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Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib

✍ Scribed by Massimo Breccia; Laura Cannella; Daniela Diverio; Paola Streponi; Mauro Nanni; Caterina Stefanizzi; Fiammetta Natalino; Sergio Mecarocci; Giuliana Alimena


Book ID
104040466
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
91 KB
Volume
32
Category
Article
ISSN
0145-2126

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✦ Synopsis


Since very few unusual BCR/ABL fusion transcripts in chronic myeloid leukemia have been reported, no clear evidence exists concerning their clinical and prognostic implications. We describe here a CML case with normal karyotype at standard cytogenetics and an atypical e6a2 BCR/ABL fusion transcript, presenting at diagnosis isolated thrombocytosis and mild leukopenia; the patient, who was tested negative for JAK2 mutation, obtained a complete response to imatinib. The few previous observations from literature are also reviewed.