Authors: K. Slezáková 1; Z. Sninská 1; A. Bátorová 1; A. Žákovičová 2; R. Lukačková 2; Ľ. Majerová 2; J. Marcinek 3; P. Szépe 3; L. Plank 3; K. Rejleková 4 Authors‘ workplace: Klinika hematológie a transfúziológie LFUK a UNB 1; Medirex a. s. 2; Univerzitná nemocnica Martin 3; II. onkologická klinika LF UK a NOÚ 4 Published in: Transfuze Hematol. dnes,32, 2026, No. 1, p. 48-53. Category: Case Reports doi: https://doi.org/10.48095/cctahd202607
Chronic myeloid leukaemia (CML) has become a treatable onco-hematological disease for most of our patients over the past two decades, thanks to tyrosinkinase inhibitors. Their overall survival is comparable to that of the general population and CML is the cause of death in only a small group of patients who are resistant to multiple TKIs. However, the favorable prognosis of CML patients may be negatively affected by secondary malignancy or duplicate clonal bone marrow disease, in addition to TKI resistance. We present a detailed description of clinical, cytomorphological and molecular characteristics of 3 CML patients with coexiting Ph negative myeloproliferative disorders with driver mutations. This article also provides a review of the literature on this issue.
chronic myeloid leukaemia – myelofibrosis – Splenomegaly – tyrosinkinase inhibitors – ruxolitinib
1. Paz DL, Kralovics R, Skoda RC, et al. Genetic basis and molecular profiling in myeloproliferative neoplasms. Blood. 2023; 141 (16): 1909–1921.
2. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organisation classification of haematolymfoid tumours: myeloid and histiocytic/dentritic neoplasms. Leukemia. 2022; 36 : 1703–1719.
3. Höglund M, Sandin F, Simonsson B. Epidemiology of chronic myeloid leukemia: an update. Ann Hematol. 2015; 94 (Suppl 2): S241–S247.
4. Brioli A, Lomaia E, Fabisch C, et al. Management and outcome of patients with chronic myeloid leukemia in blast phase in the tyrosine kinase inhibitor era – analysis of the European LeukemiaNet Blast Phase Registry. Leukemia. 2024; 38 : 1072–1080.
5. Kráľová B, Kapraľová Hlušičková K, Divoký V, et al. Nové poznatky v patofyziológii Ph-negatívnych myeloproliferatívnych neoplázií. Transfuze Hematol Dnes. 2021; 27 (3): 208–217.
6. Tefferi A, Barbui T. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023; 98 (9): 1 456–1487.
7. Elala YC, Lasho TL, Gangat N, et al. Calreticulin variant stratified driver mutational status and prognosis in essential thrombocythemia. Am J Hematol. 2016; 91 : 503–506.
8. Boyd EM, Bench AJ, Goday-Fernandez A, et al. Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocytaemia and primary myelofibrosis. Br J Haematol. 2010; 149 : 250–257.
9. Vannucchi AM, Lasho TL, Guglielmelli P, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013; 27 : 1861–1869.
10. Tefferi A, Guglielmelli P, Lasho TL, et al. MIPSS70+ version 2.0: mutation and karyotype-enhanced International Prognostic Scoring System for primary myelofibrosis. J Clin Oncol. 2018; 36 (17): 1770–2018.
11. Soderquist CR, Ewalt MD, Czuchlewski DR, et al. Myeloproliferative neoplasms with concurrent BCR-ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group. Modern Pathol. 2018; 31 : 690–704.
12. Zanelli M, Fragliasso V, Loscocco G, et al. Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR:: ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease. Front Cell Dev Biol. 2024; 12 : 1391078.
13. Lorenzo M, Grille S, Stevenazzi M. Emergence of BCR-ABL1 chronic myeloid leukemia in a JAK-V617F polycythemia vera. J Hematol. 2020; 9 : 23–29.
14. McKerrell T, Park N, Moreno T, et al. Leukemia-associated somatic mutations frive patterns of age-related clonal hemopoiesis. Cell Rep. 2015; 10 : 1239–1245.
