Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji
Clinical significance of TP53 aberrations and IGHV mutational status in chronic lymphocytic leukemia
Апстракт
Hronična limfocitna leukemija (HLL) izuzetno je heterogena bolest varijabilnog kliničkog toka. S jedne strane imamo, pacijente sa agresivnom i rezistentnom bolešću od koje umiru svega par meseci nakon dijagnoze, dok s druge strane spektra postoje pacijenti sa indolentnom, sporo progredirajućom bolešću koja ne zahteva lečenje decenijama. Razlozi su samo delimično poznati i već su decenijama unazad tema mnogobrojnih naučnih istraživanja. Tako je razvijen koncept prognostičkih i prediktivnih faktora u HLL-u, koji imaju za cilj da predvide klinički tok, odnosno terapijski ishod HLL-a. Liste prognostičkih i prediktivnih faktora su, sa boljim poznavanjem patofiziologije ove bolesti, svakom godinom sve duže, ali se i međusobno preklapaju. U ovom revijalnom radu izabrali smo aberacije TP53 gena i mutacioni status rearanžiranih IGHV (engl. immunoglobulin heavy variable) gena kao dva najznačajnija i najproučavanija faktora koji imaju i prognostički i prediktivni značaj.
Chronic lymphocytic leukemia (CLL) is a very heterogeneous disease with a variable clinical course. On the one side of the spectrum, there are patients with aggressive and resistant disease, of which they die only a few months after diagnosis while, on the other side, there are patients with an indolent, slowly progressive disease that does not require treatment for decades. The reasons for this are only partially known, but they have been the subject of numerous scientific studies during the last several decades. Consequently, the concept of prognostic and predictive factors in CLL have emerged, which aims to predict the clinical course and its therapeutic outcome. With the improvement of understanding the pathophysiology of this disease, the lists of prognostic and predictive factors are getting longer every year, but they also overlap. In this review, we singled out the aberrations of the TP53 gene and the IGHV (immunoglobulin heavy variable) gene mutational status as the two most i...mportant and most studied factors that have both prognostic and predictive significance.
Кључне речи:
IGHV mutacioni status / hronična limfocitna leukemija / aberacije TP53 gena / TP53 aberrations / IGHV mutational status / chronic lymphocytic leukemiaИзвор:
Medicinski podmladak, 2020, 71, 4, 47-53Издавач:
- Univerzitet u Beogradu - Medicinski fakultet, Beograd
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Tomić, Kristina AU - Karan-Đurašević, Teodora AU - Vuković, Vojin AU - Mihaljević, Biljana AU - Antić, Darko PY - 2020 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1346 AB - Hronična limfocitna leukemija (HLL) izuzetno je heterogena bolest varijabilnog kliničkog toka. S jedne strane imamo, pacijente sa agresivnom i rezistentnom bolešću od koje umiru svega par meseci nakon dijagnoze, dok s druge strane spektra postoje pacijenti sa indolentnom, sporo progredirajućom bolešću koja ne zahteva lečenje decenijama. Razlozi su samo delimično poznati i već su decenijama unazad tema mnogobrojnih naučnih istraživanja. Tako je razvijen koncept prognostičkih i prediktivnih faktora u HLL-u, koji imaju za cilj da predvide klinički tok, odnosno terapijski ishod HLL-a. Liste prognostičkih i prediktivnih faktora su, sa boljim poznavanjem patofiziologije ove bolesti, svakom godinom sve duže, ali se i međusobno preklapaju. U ovom revijalnom radu izabrali smo aberacije TP53 gena i mutacioni status rearanžiranih IGHV (engl. immunoglobulin heavy variable) gena kao dva najznačajnija i najproučavanija faktora koji imaju i prognostički i prediktivni značaj. AB - Chronic lymphocytic leukemia (CLL) is a very heterogeneous disease with a variable clinical course. On the one side of the spectrum, there are patients with aggressive and resistant disease, of which they die only a few months after diagnosis while, on the other side, there are patients with an indolent, slowly progressive disease that does not require treatment for decades. The reasons for this are only partially known, but they have been the subject of numerous scientific studies