SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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P Fernandez1 , B Röthlisberger2 , I Heijnen2 , M Jotterand3 , D Mühlematter3 , A Huber2 , M Bargetzi1

1Blutspendedienst, Kantonsspital Aarau, 2Zentrum für Labormedizin, Kantonsspital Aarau, 3Unité de Cytogénétique du Cancer, Service de génétique médicale, CHUV, Lausanne, 4Zentrum für Onkologie/Hämatologie, Kantonsspital Aarau

Structural rearrangements implicating the region 3q26 have been described in 2% of the patients with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) or chronic myeloid leukemia in blast crisis. These rearrangements are frequently associated with trilineage myelodysplasia, especially dysmegakaryocytosis, and with a particularly poor prognosis. On the molecular level it was shown that inv(3)(q21q26)and t(3;3)(q21;q26), the most frequent alterations with breakpoints in 3q26 (3q21q26 syndrome) involve the oncogene EVI1 which is inappropriately overexpressed.

So far, the translocation t(3;8)(q26;q24) has been reported in 3 patients with MDS (1case) or acute myeloid leukemia AML (2 cases) without further molecular analysis. No other recurrent chromosome aberration with breakpoint in 8q24 has been shown in AML.

We report a case of a 58 year old male patient with a multilineage AML showing a t(3;8)(q26;q24) occurring as a single defect in 80% of bone marrow cells investigated by conventional cytogenetics. The bone marrow aspirate was normocellular, with 25-50% atypical blasts, dyserythropoiesis, dysplastic myelopoiesis and hyperactivated megakaryopoiesis with many micromegakaryocytes. FACS-analysis of the blast showed two cell populations, one with a immunophenotype of CD45+(dim), CD13+, CD14-, CD15-, CD33+, CD34+, CD117+ and MPO- , the other with CD13+, CD14+, CD33+, CD64+, CD34+(dim) and CD117+. After two cycles of chemotherapy pancytopenia persisted and 4 month later relapse was evident. By real time quantitative RT-PCR (RQ-PCR) we showed that EVI1 is highly overexpressed (>100:1) in this patients bone marrow cells as compared with an AML patient without 3q26 involvement. We intend to perform additional investigations to further characterize the breakpoints in 8q24 and 3q26 by Fluoresence-in-situ Hybridization (FISH) and by molecular methods.

The chromosomal translocation t(3;8)(q26;q24) leads to overexpression of EVI1 and, as in other aberrations involving 3q, shows a poor prognosis in AML.


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