Onkologie. 2012:6(3):152-158

Cytogenetics and molecular cytogenetics in diagnosis and prognosis of myeloproliferative neoplasms

Marie Jarošová, Milena Holzerová, Radka Nedomová, Pavla Mičková, Antonín Hluší, Karel Indrák

Hemato-onkologická klinika FN a LF UP Olomouc, Česká republika

Myeloproliferative neoplasias (MPNs) are a group of hematopoietic stem cell clonal diseases with phenotypic changes resulting from

increased myeloid proliferation with preserved maturation and accumulation of myeloid cells in peripheral blood: leukocytosis, thrombocytosis

and increased red blood cell count or their various combinations. Cytogenetic analyses revealed recurrent chromosomal

aberrations in 5–45 % of patients, but so far, a specific chromosomal change has not been found. Frequent chromosomal aberrations

observed in MNPs mainly include losses of genetic material such as deletions of the long arms of chromosome 20 (20q-), long arms of

chromosome 13 (13q-) and deletions of the short arms of chromosome 12 (12p-). Gains of genetic material are particularly in the form of

trisomies of chromosomes 8 (+8) and 9 (+9) and partial duplications of the long arms of chromosome 1 (1q+). Other observed changes are

balanced translocations, such as those of chromosome 8 with various chromosomal partners. These findings are referred to as the 8p11

myeloproliferative syndrome (EMS), always involving the FGFR1 gene. Cytogenetic analyses supplemented with molecular cytogenetic and

genetic methods play supplementary role in the diagnosis of MPNs but are also contributory prognostic determinants. Recognition of the

FIP1L1/PDGFRA rearrangement in patients with NPM with eosinophilia enables initiation of targeted therapy with imatinib, significantly

improving their prognosis. Accurate determination of genetic aberrations enables understanding of the molecular etiopathogenesis of

MPNs and contributes to more accurate classification and more individual therapy of patients.

Keywords: myeloproliferative neoplasias, chromosome changes, cytogenetics, FISH, trisomy.

Published: July 31, 2012  Show citation