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

Sri Mulatsih, Sutaryo Sutaryo, Sunarto Sunarto, Allen Yeoh, Yeow Liang, Sofia Mubarika

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


profil klinis-LLA-TEL-AML1-BCR-ABL-E2A-PBX1

Teks Lengkap:

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Referensi


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. TEL􀀀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

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