Case Report

Uncommon EGFR Mutation p.S768I in Non Small Cell

Lung Carcinoma
Agus Fitriyanto Achmad*, Susanna Hilda Hutajulu**, Mardiah Suci Hadianti**, Kartika Widayati**, Ibnu Purwanto**, Johan
Kurnianda**

*Trainee of hematology and medical oncology, division of hematology and medical oncology, department of internal medicine
Dr. Sardjito hospital Yogyakarta

**Division of hematology and medical oncology, department of internal medicine Dr. Sardjito hospital Yogyakarta

Backgroud : The epidermal growth factor receptor (EGFR) gene, located on

chromosome 7p12, consists of 28 exons and 27 introns. May 2016, approximately
16000 EGFR mutations are registered and 594 types of EGFR mutations are reported.
Among them, 93% are present in the first four exons (18–21) of the gene encoding
tyrosine kinase domain. Somatic mutations in the kinase domain of the EGFR gene
are detected in approximately 40% and 17% of lung adenocarcinoma in Asians and in
Caucasians.
Case : 64-Year-Old Male Clerk, Non Smoker
Left pleural effusion on January 2016, no malignant cell found in pleural effusion,
and treat as tuberculosis infection. Nodule in left chest and left groin on August 2016.
Biopsy nodule of left chest : adenocarcinoma (September 2016). Patient given
chemotherapy with Gemcitabine-Carboplatin 4 cycles (October-December 2016).
After chemotherapy 4 cycles, disease progressed. EGFR mutation test from cytologi
slide on December 2016 : percentage of tumor cell : > 50%, method : q.RT-PCR (high
resolution melt), EGFR (Exon 18,19, 20 & 21) : Mutation detected on Exon 20
(c.2303 G>T). Patient given gefitinib.
Discussion : Common mutations (exon 19 deletions [Del19] and L858R mutation in
exon 21) are associated with sensitivity to EGFR TKI. EGFR mutations other than
Del19 and L858R are variably termed either minor (less common) or uncommon
mutations. p.S768I mutation was substitution serine to isoleucine at codon 768 of
exon 20. Frequency of EGFR mutation p.S768I is 1,1%. Clinicopathologic
characteristic of patients with EGFR p.S768I mutation including female, age > 60
years old, non smoker, adenocarcinoma. Choice of EGFR TKI for p.S768I mutation
was afatinib rather than gefitinib and erlotinib.

Keyword : EGFR mutation, S768I, non small cell lung carcinoma, afatinib

Email : agusfachmad@yahoo.com