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Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome

Sabir, N.; Iqbal, Z.; Aleem, A.; Awan, T.; Naeem, T.; Asad, S.; Tahir, A.H.; Absar, M.; Hasanato, R.M.W.; Basit, S.; Chishti, M.A.; Ul-Haque, M.F.; Khalid, A.M.; Sabar, M.F.; Rasool, M.; Karim, S.; Khan, M.; Samreen, B.; Akram, A.M.; Siddiqi, M.H.; et al.
Fonte: Korean Institute of Science and Technology Information Publicador: Korean Institute of Science and Technology Information
Tipo: Artigo de Revista Científica
Publicado em //2012 Português
Relevância na Pesquisa
Background and objectives: Chromosomal abnormalities play an important role in genesis of acute lymphoblastic leukemia (ALL) and have prognostic implications. Five major risk stratifying fusion genes in ALL are BCR-ABL, MLL-AF4, ETV6-RUNX11, E2A-PBX1 and SIL-TAL1. This work aimed to detect common chromosomal translocations and associated fusion oncogenes in adult ALL patients and study their relationship with clinical features and treatment outcome. Methods: We studied fusion oncogenes in 104 adult ALL patients using RT-PCR and interphase-FISH at diagnosis and their association with clinical characteristics and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL (t 9; 22), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (Del 1p32) were found in 82/104 (79%) patients. TCF3-PBX1 fusion gene was associated with lymphadenopathy, SIL-TAL1 positive patients had frequent organomegaly and usually presented with a platelets count of less than . Survival of patients with fusion gene ETV6-RUNX1 was better when compared to patients harboring other genes. MLL-AF4 and BCR-ABL positivity characterized a subset of adult ALL patients with aggressive clinical behaviour and a poor outcome. Conclusions: This is the first study from Pakistan which investigated the frequency of5 fusion oncogenes in adult ALL patients...