Germline mutations among Polish patients with acute myeloid leukemia.

Background: A small but important proportion of patients (4-10 %) with AML have germline mutations. They can cause the development of AML at an earlier age, confer a higher risk of relapse or predispose to secondary leukemias, including therapy-related leukemias. The analysis of germline mutations in a patient and his/her family is also critical for the selection of suitable family donors if the patient is a candidate for hematopoietic stem cell transplantation (HSCT).

Searching for germline mutations in the gene among Polish patients with acute myeloid leukemia.

The aim of the study was the identification of constitutional mutations among AML patients. The study group included 100 patients of Polish origin, diagnosed with AML. 14 out of 100 AML patients had together 17 mutations, three of which were found to be germline changes.

Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia.

T-cell acute lymphoblastic leukemia (T-ALL) is a highly heterogeneous disease, and numerous genetic aberrations in the leukemic genome are responsible for the biological and clinical differences among particular ALL subtypes. However, there is limited knowledge regarding the association of whole-genome copy number abnormalities (CNAs) in childhood T-ALL with the course of leukemia and its outcome. The aim of this study was to identify the pattern of whole-genome CNAs in 86 newly diagnosed childhood T-ALL cases using a high-density single-nucleotide polymorphism array.

Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML.

CHEK2 plays a key role in cellular response to DNA damage, and also in regulation of mitosis and maintenance of chromosomal stability. In patients newly diagnosed with myelodysplastic syndrome (MDS, n = 107) or acute myeloid leukemia (AML, n = 117) congenital CHEK2 mutations (c.444 + 1G > A, c.

Concomitance of monosomal karyotype with at least 5 chromosomal abnormalities is associated with dismal treatment outcome of AML patients with complex karyotype - retrospective analysis of Polish Adult Leukemia Group (PALG).

Monosomal karyotype (MK) and complex karyotype (CK) are poor prognostic factors in acute myeloid leukemia (AML). A comprehensive analysis of cytogenetic and clinical factors influencing an outcome of AML-CK was performed. The impact of cladribine containing induction on treatment results was also evaluated.

[The hematological malignancies related to primary hypereosinophilia and their diagnostics].

Published in 2008, by experts of the World Health Organization, the new classification of hematological malignancies forced a change of look at chromosomal aberrations and gene mutations, which are important in establishing the diagnosis and prognosis for patients with these malignancies. The new classification includes a new category of neoplasms - hematological malignancies with hypereosinophilia. Due to the high diversity of causes of hypereosinophilia and underlying genetic changes, their differential diagnosis is based on classical cytogenetics, fluorescence in situ hybridization (FISH) and genetic molecular techniques.

Usefulness of classic cytogenetic testing compared to fluorescence in situ hybridization in genetic diagnosis of 58 patients with myelodysplastic syndromes.

Introduction: Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal diseases of pluripotent hematopoietic stem or progenitor cells. MDS are characterized by ineffective hematopoiesis, increased apoptosis, peripheral blood cytopenias, and propensity to evolve into acute myelogenous leukemia.

Objectives: The aim of our investigation was to compare the usefulness of classic cytogenetics and fluorescence in situ hybridization (FISH) to detect chromosome aberrations in myelodysplastic syndromes.

[Microtia: isolated defect of hearing organ, or syndrome forming collection of abnormalities].

Congenital malformations of the external ear are relatively rare, however gradual increase in their frequency has been observed in the last years. These defects can occur as isolated congenital malformations, but they can coexist with congenital malformations of facial skeleton and also with congenital defects of distant organs. The purpose of this study was to determine coexisting facial skeleton defects and congenital defects of distant organs in a group of patients with unilateral or bilateral congenital malformations of the external ear.

The application of conventional cytogenetics, FISH, and RT-PCR to detect genetic changes in 70 children with ALL.

We investigated bone marrow cells of 70 acute lymphoblastic leukemia children by conventional cytogenetics (CC), fluorescence in situ hybridization (FISH), and reverse transcription polymerase chain reaction (RT-PCR) methods. CC and RT-PCR for fusion genes BCR/ABL, MLL/AF4, E2A/PBX1, TEL/AML1 were performed at diagnosis in each patient. FISH was performed to verify the presence of fusion genes and MLL rearrangements and to estimate the percentage of abnormal cells.

[The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility].

Unlabelled: The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.

Objectives: Analysis of genetic background of primary sterility in 35 infertile couples.