40 research outputs found
Progression of essential thrombocythemia to blastic crisis via idiopathic myelofibrosis.
We report a 61-year-old man with essential thrombocythemia (ET) whose clinical course was followed for 12 years. The ET evolved into true idiopathic myelofibrosis (IM) 6 years after the initial diagnosis and progressed to myeloid blastic transformation 6 years later. The cytogenetic analysis showed a normal karyotype during the ET phase but subsequent analysis revealed an abnormal karyotype during the IM phase which evolved clonally at blastic crisis with constant involvement of chromosome 13q and chromosome 7. The close monitoring of essential events, using clinical, morphologic, immunologic and cytogenetic parameters, allowed us to carefully identify the transition from one chronic myeloproliferative disease (MPD) to another. This is only the second case reported showing a clinical evolution of this nature. The clinical and biological aspects of the disease are briefly discussed
Valutazione della genotossicità dei Campi Magnetici a Frequenza Estremamente Bassa (ELF- MF) in lavoratori esposti per ragioni professionali [Evaluation of the genotoxicity of the extremely low frequency-magnetic fields (ELF-MF) in workers exposed for professional reasons]
Whether or not ELF-MF has genotoxic potential is a controversial issue. In the present study, we investigated the genotoxic effect using cytogenetic assays (CA - SCE - MN), in 109 workers exposed to ELF-MF. The mean value of occupational exposure in the whole group was 0.35 microT. According to the exposure level the workers were stratified in two different groups: low exposed (n. 39, TWA < or = 0.2 microT) and higher exposed (n. 70; TWA > 0.2 microT): the groups did not significantly differ for the examined variables. Due to these results we decided to re-evaluate the effect only considering the highest exposed workers: we selected 31 workers exposed to TWA levels exceeding 1 microT, and compared vs. the low exposed subjects: again, the difference in the groups examined were not significant. At multivariate regression analysis was also applied: no correlation was observed with cytogenetic biomarkers. The results of this study does not support the hypothesis of any direct genotoxic effect of ELF-MF, at least at the environmental levels currently found in an occupational settings
Nuclear protrusions and marker chromosomes in lymphocytes of two patients with cutaneous T-cell lymphoma.
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Alterazione della regione p22-p23 del cromosoma 6 associata a sindrome mieloproliferativa (MPS).
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YAC clone H10 discriminates between 3q26.2 and 3q27 chromosome rearrangements in hematological disorders.
To discriminate with molecular-cytogenetic resolution between 3q26.2 breakpoint, associated to various myeloproliferative disorders, and 3q27 breakpoint, recurrent in several types of non-Hodgkin lymphoma, we tested the feasibility of using a yeast artificial chromosome, YAC clone H10, mapped on 3q26.3. Fluorescent in situ hybridization of the biotinylated polymerase chain reaction product of the YAC H10 was performed in three myeloproliferative diseases and one follicular non-Hodgkin lymphoma carrying different rearrangements of chromosome 3 involving region q26-q27. Our study shows that YAC H10 signal was telomeric to all three myeloid breakpoints, while it was centromeric in the lymphoid one thus showing that this probe can discriminate between these two subsets of chromosome 3 rearrangements. These results point out the opportunity of using additional YACs in the characterization of polymorphic chromosome alterations acquired in neoplastic cells