Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.

In chronic myeloid leukemia (CML) patients, 3-month BCR-ABL1 levels have consistently been correlated with further outcomes. Monitoring molecular responses in CML using the GeneXpert (Cepheid) platform has shown an optimal correlation with standardized RQ-PCR (IS) when measuring BCR-ABL1 levels lower than 10%, as it is not accurate for values over 10%. The aim of the present study was to determine the predictive molecular value at three months on different outcome variables using the Xpert BCR-ABL1 MonitorTM assay (Xpert BCR-ABL1). We monitored 125 newly diagnosed consecutive CML patients in the chronic phase (CML-CP) using an automated method: Xpert BCR-ABL1. Only 5% of patients did not achieve an optimal response at 3 months, and the 10% BCR-ABL1 cutoff defined by RQ-PCR (IS) methods was unable to identify significant differences in the probabilities of achieving a complete cytogenetic response (CCyR) (50% vs. 87%, p = 0.1) or a major molecular response (MMR) (60% vs. 80%, p = 0.29) by 12 months. In contrast, a cutoff of 1.5% more accurately identified differences in the probabilities of achieving CCyR (98% vs. 54%, p<0.001) and MMR (88% vs. 56%, p<0.001) by 12 months, as well as probabilities of treatment changes (p = 0.005). Therefore, when using the Xpert BCR-ABL1 assay, a cutoff of 1.5% at 3 months could with high probability identify patients able to achieve an optimal response at 12 months.

An 80-year-old woman presented with asthenia of several weeks duration. She had been diagnosed with Gaucher disease 34 years earlier (N370S/N370S genotype, acid beta-glucosidase activity 18%, serum chitotriosidase levels: 1557 nmol/ml/h). She had been asymptomatic since then, with only mild splenomegaly, and no treatment had been required. A full blood count showed macrocytic anaemia (haemoglobin concentration (Hb) 109 g/l, MCV 122 fl) and a platelet count of 122 9 10 9 /l. Serum vitamin B 12 was reduced (112 pg/ml) and vitamin B 12 therapy was therefore initiated. In spite of the normalization of platelet count and vitamin B 12 levels, her Hb decreased and several red blood cell transfusions were needed.A bone marrow aspiration and trephine biopsy were therefore performed. A May-Gr€ unwald-Giemsa stain revealed numerous Gaucher cells and megakaryocytes with hypolobated nuclei (images). No other dysplastic features were found. Karyotype showed deletion of 5q in one out of 21 metaphases, and fluorescent in situ hybridization (FISH) for 5q

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