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- Title
CONVENTIONAL AND MOLECULAR DIAGNOSTICS OF MYELOPROLIFERATIVE NEOPLASMS AND ACUTE MYELOID LEUKEMIA – EXPERIENCE OF CLINIC OF HEMATOLOGY UKCS.
- Authors
Vesna, Đorđević; Jelica, Jovanović; Sandra, Bižić Radulović
- Abstract
Myeloproliferative neoplasms (MPN) are a heterogeneous group of clonal disorders of hematopoietic stem cells, characterized by increased proliferation of one or more cell lines of the myeloid lineage in the bone marrow. The classification of MPN includes four subgroups of the disease: Philadelphia positive (Ph+) MPN or chronic myeloid leukemia (CML); classic Philadelphia negative (Ph-) MPN (polycythemia vera (PV), essential thrombocytosis (ET) and primary myelofibrosis (PMF)); non-classic Ph- MPN (chronic neutrophilic leukemia (CNL) and chronic eosinophilic leukemia (HEL); unclassified MPN. The cytogenetic marker for CML is a Ph chromosome and the molecular marker is a BCR/ABL fusion gene. At the Clinic of Hematology of the University Clinical Center of Serbia (CH UCCS), a Ph chromosome is detected by a conventional cytogenetic analysis of the cells from bone marrow aspirate. Detection of BCR/ABL gene is performed by molecular cytogenetic analysis, fluorescent in situ hybridization (FISH) and molecular genetic analysis, reverse transcription and polymerase chain reaction (RT-PCR). Detection of minimal residual disease, residual BCR/ABL, is performed by Real Time PCR and RQ-PCR analysis. Molecular markers for classical Ph- MPN are the “driver“ mutations in JAK2, MPL and CALR genes. At the CH UCCS the analyses applied for diagnosis of classical Ph-MPN (PV, ET, PMF) are: conventional cytogenetics and Real Time PCR (detection of the “point” mutation V617F in JAK2 gene). Acute myeloid leukemia (AML), a disease of the myeloid lineage stem cells, is caused by gene alterations that lead to neoplastic changes and clonal proliferation of bone marrow cells. Genes and mutations responsible for developing of AML are classified into three classes: class I (proliferative advance genes): FLT3, KIT, RAS, PTNPN11, JAK2; class II (genes responsible for blocking differentiation and apoptosis): PML/RARA, RUNX1/RUNX1T1, CBFB/MYH11, MLL, CEBPA, NPM1; class II (epigenetic modification genes): DNMT3, TET2, IDH1, IDH2, ASXL1. At the CH UCCS classical cytogenetics and RT-PCR analysis are used for detecting reccurent chromosomal and genes aberrations for AML:t(15;17)- PML/RARA; t(8;21)- RUNX1/RUNX1T1; inv(16)/t(16;16)-CBFB/MYH11. Rearrangements of MLL genes are detected by FISH analysis. PCR and RFLP (Restriction Fragment Length Polymorphism) analyses are used for detecting FLT3-ITD and FLT3-TKD (D835) mutations. A Real Time PCR analysis is applied for detecting mutations in the NPM1 gene.
- Subjects
PHILADELPHIA (Pa.); MYELOPROLIFERATIVE neoplasms; ACUTE myeloid leukemia; REVERSE transcriptase polymerase chain reaction; MOLECULAR diagnosis; RESTRICTION fragment length polymorphisms
- Publication
Genetics & Applications, 2024, p8
- ISSN
2566-2937
- Publication type
Article