Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience

Abstract Background/Aim. Primary myelofibrosis (PMF) is a chronic, malignant hematological disease characterized by a leucoerythroblastic blood picture, anisopoikilocytosis teardrop- shaped erythrocytes, different degrees of bone marrow fibrosis and hepatosplenomegaly due to extramedullary hematopoi...

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Main Authors: Đorđević Vesna, Denčić-Fekete Marija, Jovanović Jelica, Soldatović Ivan, Janković Gradimir, Bogdanović Andrija
Format: Article
Language:English
Published: Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade 2020-01-01
Series:Vojnosanitetski Pregled
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Online Access:http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800117D.pdf
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author Đorđević Vesna
Denčić-Fekete Marija
Jovanović Jelica
Soldatović Ivan
Janković Gradimir
Bogdanović Andrija
author_facet Đorđević Vesna
Denčić-Fekete Marija
Jovanović Jelica
Soldatović Ivan
Janković Gradimir
Bogdanović Andrija
author_sort Đorđević Vesna
collection DOAJ
description Abstract Background/Aim. Primary myelofibrosis (PMF) is a chronic, malignant hematological disease characterized by a leucoerythroblastic blood picture, anisopoikilocytosis teardrop- shaped erythrocytes, different degrees of bone marrow fibrosis and hepatosplenomegaly due to extramedullary hematopoiesis. Among genetic specificities of the disease, those that stand out are chromosomal aberrations in pathological, myeloid blood cells. The aim of this study was to examine the prognostic significance of clinical, hematologic and cytogenetic parameters in PMF. Methods. A retrospective study included 144 patients with PMF. Karyotypes were analyzed using conventional cytogenetic methods. Results. The chromosome examinations were successful in 126 (88%) patients and failed in the remainder ones (12%). Karyotype was abnormal in 36/126 (29%) subjects at presentation. The most frequent changes included +9, 13q- and 20q- (28%). Other abnormalities were: aberrations of chromosome 18 and 16, deletions (9q-, 12p-, 7q-, 5q-, 6q-, 8q-), trisomies (+1q, +8, +10, +21), monosomies (-7, -11), 3q inversion and loss of Y chromosome. We detected four novel balanced translocations in PMF: t(17;22)(q11;q13), t(15;17)(q22;q25), t(9;12)(q22;q24) and t(2;4)(q21;p16), one constitutional translocation-rob(13;14)(q10;q10) and some new karyotype anomalies ˗ deletion of both homologues, hyperdiploidy and the coexistence of unrelated pathological clones. Conclusion. Chromosomal aberrations had a significant influence on overall survival of patients with PMF according to the refined cytogenetic-risk of the International Prognostic Scoring System (Refined CIPSS) (p = 0.004). Our patients matched the pattern of chromosome aberrations usually observed in PMF but some newly registered, balanced translocations and other rare karyotype anomalies were recorded as well. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. III 41004]
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spelling doaj-art-7a2dfc4bdc77472d87fdbe3c595f51122025-08-20T02:07:16ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202020-01-0177551652410.2298/VSP171129117D0042-84501800117DSignificance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experienceĐorđević Vesna0Denčić-Fekete Marija1Jovanović Jelica2Soldatović Ivan3Janković Gradimir4Bogdanović Andrija5Clinical Center of Serbia, Clinic of Hematology, Belgrade, SerbiaClinical Center of Serbia, Clinic of Hematology, Belgrade, SerbiaClinical Center of Serbia, Clinic of Hematology, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + Institute for Medical Statistics and Informatics, Belgrade, SerbiaClinical Center of Serbia, Clinic of Hematology, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaClinical Center of Serbia, Clinic of Hematology, Belgrade, Serbia + University of Belgrade, Faculty of Medicine, Belgrade, SerbiaAbstract Background/Aim. Primary myelofibrosis (PMF) is a chronic, malignant hematological disease characterized by a leucoerythroblastic blood picture, anisopoikilocytosis teardrop- shaped erythrocytes, different degrees of bone marrow fibrosis and hepatosplenomegaly due to extramedullary hematopoiesis. Among genetic specificities of the disease, those that stand out are chromosomal aberrations in pathological, myeloid blood cells. The aim of this study was to examine the prognostic significance of clinical, hematologic and cytogenetic parameters in PMF. Methods. A retrospective study included 144 patients with PMF. Karyotypes were analyzed using conventional cytogenetic methods. Results. The chromosome examinations were successful in 126 (88%) patients and failed in the remainder ones (12%). Karyotype was abnormal in 36/126 (29%) subjects at presentation. The most frequent changes included +9, 13q- and 20q- (28%). Other abnormalities were: aberrations of chromosome 18 and 16, deletions (9q-, 12p-, 7q-, 5q-, 6q-, 8q-), trisomies (+1q, +8, +10, +21), monosomies (-7, -11), 3q inversion and loss of Y chromosome. We detected four novel balanced translocations in PMF: t(17;22)(q11;q13), t(15;17)(q22;q25), t(9;12)(q22;q24) and t(2;4)(q21;p16), one constitutional translocation-rob(13;14)(q10;q10) and some new karyotype anomalies ˗ deletion of both homologues, hyperdiploidy and the coexistence of unrelated pathological clones. Conclusion. Chromosomal aberrations had a significant influence on overall survival of patients with PMF according to the refined cytogenetic-risk of the International Prognostic Scoring System (Refined CIPSS) (p = 0.004). Our patients matched the pattern of chromosome aberrations usually observed in PMF but some newly registered, balanced translocations and other rare karyotype anomalies were recorded as well. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. III 41004]http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800117D.pdfchromosome aberrationscytogeneticsprimary myelofibrosisprognosis
spellingShingle Đorđević Vesna
Denčić-Fekete Marija
Jovanović Jelica
Soldatović Ivan
Janković Gradimir
Bogdanović Andrija
Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
Vojnosanitetski Pregled
chromosome aberrations
cytogenetics
primary myelofibrosis
prognosis
title Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
title_full Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
title_fullStr Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
title_full_unstemmed Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
title_short Significance of cytogenetic-risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis: A single-center experience
title_sort significance of cytogenetic risk categories and refined international prognostic scoring system for overall survival in primary myelofibrosis a single center experience
topic chromosome aberrations
cytogenetics
primary myelofibrosis
prognosis
url http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800117D.pdf
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