Peran Sitogenetika pada Leukemia Mieloid Kronik

Himawan sartono,1 Haryono Soeharto2

1
Program Pendidikan Dokter Spesialis Patologi Klinik, Fakultas Kedokteran, Kesehatan
Masyarakat, dan Keperawatan, Universitas Gadjah Mada.
2
Departemen Patologi Klinik dan Kedokteran Laboratorium,Fakultas Kedokteran,
Kesehatan Masyarakat, dan Keperawatan, Universitas Gadjah Mada.

INTISARI
Pendahuluan : Leukemia mieloid kronik merupakan penyakit keganasan hematologi
yang prevalensinya meningkat di masa depan. Pada mulanya keganasan hematologi
diklasifikasikan hanya berdasarkan morfologi menurut klasifikasi French-American-
British (FAB). Perkembangan selanjutnya, yang paling diterima adalah klasifikasi
Organisasi Kesehatan Dunia (WHO) tahun 2008, yang mengintegrasikan
pemeriksaaan sitogenetika. Tinjauan pustaka ini akan membahas peran sitogenetika
pada leukemia mieloid kronik.
Pembahasan : Pemeriksaan sitogenetika pada leukemia kronik digunakan untuk
mendeteksi kromosom Philadelpia dalam penegakkan diagnosis, evaluasi respon
terapi ( respon sitogenetik ), dan mendeteksi kelainan kromosom tambahan atau
Acquired Additional Chromosomal Aberration (ACA). ACA merupakan aberasi
skunder yang dapat muncul bersamaan dengan kromosom Philadelphia dan sering
mendominasi kariotip pasien pasien yang telah memasuki tahap lanjut. ACA dijumpai
10 - 12 % pada fase akselerasi leukemia mieloid kronik berkaitan dengan peningkatan
risiko kegagalan respon terapi terhadap inhibitor tirosin kinase, peningkatan relaps,
peningkatan progresivitas penyakit, dan penurunan ketahanan hidup.
Kesimpulan : Sitogenetika berperan penting dalam tatalaksana leukemia mieloid
kronik. Penggabungan berbagai pemeriksaan mulai dari gambaran klinis, hematologi,
gambaran sumsum tulang, PCR, dan analisis sitogenetika, sesuai dengan panduan
WHO, akan diperoleh tatalaksana terapi yang komprehensif dan personal, yang
menghasilkan keberhasilan terapi yang efektif.

Kata kunci : Sitogenetika, Leukemia Mieloid Kronik, kromosom Phliadelphia,

respon sitogenetik, Acquired Additional Chromosomal Aberration (ACA)

The Role of Cytogenetics in Chronic Mieloid Leukemia

3
 Himawan sartono,1 Haryono Soeharto2
1
Clinical Pathology Specialist Education Program, Faculty of Medicine, Public
Health, and Nursing, Universitas Gadjah Mada.
2
Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine,
Public Health, and Nursing, Universitas Gadjah Mada.

ABSTRACT

Introduction : Chronic myeloid leukemia is one of the hematological malignancies

whose prevalence will continue to increase in the future. Initially the hematgan was
determined based on morphology according to the French-American-English
classification (FAB). Over time, many of the classifications developed but most
accepted are the classification of the World Health Organization (WHO) in 2008,
which integrates cytogenetic testing. This literature review will discuss the
cytogenetic role of chronic myeloid leukemia.
Discussion : Cytogenetic examination in chronic leukemia is used to detect
Philadelphia chromosomes for diagnosis, evaluation of therapeutic responses
(cytogenetic response), and detecting additional chromosomal abnormalities or
Acquired Additional Chromosomal Aberration (ACA). ACA is a secondary aberration
that can appear together with the Philadelphia chromosome and often dominates the
karyotype of patients who have entered the advanced stage. ACA found in 10-12% in
the accelerated phase of chronic myeloid leukemia is associated with an increased risk
of failure of the therapeutic response to tyrosine kinase inhibitors, increased relapse,
increased progression of the disease, and decreased survival.
Conclusion : Cytogenetics plays an important role in the management of chronic
myeloid leukemia. The combination of various examinations starting from clinical,
hematological, bone marrow, PCR, and cytogenetic analysis, in accordance with
WHO guidelines, will be obtained in a comprehensive and personalized treatment
procedure, which results in effective therapeutic success.

Keywords: Cytogenetics, Chronic Myeloid Leukemia, Phliadelphia chromosome,

Cytogenetic Response, Acquired Additional Chromosomal Aberration (ACA)