Karakteristik Klinis Pasien Leukemia Limfoblastik Akut (LLA) dengan Fusi Gena TELAML1, BCR-ABL, dan E2A-PBX1
Sari
Latar belakang. Leukemia limfoblastik akut (LLA) pada anak merupakan penyakit yang heterogen. Berdasarkan
gambaran selular dan molekular, LLA mempunyai beberapa subtipe yang berbeda. Fusi gena paling
sering 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-transcriptase
polymerase 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/uL
dibanding kelompok yang mempunyai leukosit awal <50.000/uL (p=0,031). Tidak ada perbedaan dalam hal
jenis 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 dengan
fusi gena BCR-ABL.
Kata Kunci
Teks Lengkap:
PDFReferensi
Pui CH. Acute lymphoblastic leukemia. N Engl J Med
;339:605-9.
Hanahan D, Weinberg RA. The hallmarks of cancer. Cell
;100:57-70. Cit Pui, CH, Relling MV, Downing
JR. Mechanism of disease acute lymphoblastic leukemia.
Narrator Engl J Med 2004;350:1535-48.
Friedman AM, Weinstein HJ. The role of prognostic
features in the treatment of childhood acute lymphoblastic
leukaemia. Oncologist 2000;5:321-8.
Pui CH, Evans WE. Treatment of acute lymphoblastic
leukaemia. N Engl J Med 2006;354:166-78. Arico M,
Valsecchi MG, Camitta B, Schrappe M, Chessell J,
Baruchel A, dkk. Outcome of treatment in children with
Philadjelphia chromosome-positive acute lymphoblastic
leukemia. N Engl J Med 2000;342:998-1006.
Hariyana SM. The importance of molecular biology
studies of clinical leukemia in Indonesia. Scientific
seminar on leukemia, Yogyakarta, 26 September 1998.
Zuna. The role of TEL and AML1 genes in the
pathogenesis of hematologic malignancies. Cas Lek Cesk
;140:131-7.
Diakos C, Krapf G, Gerner C, Inthal A, Lemberger C,
Ban J, dkk. RNAi-mediated silencing of TEL-AML1
reveals a heat-shock protein–and survivin-dependent
mechanism for survival. Blood 2007;109:2607-10.
McLean TW, Ringold S, Neuberg D, Stegmaier K,
Tantravahi R, Ritz J, Koeffler HP, dkk. T.R. TEL/AML-1
dimerizes and is associated with a favorable outcome
in childhood acute lymphoblastic leukemia. Blood
;88:4252-8.
Shurtleff SA, Buijs A, Behm FG, Rubnitz JE, Raimondi
SC, Hancock ML, dkk. TELô€€€AML1 fusion resulting
from a cryptic t(12;21) is the most common genetic
lesion in pediatric ALL and defines a subgroup of
patients with an excellent prognosis. Leukemia
;9:1985-9.
Liang DC, Shih LY, Yang CP, Hung IJ, Chen SH, Jaing
TH, dkk. Multiplex RT-PCR assay for the detection
of major fusion transcripts in taiwanese children with
b-lineage acute lymphoblastic leukemia. Med Pediatr
Oncol 2002;39:12-7.
Pakakasama S, Kajanachumpol S, Kanjanapongkul S,
Sirachainan N, Meekaewkunchrn A, Ningsanond V,
dkk. Simple multiplex RT-PCR for identifying common
fusion transcripts in childhood acute leukemia. Int J Lab
Hematol 2008;30:286–91.
Zena PRG, Limab MC, Coserc VM, Sillad ML, Daudtd
L, Fernandese MS, dkk. Prevalence of TEL/AML1
fusion gene in Brazilian pediatric patients with acute
lymphoblastic leukemia. Cancer Genet and Cytogenet
;151:68–72.
Romana SP, Mauchaufee M, Coniat ML, Chumakov
I., Paslier DL, Berger R, dkk. The t(12;21) of acute
lymphoblastic leukemia results in a tel-AML1 gene
fusion. Blood 1995;85:3662-70.
Rubnitz JE, Wichlan D, Devidas M, Shuster J, Linda
SB, Kurtzberg J, dkk. Prospective Analysis of TEL Gene
Rearrangements in Childhood Acute Lymphoblastic
Leukemia: A Children’s Oncology Group Study. J Clin
Oncol 2008;26:2186-91.
Gaynon PS, Steinherz PG, Bleyer WA, Ablin AR,
Albo VC, Finklestein JZ, dkk. Improved therapy
for children with acute lymphoblastic leukemia and
unfavorable presenting features: A follow-up report of
the Children’s Cancer Group Study CCG-106. J Clin
Oncol 1993;11:2234 42.
Brisco MJ, Sykes PJ, Dolman G, Neoh SH, Hughes E,
Peng LM. dkk. Effect of the Philadelphia chromosome
on minimal residual disease in acute lymphoblastic
leukemia [see comments]. Leukemia 1997;11:1497-
Wickremasingbe RG, Hoffbrand V. Molecular basis
of leukemia and lymphoma. In edited Drew Provan
and John Gribben foreword bu M.F. Perutz. Molecular
Haematol 2000. United Kingdom; Blackwell Science;
h.25-40.
Arico M, Valsecchi MG, Camitta B, Schrappe M,
Chessells J, Baruchel A. Outcome of Treatment in
Children with Philadelphia Chromosome-Positive Acute
Lymphoblastic Leukemia N Engl J Med 2000;342,998-
Pui CH, Evans. Acute lymphoblastic leukaemia. N Engl
J Med 2004;339:605-15.
DOI: http://dx.doi.org/10.14238/sp11.2.2009.118-123
Refbacks
- Saat ini tidak ada refbacks.
##submission.copyrightStatement##
##submission.license.cc.by-nc-sa4.footer##
Email: editorial [at] saripediatri.org
Sari Pediatri diterbitkan oleh Badan Penerbit Ikatan Dokter Anak Indonesia
Ciptaan disebarluaskan di bawah Lisensi Creative Commons Atribusi-NonKomersial-BerbagiSerupa 4.0 Internasional.