Yeow Liang, Yeow
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Karakteristik Klinis Pasien Leukemia Limfoblastik Akut (LLA) dengan Fusi Gena TELAML1, BCR-ABL, dan E2A-PBX1

Sari Pediatri Vol 11, No 2 (2009)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

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Abstract

Latar belakang. Leukemia limfoblastik akut (LLA) pada anak merupakan penyakit yang heterogen. Berdasarkangambaran selular dan molekular, LLA mempunyai beberapa subtipe yang berbeda. Fusi gena palingsering pada LLA anak adalah TEL-AML1, BCR-ABL, E2A-PBX1, dan MLL-AF4.Tujuan. Mengetahui profil klinis pasien LLA dengan fusi gena TEL-AML1, BCR-ABL, E2A-PBX1.Metode. Studi cross sectional, untuk menganalisis profil fusi gena digunakan metode nested reverse-transcriptasepolymerase chain reaction (RT-PCR).Hasil.Tidak ditemukan perbedaan dalam hal karakteristik klinis seperti jenis kelamin, usia, jumlah leukosit,kelompok risiko, dan tipe LLA diantara pasien LLA dengan fusi gena TEL-AML1 dan E2A-PBX1 (p>0,05).Fusi gena BCR-ABL tipe LLA lebih banyak terjadi pada kelompok pasien dengan leukosit awal >50.000/uLdibanding kelompok yang mempunyai leukosit awal <50.000/uL (p=0,031). Tidak ada perbedaan dalam haljenis kelamin, usia, kelompok risiko dan tipe LLA diantara pasien LLA dengan gena BCR-ABL (p>0,05).Kesimpulan. Karakteristik klinis pasien dengan fusi gena TEL-AML1, BCR-ABL, E2A-PBX1 adalah sama,kecuali pada kelompok pasien dengan jumlah leukosit >50.000/uL lebih banyak terjadi pada pasien denganfusi gena BCR-ABL.

Translocation ETS leukemia-acute myeloid leukemia 1 (TEL-AML1) gene fusion in childhood acute lymphoblastic leukemia

Paediatrica Indonesiana Vol 49 No 5 (2009): September 2009
Publisher : Indonesian Pediatric Society

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Abstract

Background Acute lymphoblastic leukemia (ALL) in childrenis a heterogeneous disease with different subtypes based on their cellular and molecular characteristics. This condition wouldinfluence the treatment outcome and subsequent risk for relapse. Accurate assignment of individual patients to risk groups is a critical issue for better outcome. TEL-AML1 gene fusion is themost frequent in childhood ALL.Objective The aim of this study was to investigate the incidenceofTEL-AML1 children with ALL in Sardjito Hospital.Methods This was a cross sectional study. In this preliminarystudy, we used nested reverse-transcriptase polymerase chainreaction (RT-PCR) to analyze the present of TEL-AML1 genefusion in bone marrow sample of childhood ALL patients.Results We analyzed 41 samples. Out of these, 30 (73%) wereamplified. Twenry three out of 30 ALL patients with good medicalrecord were analyzed for this gene fusion. Out of 30 patients, there were five patients (17%) with TEL-AML1-positive gene fusion and 25 (83%) were TEL-AML1-negative. Among five patients with TEL-AML1-positive gene fusion, four patients (80%) were one year to less than 10 year old. All of the patients (100%) were with leukocyte < 50x109/L.Conclusions TEL-AML1 gene fusion was found in 17 % ofsamples. This gene fusion was more frequent in standard risk group (based on age and leukocyte). These data must be clarified with more samples. RT-PCR must be apply in all center as one part of improving diagnostic quality, especially in managing leukemia patients.