinazolines / Q000627:therapeutic use*; D000093542:Gemcitabine
chemical_list: D000970:Antineoplastic Agents; D011799:Quinazolines; D003841:Deoxycytidine; D066246:ErbB Receptors; D002945:Cisplatin; D000077156:Gefitinib; D000093542:Gemcitabine