Translocation t(5;18)(q35;q21) as a rare nonrandom abnormality in acute myeloid leukemia.

Cytogenetic abnormalities play an important role in diagnosis, classification and prognosis in acute myeloid leukemia (AML). Nevertheless, several chromosome abnormalities have not been completely determined, and their prognostic significance is currently unknown due to their low incidence and the sporadic limited data. We report a case of AML-M2 with a novel, nonrandom translocation t(5;18)(q35;q21) in order to clarify the clinical features and outcome of these patients which could be advisable for prognostic and therapeutic purposes. This translocation has been reported only once in AML. Our patient received intensive chemotherapy, but he achieved a complete remission only initially. Eighteen months post diagnosis, t(3;12)(p23;p13) was detected as a secondary abnormality to t(5;18)(q35;q21) in the progression of the disease. FISH studies confirmed the reciprocal t(5;18)(q35;q21) and demonstrated a rearrangement of ETV6 gene as a consequence of t(3;12)(p23;p13). The patient died a few days later. In conclusion, t(5;18)(q35;q21) is a rare but nonrandom abnormality in AML, found in FAB M2 subtype, possibly associated with a rather poor prognosis, while t(3;12)(p23;p13) seems to contribute to the progression of the disease. The publication of rare, nonrandom chromosome abnormalities such as t(5;18)(q35;q21) contribute to the identification of the whole spectrum of cytogenetic abnormalities in AML and their prognostic significance.

Glutathione-S-transferase T1 and M1 gene polymorphisms in Greek patients with multiple sclerosis: a pilot study.

Oxidative stress has been implicated in the pathogenesis of multiple sclerosis (MS). Glutathione-S-transferases (GSTs) are detoxification enzymes, evolved to protect cells against reactive oxygen metabolites. Both GSTT1 and GSTM1 genes exhibit a homozygous deletion polymorphism (null genotype) leading to abolished enzyme activity. We studied the impact of the GSTT1 and GSTM1 polymorphisms on MS susceptibility in a case-control study of 47 Greek patients and 165 controls. Correlations between genotype, gender and disability status were also investigated. The incidence of both GSTT1 and GSTM1 genotypes did not differ significantly between controls and patients. A significantly increased frequency of GSTM1 null genotype was found amongst female patients (65.5%) as compared with males (33.3%, P =0.04). The results suggest that GSTT1 and GSTM1 have no major pathogenetic role on the MS occurrence, nor any strong modifying effect on the disability status. The higher incidence of GSTM1 null genotype observed in female patients, suggests a possible role of the GSTM1 detoxification pathway in a gender-dependent manner.

Constitutional pericentric inversion of chromosome 9 and hematopoietic recovery after allogeneic stem cell transplantation.

Recent reports suggest that hemopoietic stem cells with constitutional pericentric inversion of chromosome 9 [inv(9)] may be related to delayed engraftment or hemopoietic defect after stem cell transplantation (SCT). We conducted a retrospective study on five allogeneic SCT in which constitutional inv(9) was detected either in the donor or the recipient. The results showed that hematologic recovery was within the expected time range for all our patients. However, one patient exhibited decreasing blood counts between day +45 and +272 after transplantation, possibly due to protracted cytomegalovirus (CMV) infection and gansiclovir and imatinib treatment. Our findings suggest that constitutional inv(9) may not be associated with delayed hemopoietic recovery after SCT.

Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays.

PURPOSE: To investigate whether amifostine is effective at reducing the yield of chromatid breaks when present during G(2)-phase irradiation of human normal cells and cells from cancer prone patients, as well as to study the mechanisms underlying the radioprotective effect of amifostine. MATERIALS AND METHODS: G(2) chromosomal radiosensitivity in the presence or absence of amifostine was studied in healthy donors, cancer patients, ataxia-telangietasia (A-T) patients and five human lymphoblastoid cell lines with genes predisposing to cancer. The yield of chromatid breaks following gamma-irradiation in G(2) phase was obtained at the subsequent metaphase using the G(2) assay. For scoring chromatid damage directly in G(2) or G(0) phase, premature chromosome condensation was used. RESULTS: When amifostine was present during irradiation, the mean yield of radiation-induced chromatid breaks as visualized by the G(2) assay was significantly reduced in healthy donors (t-test, p=0.001), in cells from cancer patients (p=0.001) and in cell lines from patients with genes predisposing to cancer (p=0.01) except ATM(-/-) (0.1