during the last several decades. Consequently, the concept of prognostic and predictive factors in CLL have emerged, which aims to predict the clinical course and its therapeutic outcome. With the improvement of understanding the pathophysiology of this disease, the lists of prognostic and predictive factors are getting longer every year, but they also overlap. In this review, we singled out the aberrations of the TP53 gene and the IGHV (immunoglobulin heavy variable) gene mutational status as the two most important and most studied factors that have both prognostic and predictive significance. PB - Univerzitet u Beogradu - Medicinski fakultet, Beograd T2 - Medicinski podmladak T1 - Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji T1 - Clinical significance of TP53 aberrations and IGHV mutational status in chronic lymphocytic leukemia EP - 53 IS - 4 SP - 47 VL - 71 DO - 10.5937/mp71-28969 ER -
@article{ author = "Tomić, Kristina and Karan-Đurašević, Teodora and Vuković, Vojin and Mihaljević, Biljana and Antić, Darko", year = "2020", abstract = "Hronična limfocitna leukemija (HLL) izuzetno je heterogena bolest varijabilnog kliničkog toka. S jedne strane imamo, pacijente sa agresivnom i rezistentnom bolešću od koje umiru svega par meseci nakon dijagnoze, dok s druge strane spektra postoje pacijenti sa indolentnom, sporo progredirajućom bolešću koja ne zahteva lečenje decenijama. Razlozi su samo delimično poznati i već su decenijama unazad tema mnogobrojnih naučnih istraživanja. Tako je razvijen koncept prognostičkih i prediktivnih faktora u HLL-u, koji imaju za cilj da predvide klinički tok, odnosno terapijski ishod HLL-a. Liste prognostičkih i prediktivnih faktora su, sa boljim poznavanjem patofiziologije ove bolesti, svakom godinom sve duže, ali se i međusobno preklapaju. U ovom revijalnom radu izabrali smo aberacije TP53 gena i mutacioni status rearanžiranih IGHV (engl. immunoglobulin heavy variable) gena kao dva najznačajnija i najproučavanija faktora koji imaju i prognostički i prediktivni značaj., Chronic lymphocytic leukemia (CLL) is a very heterogeneous disease with a variable clinical course. On the one side of the spectrum, there are patients with aggressive and resistant disease, of which they die only a few months after diagnosis while, on the other side, there are patients with an indolent, slowly progressive disease that does not require treatment for decades. The reasons for this are only partially known, but they have been the subject of numerous scientific studies during the last several decades. Consequently, the concept of prognostic and predictive factors in CLL have emerged, which aims to predict the clinical course and its therapeutic outcome. With the improvement of understanding the pathophysiology of this disease, the lists of prognostic and predictive factors are getting longer every year, but they also overlap. In this review, we singled out the aberrations of the TP53 gene and the IGHV (immunoglobulin heavy variable) gene mutational status as the two most important and most studied factors that have both prognostic and predictive significance.", publisher = "Univerzitet u Beogradu - Medicinski fakultet, Beograd", journal = "Medicinski podmladak", title = "Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji, Clinical significance of TP53 aberrations and IGHV mutational status in chronic lymphocytic leukemia", pages = "53-47", number = "4", volume = "71", doi = "10.5937/mp71-28969" }
Tomić, K., Karan-Đurašević, T., Vuković, V., Mihaljević, B.,& Antić, D.. (2020). Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji. in Medicinski podmladak Univerzitet u Beogradu - Medicinski fakultet, Beograd., 71(4), 47-53. https://doi.org/10.5937/mp71-28969
Tomić K, Karan-Đurašević T, Vuković V, Mihaljević B, Antić D. Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji. in Medicinski podmladak. 2020;71(4):47-53. doi:10.5937/mp71-28969 .
Tomić, Kristina, Karan-Đurašević, Teodora, Vuković, Vojin, Mihaljević, Biljana, Antić, Darko, "Klinički značaj aberacija TP53 gena i IGHV mutacionog statusa u hroničnoj limfocitnoj leukemiji" in Medicinski podmladak, 71, no. 4 (2020):47-53, https://doi.org/10.5937/mp71-28969 . .