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CASE REPORT An Uncommon Insertion Mutation in Exon 19 of EGFR Showed Stable Disease after TKI Treatment Anthony W.H. Chan, FRCPA,* Joanna H.M. Tong, PhD,* Sing-Hung Lo, FRCR,† and Ka Fai To, FRCPA* n October 2010, a 55-year-old Chinese woman presented Iwith a T3N3M1a (stage IV) adenocarcinoma of left lung. She had left apical main tumor with carcinomatosis of both lungs, and metastatic lymphadenopathies of left hilar, right paratracheal, right supraclavicular, aortopulmonary, and sub- carinal lymph nodes. She presented with a Karnofsky perfor- mance score of 80% and an Eastern Cooperative Oncology FIGURE 1. An insertion mutation by duplica- Group performance score of 1, and had never smoked. tion of 18 nucleotides at position 2214_2231 Molecular analysis was performed on a formalin-fixed (c.2232insTAAAATTCCCGTCGCTAT/ c.2214_2231dup) and paraffin-embedded tissue derived by bronchoscopic in exon 19 leads to the insertion of 6 amino acids transbronchial biopsy. Tumor cells were isolated from paraf- (p.K745_E746insIPVAIK). fin tissue by manual microdissection. Mutations in exons 18, 19, 20, and 21 of epidermal growth factor receptor (EGFR) gene were analyzed by polymerase chain reaction direct sequencing. An insertion mutation in exon 19 was identified: c.2232insTAAAATTCCCGTCGCTAT (c.2214_2231dup) p.K745_E746insIPVAIK (Fig. 1). Despite uncertain clinical response of this mutation at time of diagnosis, the patient preferred tyrosine kinase inhibi- tor (TKI) treatment over conventional chemotherapy, after detailed discussion with the oncologist. Erlotinib 150 mg once daily was initiated in December 2010. Patient’s symp- toms
Journal of Thoracic Oncology – Wolters Kluwer Health
Published: Dec 1, 2013
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