Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder.

Tyrosine kinases activated by mutation or translocation are involved in the chronic phase of myeloproliferative disorders. Complementary or alternative events are not so well characterized. We report here a case of t(8;13) generating a ZNF198-FGFR1 fusion kinase gene on the derivative chromosome 13.

Identification of TCL1A as an immunohistochemical marker of adverse outcome in diffuse large B-cell lymphomas.

We used a combination of DNA-microarray and tissue-microarray (TMA) analyses to identify markers that could be routinely used to predict the outcome of diffuse large-B-cell lymphoma (DLCL) patients. Gene expression profiling was performed using DNA-microarrays on 52 tumour biopsy samples [31 DLCL and 21 follicular lymphomas (FL)] from 48 patients (28 DLCL and 20 FL). T-cell leukemia/lymphoma-1A (TCL1A) mRNA overexpression was correlated with relapse in DLCL patients.

Identification of new classes among acute myelogenous leukaemias with normal karyotype using gene expression profiling.

Conventional cytogenetic analysis currently stratifies acute myelogenous leukaemia (AML) into prognostically relevant groups. However, approximately 50% of adult AMLs have normal cytogenetics (NC-AMLs), and represent a heterogeneous and poorly understood group. We analysed gene expression in 55 AML samples including 53 cases from adult patients with NC-AML (n = 36), trisomy 8, t(15;17), t(8;21), t(11;19), 7q deletion, and two cell lines using 9000-gene DNA microarrays.

Variant MYST4-CBP gene fusion in a t(10;16) acute myeloid leukaemia.

We report a novel fusion of the MYST4 and CBP genes in an acute myeloid leukaemia (AML)-M4 patient exhibiting t(10;16)(q22;p13) and t(11;17)(q23;q21). The t(10;16)(q22;p13) resulted in a rearrangement, where MYST4-CBP and CBP-MYST4 chimaeric transcripts were products of in-frame fusions of MYST4 exon 17 to CBP exon 6 and CBP exon 4 to MYST4 exon 18 respectively. The potential resulting chimaeric proteins showed similarities with MYST3-CBP, MYST3-P300 and MYST3-NCOA2 putative fusion proteins found in other cases of AML.

Constitutive nuclear localization and initial cytoplasmic apoptotic activation of endogenous caspase-3 evidenced by confocal microscopy.

The localization of caspases and their substrates in different cellular compartments may be one way to regulate apoptosis. Caspase-3-dependent proteolysis of inhibitor caspase-activated deoxyribonuclease (ICAD) activates caspase-activated deoxyribonuclease (CAD), which induces apoptotic internucleosomal DNA degradation. The nuclear localization of ICAD, pro- and active-caspase-3 molecules remains a controversial issue.