48-hour peripheral blood cell culture

New Сytogenetic Approaches in Patients with Primary Myelofibrosis

MYELOID TUMORS , ,

TL Gindina, NN Mamaev, VV Baikov, MV Barabanshchikova, EN Nikolaeva, IA Petrova, IS Moiseev, OV Pirogova, YuYu Vlasova, MO Ivanova, EV Morozova, SN Bondarenko, BV Afanas’ev

R.M. Gorbacheva Scientific Research Institute of Pediatric Hematology and Transplantation; Academician I.P. Pavlov First St. Petersburg State Medical University, 6/8 L’va Tolstogo str., Saint Petersburg, Russian Federation, 197022

For correspondence: Tat’yana Leonidovna Gindina, PhD, 6/8 L’va Tolstogo str., Saint Petersburg, Russian Federation, 197022; Tel.: + 7(812)233-12-43; e-mail: cytogenetics.bmt.lab@gmail.com

For citation: Gindina TL, Mamaev NN, Baikov VV, et al. New Сytogenetic Approaches in Patients with Primary Myelofibrosis. Clinical oncohematology. 2016;9(1):61–9 (In Russ).

DOI: 10.21320/2500-2139-2016-9-1-61-69

ABSTRACT

Aim. To evaluate the potential of a new cytogenetic technique in patients with primary myelofibrosis (PMF).

Materials and methods. 48-hour blood cell cultures (according to Singh et al., 2013) were used for cytogenetic study in 11 PMF patients (5 female, 6 men, aged 32–60 years; median 48.6 years). GTG-banding and different types of fluorescence in situ hybridization (FISH) techniques were used for identification of chromosomal aberrations.

Results. The incidence of abnormal karyotypes in blood cultures was significantly higher than that in standard bone marrow cultures (82 vs 27 %; p < 0.01). The polyploid clones were found in blood cultures of 45 % of patients. Structural chromosomal aberrations were found in chromosomes 6, 1, 3, as well as 16 and 17 (in 2 and 1 patients with each aberration, respectively). In all but one patients these abnormalities in diploid and polyploid metaphases were identical. Partial 1q trisomy resulted from adding of additional (1q21–1q44) material translocated to the short arm of chromosome 5 to the material of 2 normal homologue of chromosome 1. It seems that 1q+, i(17q) and some others chromosomal abnormalities were secondary, whereas 6p21 locus involvement may be a primary defect in PMF. The t(3;6)(q25;p21) translocation described for the first time and confirmed by FISH should be considered a variant of well-known translocation t(1;6). Allo-HSCT in 2 patients with 1q+ was successful, whereas there were problems with engraftment in a female patient with prognostically unfavorable t(3;3)(q21;q26) translocation associated with the EVI1 gene overexpression.

Conclusion. Cytogenetic examinations in blood cultures provide important additional information about PMF patients.

Keywords: primary myelofibrosis, 48-hour peripheral blood cell culture, cytogenetics.

Received: July 14, 2015

Accepted: November 1, 2015

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