Mijelodisplazna/mijeloproliferativna neoplazma sa t(2;11)(P21;Q23)del(5) (Q22;Q33) ali bez mixed-lineage leukemia (MLL) rearanžmana

  • Nataša Čolović Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia
  • Marija Denčić-Fekete Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia
  • Dragana Stamatović Military Medical Academy, Clinic for Hematology, Belgrade, Serbia
  • Danijela Leković Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia
  • Mirjana Gotić Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia
DOI: https://doi.org/10.2298/VSP190127011C
Ključne reči: mijelodisplastički sindromi, trombocitoza, trombocitoza; mijeloproliferativni poremećaji, janus kinaza 2, mutacije, antineoplastici, lenalidomid, lečenje, ishod

Sažetak


Uvod. Mijelodisplazne/mijeloproliferativne neoplazme predstavljaju grupu retkih hematoloških maligniteta sa istovremeno prisutnim osobinama dva različita oboljenja. U perifernoj krvi postoji citopenija jedne krvne loze uz citozu drugih krvnih elementa sa displastičnom morfologijom, dok se u koštanoj srži nalazi hiperplazija. Mnoge citogenetske i molekularne osobine su nađene u ovom retkom entitetu, ali t(2;11)(p21;q23)del(5) (q22;q33) do sada nije opisana. Prikaz bolesnika. Prikazan je bolesnik sa mijelodisplaznim sindromom, podtip refraktorna anemija bez prstenastih sideroblasta, sa jedinstvenom translokacijom u kariotipu t(2;11)(p21;q23) udružena sa del(5)(q22;q33). Fluorescentna in situ hibridizacija nije utvrdila mixed-lineage leukemia (MLL) genski rearanžman, koji je inače osobina ove translokacije. Nakon godinu dana lečenja suportivnom terapijom sa koncentrovanim eritrocitima, razvila se trombocitoza praćena porastom belih krvnih zrnaca i prisustvom mutacije gena Janus kinaze-2. To je povrdilo evoluciju refraktorne anemije u mijelodisplaznu/ mijeloproliferativnu neoplazmu. Zbog visokog broja trombocita razvio se cerebrovaskularni insult. Bolesnik je u daljem toku lečen suportivno uz dodatak lenalidomida. Nekoliko nedelja nakon ove terapije, nalaz u perifernoj krvi se popravio i bolesnik je postao transfuziono nezavistan. Zaključak. Bolesnici sa citogenetskim nalazom t(2;11)(p21;q23) udruženim sa del(5)(q22;q33), ali bez MLL rearanžmana, uz prisustvo mutacije gena Janus kinaze-2, povoljno odgovaraju na lečenje lenalidomidom i imaju relativno duže ukupno preživljavanje.

Biografija autora

Nataša Čolović, Clinical Center of Serbia, Clinic for Hematology, Belgrade, Serbia

 

 

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Objavljeno
2021/03/18
Broj časopisa
Vol. 78 Br. 2 (2021): Vojnosanitetski Pregled
Rubrika
Prikaz bolesnika