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Emergence of additional cytogenetic clones in chronic myelocytic leukemia (CML) patients who become Philadelphia chromosome–negative (Ph−) after α-interferon therapy (or more recently with imatinib mesylate) have been described. We report here a case of a novel t(6;7)(p21;q23) that developed in a CML patient in complete cytogenetic remission during imatinib therapy. In this case, fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction showed a normal pattern for BCR and ABL genes, suggesting that a different and unrelated clone developed after the disappearance of the Ph chromosome.

Although trisomy 13 has been reported as a recurring abnormality in acute myelocytic leukemia [1], it has been rarely described in other hematological diseases, particularly in chronic myeloproliferative disorders. We report here a case of a 79-year-old male patient with idiopathic myelofibrosis showing a trisomy 13 at cytogenetic analysis upon diagnosis. The patient was referred to our division because of leukocytosis, anemia, and thrombocytopenia. Physical examination showed marked hepatomegaly and splenomegaly. A peripheral blood sample showed hemoglobin 9.6 g/dL, platelets 50 × 10/L, and white blood cells 60 × 10/L with 60% neutrophils, 10% lymphocytes, 20% myelocytes, 5% metamyelocytes, 5% monocytes, and rare erythroblasts. Poikilocytosis with dacryocytes was observed. Analysis of bone marrow biopsy showed hypercellularity and was consistent with a diagnosis of idiopathic myelofibrosis in the cellular phase. Cytogenetic analysis was performed with a Wright–Giemsa banding technique on a bone marrow aspirate. We examined metaphase cells from shortterm unstimulated cultures at 37 C in RPMI-1640 medium, supplemented with 10% fetal calf serum. Chromosomal abnormalities were described according to ISCN 1995 [2]. The karyotype showed 47,XY, 13[19]/46,XY[1]. As of writing, the patient was in good clinical condition, after being treated with hydroxyurea 1 g/d with stable disease at 6 months follow-up. Trisomy 13 is associated predominantly with undifferentiated acute myelocytic leukemia (AML, M0), but a few cases of myelodysplastic syndrome have been reported [3], with a highly variable prognosis: 4 months to 10 years of survival. Trisomy 13 affects predominantly older men and there is a possible association with previous chemoradiotherapy. No

Recurring chromosomal abnormalities such as der(22), 8, i(17q), and 19 (i.e., karyotype evolution) have been described during the accelerated and/or blastic phase of chronic myelocytic leukemia (CML-BP). Deletion of the long arm of chromosome 20 is a recurring abnormality in clonal myeloid disorders, which are found in approximately 10%–30% of polycythemia vera patients and 5% of myelodysplastic syndrome (MDS) patients, and is only rarely reported in acute myelocytic leukemias (AMLs) [1] and not described in CML. We report here a case of involvement of chromosomes 20 and 21 in a 45-year-old male patient with CML that progressed to a blastic phase after 9 months of treatment with interferon-α plus oral cytosine arabinoside. A peripheral blood cell count showed the following: white blood cells, 2.4 × 10/L; hemoglobin, 10.5 g/dL; platelets, 74. × 10/L. Bone marrow cells from unstimulated 24to 48-hour cultures in

Whereas hyperdiploidy is a frequent cytogenetic abnormality in acute lymphoblastic leukemia, tetraploidy is rarely observed in acute myeloblastic leukemia (AML), in which gains and losses of whole chromosomes do occur frequently [1–4]. A 76-year-old man was admitted to our division with dyspnea and weakness. Peripheral blood cell analysis showed white blood cell count 29.6 × 10/mL with 90% blast cells, hemoglobin 9.4 g/dL, and platelets 55 × 10/mL. Physical examination findings were normal, except for liver enlargement. Bone marrow examination confirmed a diagnosis of AML M5a with 90% blast cells. Leukemic cells