15. Hochman MJ, Smith BD, Karantanos T, et al. Chronic myeloid leukemia (CML) evolves from Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) with unexpected frequency. Int J Hematol. 2023; 117 : 456–462.
16. Sobieralski P, Bieniaszewska M, Leszczyńska A, et al. Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis. Int J Hematol. 2022; 116 (3): 442–445.
17. Verstovsek S, Vanucchi AM, Griesshammer M, et al. Ruxolitinib verzus best available therapy in patients with polycythemia vera: 80-week follow up from the RESPONSE trial. Haematologica. 2016; 101 (7): 821–829.
18. Vestovsek S, Gotlib J, Mesa RA, et al. Long-term survival in patients with myelofibrosis treated with ruxolitinib for myelofibrosis: COMFORT-I and COMFORT-II pooled analyses. J Hematol Oncol. 2017; 10 : 156.
19. Weinbergerová B, Čičátková P, Palová M, et al. Zkušenosti s léčbou ruxolitinibem u pacientů s myelofibrózou a pravou polycytémií na českých hematologických pracovištích. Transfuze Hematol Dnes. 2017; 23 (1): 30–40.
20. Harrison CN, Vannucchi AM, Kiladjian J-J, et al. Long-term findings from Comfort-II, a phase 3 study of ruxolitinib vs best available therapy for myelofibrosis. Leukemia. 2016; 30 : 1701–1707.
21. Rampotas A, Carter-Brzezinsky L, Somervaille T, et al. Outcomes and characteristics of nonmelanoma skin cancers in patients with myeloproliferative neoplasms on ruxolitinib. Blood. 2024; 143 (2): 178–182.
22. Pilotti S, Rilke F, Lombardi L, et al. Neuroendocrine (Merkel cell) carcinoma of the skin. Am J Surg Pathol. 1982; 6 : 243–254.
23. Ratner D, Nelson B, Brown MD, et al. Merkel cell carcinoma. J Am Academ Dermatol. 1993; 29 : 143–156.
24. Paulson KG, Iyer JG, Blom A, et al. Systemic immune suppresion predicts diminished Mercel cell carcinoma-specific survival independent of stage. J Invest Dermatol. 2013; 133 (3): 642–646.
25. Drug Interaction Checker – Find Unsafe Combinations; www.drugs.com
26. Cardama-Quintas A, Han X, Kantarjian H, et al. Dasatinib-induced platelet dysfunction. Blood. 2007; 110 (11): 2941.
27. Hochhaus A, Baccarani M, Silver RT, et al. European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia. Leukemia. 2020; 34 (4): 966–984.
PODIEL AUTOROV NA PÍSANÍ RUKOPISU
SK – liečba pacientov, písanie rukopisu
SZ – liečba pacientov
BA – revízia rukopisu
ŽA, LR, MĽ – laboratórna diagnostika, monitoring liečby
MJ, SP, PL – histologická diagnostika
ČESTNÉ PREHLÁSENIE
Autori práce prehlasujú, že v súvislosti s témou, prípravou a písaním tohto rukopisu nie sú v konflikte záujmov a práca nebola finančne podporená farmaceutickou spoločnosťou.
Do redakce doručeno dne: 15. 3. 2025.
Přijato po recenzi dne: 12. 8. 2025.
MUDr. Katarína Slezáková, PhD
Klinika hematológie a transfúziológie LFUK
a Univerzitnej nemocnice Bratislava
Antolská 11
851 07 Bratislava
Slovensko
e-mail: slezakova@pe.unb.sk, slezak.katarina@gmail.com
Společnost pro transfuzní lékařství, Česká hematologická společnost, Sekce dětské hematologie České pediatrické společnosti*, Česká společnost pro trombózu a hemostázu, Česká společnost anesteziologie, resuscitace a intenzivní medicíny, Česká společnost intenzivní medicíny, Česká chirurgická společnost, Česká internistická společnost, Česká společnost pro ortopedii a traumatologii, Česká neonatologická společnost, Společnost urgentní medicíny a medicíny katastrof ČLS JEP České lékařské společnosti J. E. Purkyně
Don‘t have an account? Create new account
Enter the email address that you registered with. We will send you instructions on how to set a new password.
