Volumen: 19 # Number : 3
Publication Date : Septiembre - Diciembre Year: 2015
Duplication in exon 2 of the ABL1 gene
in a patient diagnosed with philadelphia negative
cronic myeloid leukaemia
Authors: Paladino MI, Alonso MB, Alonso CN, Rubio PL,
Alonso LM, Verón DA, Riccheri C.
Abstract: The Chronic myeloid leukemia is characterized by
the presence of t(9;22)(q34;q11), which generates the
BCR-ABL1 fusion transcript and the corresponding
protein. This event encodes for a deregulated form
of ABL1 that arises as a target for inhibiting drugs.
The BCR-ABL1 detection by RT-PCR is needed to
document the diagnosis and to monitor the response
to treatment. RT-PCR detection of a constitutive
gene transcript such us ABL1 is necessary to prevent
false negative results. We present the case of a patient
with signs and symptoms compatible with chronic
myeloid leukemia in blast crisis in the absence of
the BCR-ABL1 fusion transcript with a peculiar
ABL1 gene alteration that could play a leading role
in the development of the disease.
Key words: chronic myeloid leukemia,
Philadelphia negative,
ABL1 gene alterations,
molecular techniques.
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