Molecular analysis of childhood B-acute lymphoblastic leukemia: Identification and prognosis of rare breakpoints

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• 作者：D. Kumar ; M. K. Panigrahi ; K. K. Saikia ; G. Kapoor ; A. Mehta
• 关键词：FISH ; PCR ; transcript ; B ; ALL
• 刊名：Molecular Biology
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：49
• 期：6
• 页码：843-847
• 全文大小：765 KB
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  4.Garg R., Kantarjian H., Thomas D., et al. 2009. Adults with acute lymphoblastic leukemia and translocation (1;19) abnormality have a favourable outcome with hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone alternating with methotrexate and high-dose cytarabine chemotherapy. Cancer. 115 (10), 2147-154.PubMedCentral CrossRef PubMed
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• 作者单位：D. Kumar (1)
  M. K. Panigrahi (1)
  K. K. Saikia (2)
  G. Kapoor (1)
  A. Mehta (1)
  
  1. Rajiv Gandhi Cancer Institute & Research Centre, Delhi, 110085, India
  2. Gauhati University, Guwahati, Assam, 781014, India
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Life Sciences
  Biochemistry
  Human Genetics
  Russian Library of Science
  
• 出版者：MAIK Nauka/Interperiodica distributed exclusively by Springer Science+Business Media LLC.
• ISSN：1608-3245

文摘

Acute lymphoblastic leukaemia (ALL) is the most common subtype of childhood cancer. Detection of a specific gene rearrangement allows the identification of prognostically relevant subgroups in childhood B-ALL. There are four common gene rearrangements which are widely studied to see prognostical values (TEL-AML1, BCR-ABL, E2A-PBX1, MLL-AF4) in childhood B-ALL. In this study we show the prevalence of these common gene rearrangements and also explain the way to identify some rare breakpoints which also occur in these gene rearrangements. 97 samples received for diagnosis from paediatric B-ALL patients were included in this study. Qualitative reverse transcriptase PCR was used for detection of the TEL-AML1-t(12;21), E2A-PBX1-t(1;19), BCR-ABL1-t(9;22) and MLL-AF4 t(4;11) fusion transcripts. Unusually sized amplicons were confirmed by FISH and DNA sequencing to confirm atypical breakpoints. Amongst the paediatric B-ALL samples t(12;21), was detected in (?0%), t(9;22), was detected in (?%), t(1;19) was detected in (?%) and t(4;11) was detected in 2 cases. t(12;21) with intron 1of the AML1 gene was detected as the most common gene rearrangement in paediatric ALL, whereas one rare form of the TEL-AML1 breakpoint in which TEL is fused with intron 2 of AML1 was also observed. In the t(9;22) breakpoints e13a2, e14a2 and e1a2 were detected as the common breakpoints. Two atypical and rare breakpoint of t(9;22) were detected namely e6a2 and e13a3 in paediatric ALL. TEL-AML1 was found to be the most common translocation in Paediatric B-ALL. Identification of the rare breakpoints through RT-PCR technique requires designing of PCR in such a way that it can detect these rare breakpoints also. Keywords FISH PCR transcript B-ALL