The reciprocal translocation t(9;22)(q34;q11) which gives rise to the Philadelphia (Ph1) chromosome and BCR/ABL fusion gene, plays a pivotal role in the diagnosis and pathogenesis of chronic myeloid leukemia (CML). In this study, we evaluated the role of fluorescence in situ hybridisation (FISH) in detecting the BCR/ABL rearrangement in CML patients. The sensitivity, specificity and detection rate of BCR/ABL gene using FISH, PCR and conventional cytogenetics (karyotyping) methods were also compared. 18 bone marrow samples of patients with clinically diagnosed CML and suspected of CML were collected. The sensitivity, specificity and positive predictive values of FISH were altogether 100% while the sensitivity, specificity and positive predictive values for conventional cytogenetics (karyotyping) were 85%, 100% and 100% respectively. Convetional cytogenetics (karyotyping) detected an additional chromosomal aberration in addition to the Ph1 chromosome. In conclusion, FISH is a highly sensitive method in detecting the BCR/ABL gene. Conventional cytogenetics (karyotyping) remains an important investigation in the work up of suspected CML patients since there is a possibility of detecting chromosomal aberrations in addition to the Ph1 translocation. Therefore, conventional cytogenetics (karyotyping) and FISH are complementary techniques and their results should be interpreted together with clinical information.
Detection of BCR/ABL Gene in Chronic Myeloid Leukaemia: Comparison of Fluorescence in situ Hybridisation (FISH), Conventional Cytogenetics and Polymerase Chain Reaction (PCR) Techniques
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Abstrak
Translokasi salingan t(9; 22)(q34; q11) yang menghasilkan kromosom Philadelphia (Ph1) dan juga gen lakuran BCR/ABL memainkan peranan utama dalam diagnosis dan patogenesis penyakit leukemia myeloid kronik (CML). Didalam kajian ini, kami mengkaji peranan teknik pendaflor in situ hibridasasi (FISH) dalam mengesan gen lakuran BCR/ABL pada 18 sampel aspirasi sumsum tulang daripada pesakit CML dan pesakit yang disyaki menghidap CML. Kami juga membuat analisa perbandingan mengenai kesensitifan, spesifisiti dan kadar pengesanan gen lakuran BCR/ABL di antara teknik penghibridan pendaflor (FISH), kariotip sitogenetik dan tindak balas berantai polimerase (PCR).Sensitiviti, spesifisiti dan kadar pengesanan untuk FISH adalah 100% untuk kesemuanya. Untuk kariotip sitogenetik pula, sensitiviti, spesifisiti dan kadar pengesanan adalah 85%, 100% dan 100% masing- masing. Kariotip sitogenetik juga telah mengesan sejenis aberasi kromosom di samping Ph1. Kajian ini menunjukkan kaedah FISH adalah sangat sensitif dalam mengesan gen lakuran BCR/ABL. Kariotip sitogenetik tetap menjadi salah satu kaedah utama dalam penyiasatan pesakit CML kerana terdapat kebarangkalian mengesan aberasi kromosom disamping Ph1. Oleh itu, kariotip sitogenetik dan FISH adalah dua teknik (komplementari) yang saling melengkapi dalam pengesanan gen lakuran BCR/ABL pada pesakit CML.
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Related Images
 image1.jpg)
 table1.jpg "TABLE 1. Patient’s characteristics and results of cytogenetics, FISH and RT-PCR.")
 table2.jpg "TABLE 2. Correlation between Conventional Cytogenetics and RT-PCR.")
 table3.jpg "TABLE 3. Correlation between FISH and RT-PCR.")
 table4.jpg "TABLE 4. Correlation between Conventional Cytogenetics and FISH.")
