Genetic polymorphisms associated with childhood AML

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Published: 26 Sep 2016
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Dr Gisele Brisson - Instituto Nacional de Cancer, Rio de Janeiro, Brazil

Dr Brisson speaks with ecancertv at Childhood Cancer 2016 about polymorphisms in enzymes required for the benzene processing pathway resulting in variable susceptibility to acute myeloid leukaemia (AML).

She highlights NQO1 and GSTM1 polymorphisms were associated with increased risk to differing subtypes of childhood leukaemia.


Childhood Cancer 2016

Genetic polymorphisms associated with childhood AML

Dr Gisele Brisson - Instituto Nacional de Cancer, Rio de Janeiro, Brazil

This work is about genetic susceptibility in childhood acute myeloid leukaemia and it’s based on the fact that some environmental exposures were associated with childhood AML. We know that those environmental toxicants need to be metabolised by several enzymes in our body and those enzymes are polymorphic. Because of that we have different ways of metabolising those substances among the individuals which means that there are different genetic susceptibilities among individuals. So this work is based on this fact and so we chose some genetic polymorphisms that are in the benzene pathway because we know that benzene is carcinogenic to humans and causes AML and other haematological disorders so we chose to pick this pathway to study.

What did you find?

We found that EPHX1, NQ01 and GSTM1 polymorphisms were associated with childhood AML risk in our study, mainly with some specific AML subtypes which were CBF beta, MYH11 and APL, promyelocytic leukaemia, and also FLT3 mutations, AML with FLT3 mutations.

What conclusions can be drawn from this?

The conclusion is that genetic susceptibility plays an important role on AML’s risk in children in our population. This study is very important because there are very few studies about genetic susceptibility in AML, most are regarding ALL which is the most frequent subtype of leukaemia in children. So this is important because of the few information regarding this subject, AML. This is particularly useful for our population – the incidence rates of AML, of childhood AML, in Brazil are slightly higher than high income countries like the USA or the majority of countries here in Europe. So this genetic background could be one of the answers of why our incidence rates of AML are this different from other countries.