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Biomedical subjects

Petr Sedlácek

Publications and source records attributed to Petr Sedlácek.

4 recordsLinked to original sources

Molecular monitoring of responses to DLI and DLI + IFN treatment of post-SCT relapses in patients with CML.

We monitored DLI treatment of 13 post-SCT relapses using quantitative competitive (QC) RT-PCR for BCR-ABL (sensitivity 10(-5)) and compared responses to DLI alone and DLI in combination with interferon-alpha (IFN). Ten relapses (one blast crisis, five cytogenetic and four molecular) were treated with DLI+IFN, three relapses (one cytogenetic, two molecular) were treated with DLI alone. Except the patient treated in blast crisis, who died, all the patients treated with DLI+IFN achieved complete molecular remission, with the median time interval of 3.9 months (range 0.25-10.5 months). None of the three patients treated with DLI alone have achieved complete molecular remission up to now, i.e. 32, 45, and 50 months after DLI. However, in all of them some decrease of BCR-ABL transcript level was detected. Although the retrospective analyses did not confirm that IFN improved the response to DLI, our results based on sensitive molecular monitoring suggest that DLI effect, at least in some patients, is supported by IFN administration.

Adolescent↗

Development of common variable immunodeficiency in a patient with Evans syndrome treated by autologous stem cell transplantation.

We describe a case report of a patient who developed common variable immunodeficiency (CVID) after autologous haematopoietic stem cell transplantation (SCT) for recurrent Evans syndrome. The disease manifested as attacks of haemolytic anaemia, thrombocytopenia and neutropenia from the age of 12 years. Presence of autoantibodies to blood elements was confirmed together with C4 deficiency. The patient also suffered from dermatitis herpetiformis Duhring without signs of coeliac disease. Autologous T cell-depleted peripheral blood stem cell (PBSC) transplant following conditioning regimen was performed at the age of 20 years. Immunological reconstitution was incomplete and 2 years after SCT he fulfilled laboratory criteria for common variable immunodeficiency (CVID). The patient was found to be a carrier of a risk haplotype for development of CVID DRB1*03/DQB1*0201. We conclude that T cell-depleted SCT here performed for autoimmune manifestations can hasten development of CVID in genetically predisposed patients.

Anemia, Hemolytic, Autoimmune↗

Microsatellite instability in hematological malignancies.

The replication error (RER+) phenotype, characterized by microsatellite instability (MSI) has been recently related to mutations of genes involved in DNA mismatch repair pathway. These genetic alterations were first described in hereditary non polyposis colorectal cancer (HNPCC). We examined 44 patients with hematological malignancies (27 AML, 9 MDS, 2 CML-BP and 6 T-ALL) for evidence of MSI. Twenty seven percent of our patients showed differences for only one marker. In four cases (9.1%) MSI was observed in multiple markers and these cases were described as RER+ phenotype. Presented data suggest that this phenomenon may play a role in at least a subset of patients with hematological malignancies.

Adolescent↗