+ Essential thrombocythaemia diagnosed in 2000 with normal karyotype and treated from 2003 to 2010 with low doses of Myleran

-

-

78 yrs

F

-

-

-

-

5,4

11,6

504

0

0 Aspirate and trephine biopsy showed global hypercellulary with marked increased number of megakaryocytes of large size and with hyperlobulated nuclei, no increase in reticulin fibrosis nor in blast cells.

Essential thrombocythaemia

Essential thrombocythaemia with JAK2 V617F mutation

07-2011

no

-

-

-

A

10-2011

3

Bone marrow

24 and 48 hours without stimulating agents

GTG

46,XX,+15,dic(1;15)(p11;p11)[10]/46,XX[10]

not done

PCR

JAK2 V617F mutation

This is a new case of myeloproliferative neoplasm with dic(1;15). Although the histological bone marrow findings were compatible with essential thrombocythaemia and no other morphological aspects were suggestive of myelodysplastic syndrome, we could not rule out the potential impact of the previous treatment with Myleran in the genesis of the chromosomal abnormality. To our knowledge, there are 13 cases of dic(1;15) described in myeloid disorders: 7 in myeloprofiferative neoplasms (polycythaemia vera, essential thrombocythaemia and atypical myeloproliferative disorder), 4 in myelodysplastic syndromes and 2 in acute myeloid leukemia. Four of these cases were described by Theisen et al. in this cytogenetic atlas. In 3 of them, the survival was superior to 10 years and in only one case the death was related to disease progression.