Brza progresija hronične limfocitne leukemije u Rihterov sindrom kod bolesnika sa kariotipom blizu triploidnog broja hromozoma

  • Marija Denčić-Fekete University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Tatjana Terzić University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Ljubomir Jaković University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Vladislava Djurašinović University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Teodora Karan Djurašević University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia
  • Milica Radojković University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Sonja Pavlović University of Belgrade, Faculty of Medicine, Belgrade, Serbia
  • Andrija Bogdanović University of Belgrade, Faculty of Medicine, Belgrade, Serbi
DOI: https://doi.org/10.2298/VSP211111060D
Ključne reči: kariotip, abnormalni, hronična limfocitna leukemija, bolest, progresija, kariotip, određvanje, rihterov sindrom

Sažetak


Uvod. Prisustvo aneuploidije kod bolesnika sa dijagnozom hronične limfocitne leukemije (HLL), sa izuzetkom trizomije 12, smatra se retkom pojavom. Pojava hiperdiploidnog ili kariotipa blizu tetraploidnog broja hromozoma (koji se javlja kod 1–3% svih bolesnika sa HLL) smatra se lošim prognostičkim parametrom. Prikaz bolesnika. Prikazan je bolesnik u uznapredovaloj fazi HLL sa kariotipom blizu triploidnog broja hromozoma. Prognoza bolesti je preciznije određena citogenetičkom analizom kariotipa bolesnika, i dopunjena molekularnim metodama i patohistološkom analizom. Otkriveno je prisustvo kompleksnog kariotipa udruženog sa poremećajima u genima TP53, C-MYC i IGH, što je najverovatnije bio uzrok brze progresije u Rihterov sindrom. Zaključak. Primena savremenih dijagnostičkih metoda veoma je značajna kod bolesnika u uznapredovaloj fazi HLL, prvenstveno zbog adekvatnog terapijskog pristupa. Prikazani slučaj ukazuje da je prisustvo aneuploidije kod bolesnika sa HLL loš prognostički znak, što je u saglasnosti sa prethodno publikovanim prikazima bolesnika sa HLL i sa aneuploidijom u kariotipu.

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Objavljeno
2023/05/31
Broj časopisa
Vol. 80 Br. 05 (2023): Vojnosanitetski pregled
Rubrika
Prikaz bolesnika