Paediatric acute myeloid leukaemia with the t7;12q36;p13 rearrangement: a review of the biological and clinical management aspectsReportar como inadecuado

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Biomarker Research

, 3:21

First Online: 05 October 2015Received: 19 May 2015Accepted: 25 June 2015DOI: 10.1186-s40364-015-0041-4

Cite this article as: Tosi, S., Mostafa Kamel, Y., Owoka, T. et al. Biomark Res 2015 3: 21. doi:10.1186-s40364-015-0041-4


The presence of chromosomal abnormalities is one of the most important criteria for leukaemia diagnosis and management. Infant leukaemia is a rare disease that affects children in their first year of life. It has been estimated that approximately one third of infants with acute myeloid leukaemia harbour the t7;12q36;p13 rearrangement in their leukaemic blasts. However, the WHO classification of acute myeloid leukaemia does not yet include the t7;12 as a separate entity among the different genetic subtypes, although the presence of this chromosomal abnormality has been associated with an extremely poor clinical outcome. Currently, there is no consensus treatment for t7;12 leukaemia patients. However, with the inferior outcome with the standard induction therapy, stem cell transplantation may offer a better chance for disease control. A better insight into the chromosome biology of this entity might shed some light into the pathogenic mechanisms arising from this chromosomal translocation, that at present are not fully understood. Further work is needed to improve our understanding of the molecular and genetic basis of this disorder. This will hopefully open some grounds for possible tailored treatment for this subset of very young patients with inferior disease outcome. This review aims at highlighting the cytogenetic features that characterise the t7;12 leukaemias for a better detection of the abnormality in the diagnostic setting. We also review treatment and clinical outcome in the cases reported to date.

KeywordsAcute myeloid leukaemia Paediatric leukaemia t7;12 translocation Chromosomal abnormalities HLXB9 gene Clinical outcome  Download fulltext PDF

Autor: Sabrina Tosi - Yasser Mostafa Kamel - Temitayo Owoka - Concetta Federico - Tony H. Truong - Salvatore Saccone


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