Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib.
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.
Breccia
Massimo
M
Department of Cellular Biotechnology and Hematology, University La Sapienza, Rome, Italy. breccia@bce.uniroma1.it
Cannella
Laura
L
Diverio
Daniela
D
Streponi
Paola
P
Nanni
Mauro
M
Stefanizzi
Caterina
C
Natalino
Fiammetta
F
Mecarocci
Sergio
S
Alimena
Giuliana
G
D000328:Adult; D001549:Benzamides; D019457:Chromosome Breakage; D006801:Humans; D000068877:Imatinib Mesylate; D053614:Janus Kinase 2 / Q000235:genetics*; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D013922:Thrombocytosis / Q000175:diagnosis*; D016896:Treatment Outcome
D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; C507924:JAK2 protein, human; D053614:Janus Kinase 2