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Leukemia (2000) 14, 18571860

syndromes with t(3;12)(q26;p13) and expression of EVI1TO THE EDITORCase 1: A 70-year-old male patient with an unremarkable medical

history was admitted to the hospital with general malaise and an

increased leucocyte count of 19.7 109/1 with a normal differential

count. On examination no abnormalities were noted except for a mild

splenomegaly. The haemoglobin concentration (Hb) was 12.7 g/dl (n:14.017.1) with a platelet count of 450 109/1 (n: 150350) with

aggregates. The blood chemical findings were normal except for an

increased level of lactate dehydrogenase of 415 U/l (n:114235 U/l).

A cytological bone marrow examination showed increased cellularity

mainly due to increased myelopoiesis and megakaryopoiesis with

only minor dysplastic features. Cytogenetic analysis showed a normal

male karyotype. By multiplex and nested polymerase chain reaction

(PCR) no bcr-abl fusion could be detected. A myeloproliferative syndrome without a specific classification was diagnosed. He was doing

well for 2 years until a further increase in leucocyte count of 24.3

109/1 with 1.7 109/1 monocytes and a severe anemia (Hb 7.4 g/dl)

developed with a platelet count of 212 109/1 and persistence of

aggregation. By cytologic examination of the bone marrow an

increase in cellularity was noted with 8% blasts and dysplastic features in all lineages with a prominent increase in megakaryocytes with

apparent immature forms. In the peroxidase and Sudan Black staining

20% of the blasts stained positive with sporadic auer rods. Cytogenetic

analysis showed a 46,XY,t(3;12)(q26;p13)[19]/46,XY[3]. A chronic

myelomonocytic leukemia according to FAB classification

(International Prognostic Score System: IPSS at diagnosis of 1.0; intermediate risk 1) with progression to RAEB-t with a unique t(3;12) was

diagnosed. Hydroxyurea was started with only minor response. Splenectomy followed. He died of a cardiac event 18 months after the start

of treatment.Case 2: A 46-year-old woman with an unremarkable medical history was admitted to the hospital with bruising. On examination no

abnormalities could be found except for some ecchymoses on her

legs. Laboratory values revealed an Hb of 9.7 g/dl (n: 12.116.0), a

leucocyte count of 4.5 109/1 with 35% granulocytes, 46% lymphocytes, 7% monocytes, 10% bands, 1% metamyelocytes and 1% blasts.

The platelet count was 36 109/1 with several giant...

Breakpoint analysis by fluorescence in situ hybridization in myelodysplastic syndromes with t(3;12)(q26;p13) and expression of EVI1