profil mutasi gen epidermal growth factor receptor ekson

PROFIL MUTASI GEN EPIDERMAL GROWTH FACTOR
RECEPTOR EKSON 21 PADA PASIEN DENGAN KANKER
PARU JENIS ADENOKARSINOMA
Andika Priamas Nugrahanto, Didik Setyo Heriyanto,
Sumadi Lukman Anwar
Fakultas Kedokteran, Universitas Gadjah Mada
INTISARI
LATAR BELAKANG: Kanker paru merupakan penyumbang beban
penyakit kanker dan kematian akibat kanker tertinggi di
dunia. Adenokarsinoma paru merupakan jenis kanker paru
tersering yang biasanya terdiagnosis pada pasien wanita, ras
Asia dan bukan perokok. Adenokarsinoma paru sering dikaitkan
dengan mutasi gen EGFR. Pada populasi Asia, mutasi gen EGFR
terdeteksi paling banyak pada ekson 21. Saat ini pengobatan
untuk Adenokarsinoma masih mengandalkan pembedahan dan
kemoterapi,
yang
mempunyai
banyak
efek
samping
dan
efektifitasnya masih relatif rendah. Dengan ditemukanya
targeted
therapy
untuk
mutasi
ini,
peneliti
ingin
menganalisis frekuensi mutasi gen EGFR yang sebelumnya belum
pernah dilakukan di populasi Indonesia. Dengan demikian,
targeted therapy bias digunakan secara efektif pada pasien
kanker paru jenis adenokarsinoma.
TUJUAN: mengetahui profil mutasi gen EGFR ekson 21 pada
pasien kanker paru jenis adenokarsinoma.
METODE: Penelitian cross sectional terhadap mutasi gen EGFR
pada ekson 21 diantara 30 pasien Adenokarsinoma paru. DNA
diekstraksi kemudian dianalisis menggunakan PCR untuk gen
EGFR ekson 21, lalu dilanjutkan elektroforesis dan direct
sequencing. Data tersebut kemudian disusun dan dianalisis
profil mutasinya.
HASIL: Peneliti menemukan mutasi EGFR Ekson 21 sebesar
16,667%. Mutasi ekon ini memiliki persebaran usia ≤60 tahun
sebanyak 4 orang dan >60 tahun sebanyak 1 orang. Muutasi
EGFR ekson 21 ini didominasi jenis kelamin wanita yakni
sebanyak 3 orang sementara pria hanya 2 orang.
KESIMPULAN: Mutasi gen EGFR Ekson 21 di populasi Indonesia
sering ditemunkan pada pasien wanita dan usia <60 tahun.
Studi lebih lanjut dengan melibatkan pasien lebih banyak
dari wilayah lain di Indonesia dibutuhkan untuk memvalidasi
penemuan peneliti.
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EXON 21 EPIDERMAL GROWTH FACTOR RECEPTOR GENE
MUTATION PROFILE IN PATIENT WITH ADENOCARCINOMA
LUNG CANCER
Andika Priamas Nugrahanto, Didik Setyo Heriyanto,
Sumadi Lukman Anwar
Faculty of Medicine, Gadjah Mada University
ABSTRACT
BACKGROUND: Lung cancer contributes as one of the most
common cancer burden and related mortalilty in the world.
Adenocarcinoma lung cancer is the most frequent type of lung
cancer that is mostly diagnosed in female, Asian race and
non smokers patients. Adenocarcinoma is related to epidermal
growth factor receptor (EGFR) mutations incidences. In
Asian, EGFR gene mutations are detected mostly in exon 21.
Adenocarcinoma treatment nowadays is still using surgery and
chemotherapy, which has been related with significant side
effects. Effectivity of traditional therapy using surgery
and chemotherapy is relatively low in lung cancer. With the
invention of targeted therapy for EGFR mutations, we want to
analyze about EGFR gene mutation frequency that previously
hasn’t been explored in Indonesian population. Therefore,
application of targeted therapy can be properly and
effectively delivered to lung cancer patients.
Objective: to investigate exon 21 EGFR gene mutation
profiles in patients with adenocarcinoma lung cancer.
Methods: Cross sectional study design was conducted for
exon 21 EGFR gene mutation among 30 adenocarcinoma lung
cancer pateints. DNA was extracted and then analyzed by
using PCR for exon 21 EGFR gene, which later followed by
electrophoresis and direct sequencing. The data is compiled
and analyzed.
Results: We found 16,67% of all adenocarcinoma lung cancer
with exon 21 EGFR gen mutations. Those with mutations, 4
subjects were ≤60 years old and 1 subject was >60 years old.
Mutations on exon 21 EGFR genes is predominantly female (3
females), compared only 2 males.
Conclusion: Mutation of exon 21 EGFR genes in our population
were commonly found in female patients and
≤60 years.
Further study involving more patients from different
Indonesian regions is required to validate our findings.
xi