Trisomy 14, deletion 20q and t(3;3) (q21;q26) in a case of myelodysplastic syndrome with myelofibrosis.
We describe a patient with trilineage myelodysplasia and hyperplastic megakaryopoiesis associated with significant myelofibrosis at diagnosis, who developed acute myeloid leukaemia two months afterwards. The clinical and pathological features were consistent with a myelodysplasia/myelofibrosis syndrome with leukemic transformation. Cytogenetic investigation showed trisomy 14, del(20q) and t(3;3) (q21;q26). These findings are of possible significance in the understanding of the association between myelodysplasia and myelofibrosis.
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Y L
YL
Kwong
T S
TS
Wan
R
R
Liang
L C
LC
Chan
D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002890:Chromosomes, Human, Pair 20; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy