Title |
Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis
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Published in |
Biomarker Research, August 2014
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DOI | 10.1186/2050-7771-2-14 |
Pubmed ID | |
Authors |
Jordi Martinez-Serra, Raquel del Campo, Antonio Gutierrez, Jose Luis Antich, Magdalena Ginard, Maria A Durán, Leyre Bento, Teresa Ros, Juan C Amat, Carmen Vidal, Julio F Iglesias, Izabela Orlinska, Joan Besalduch |
Abstract |
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 400 mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5 months transformed into lymphoid blast crisis. |
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