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oai:repisalud.isciii.es:20.500.12105/199522024-07-03T11:01:15Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Martinez-Serra, Jordi author del Campo Garcia, Raquel author Gutierrez, Antonio author Antich, Jose Luis author Ginard, Magdalena author Duran Pastor, Maria Antonia author Bento, Leyre author Ros, Teresa author Amat, Juan C author Vidal, Carmen author Iglesias, Julio F author Orlinska, Izabela author Besalduch Vidal, Juan author 2014 Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph'). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively. The e1a3 CML-related atypical translocation has been reported with an indolent clinical course, low leukocyte count, long chronic phase even without treatment and good response to therapy. We report the case of a patient initially diagnosed as CML in chronic phase whose cells expressed the e1a3 variant. The patient readily responded to imatinib 400mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5months transformed into lymphoid blast crisis. Martinez-Serra J, Del Campo R, Gutierrez A, Antich JL, Ginard M, Duran MA, et al. Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis.. Biomark Res. 2014;2:14. 10.1186/2050-7771-2-14 2050-7771 Biomarker Research http://hdl.handle.net/20.500.13003/17107 25197554 L603849551 2-s2.0-85006228432 http://hdl.handle.net/20.500.12105/19952 ALL CML bcr-abl e1a3 Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis.