Prognostic significance of mutation profile at diagnosis and
mutation persistence during disease remission in adult acute
myeloid leukaemia patients

J 2019

Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients

FOLTA, Adam, Martin ČULEN, Ivana JEŽÍŠKOVÁ, Zdeňka HERUDKOVÁ, Nikola TOM et. al.

Základní údaje

Originální název

Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients

Autoři

FOLTA, Adam, Martin ČULEN (703 Slovensko, domácí), Ivana JEŽÍŠKOVÁ, Zdeňka HERUDKOVÁ (203 Česká republika, domácí), Nikola TOM (203 Česká republika, domácí), Tereza HLUBINKOVÁ (203 Česká republika, domácí), Veronika JANEČKOVÁ, Anna ĎURINÍKOVÁ (703 Slovensko, domácí), Jan VYDRA, Lukáš SEMERÁD (203 Česká republika, domácí), Dana DVOŘÁKOVÁ (203 Česká republika, domácí), Hana REMEŠOVÁ, Ela CEROVSKÁ, Petr CETKOVSKÝ, Pavel JINDRA, Tomáš SZOTKOWSKI, Pavel ŽÁK, Jiří MAYER (203 Česká republika, domácí) a Zdeněk RÁČIL (203 Česká republika, garant, domácí)

Vydání

British journal of haematology, England, Wiley-Blackwell, 2019, 0007-1048

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.518

Kód RIV

RIV/00216224:14110/19:00108507

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1111/bjh.15916

UT WoS

000474639800013

Klíčová slova anglicky

acute myeloid leukaemia; next generation sequencing; persistent mutations; prognostic markers; survival

Štítky

14110212, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 31. 3. 2020 22:17, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

In this multi-centre study, we analysed the prognostic impact of mutations in 19 genes associated with myeloid malignancies in 258 newly diagnosed acute myeloid leukaemia patients (aged 19-70 years) undergoing intensive therapy. We identified five patient groups with different prognostic risks and different benefits from allogeneic hematopoietic stem cell transplantation (alloHSCT) within the intermediate cytogenetic risk group patients (n = 184). The most adverse prognosis was observed in patients with DNMT3A and FLT3-ITD co-mutation, whose survival could be significantly improved with alloHSCT. In contrast, the most favourable prognosis without any further benefit from alloHSCT was identified in patients with mutations in NPM1 or CEBPA, after exclusion of the unfavourable prognostic groups defined by mutations in DNMT3A, RUNX1 or genes from chromatin/spliceosome group. An additional analysis of 113 diagnosis-remission paired samples revealed that persistence of non-DNMT3A mutations (above 2% VAF) represented a further negative prognostic factor. The proposed model offers a possible molecular stratification and treatment guidance for intermediate cytogenetic risk group patients.

Návaznosti

NV15-25809A, projekt VaV

Název: Národní program studia mutací a klonality leukemických buněk u pacientů s akutní myeloidní leukémií

Citovat

FOLTA, Adam, Martin ČULEN, Ivana JEŽÍŠKOVÁ, Zdeňka HERUDKOVÁ, Nikola TOM, Tereza HLUBINKOVÁ, Veronika JANEČKOVÁ, Anna ĎURINÍKOVÁ, Jan VYDRA, Lukáš SEMERÁD, Dana DVOŘÁKOVÁ, Hana REMEŠOVÁ, Ela CEROVSKÁ, Petr CETKOVSKÝ, Pavel JINDRA, Tomáš SZOTKOWSKI, Pavel ŽÁK, Jiří MAYER a Zdeněk RÁČIL. Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients. British journal of haematology. England: Wiley-Blackwell, 2019, roč. 186, č. 2, s. 300-310. ISSN 0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.15916.

@article{1552216,
   author = {Folta, Adam and Čulen, Martin and Ježíšková, Ivana and Herudková, Zdeňka and Tom, Nikola and Hlubinková, Tereza and Janečková, Veronika and Ďuriníková, Anna and Vydra, Jan and Semerád, Lukáš and Dvořáková, Dana and Remešová, Hana and Cerovská, Ela and Cetkovský, Petr and Jindra, Pavel and Szotkowski, Tomáš and Žák, Pavel and Mayer, Jiří and Ráčil, Zdeněk},
   article_location = {England},
   article_number = {2},
   doi = {http://dx.doi.org/10.1111/bjh.15916},
   keywords = {acute myeloid leukaemia; next generation sequencing; persistent mutations; prognostic markers; survival},
   language = {eng},
   issn = {0007-1048},
   journal = {British journal of haematology},
   title = {Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients},
   url = {http://dx.doi.org/10.1111/bjh.15916},
   volume = {186},
   year = {2019}
}

TY  - JOUR
ID  - 1552216
AU  - Folta, Adam - Čulen, Martin - Ježíšková, Ivana - Herudková, Zdeňka - Tom, Nikola - Hlubinková, Tereza - Janečková, Veronika - Ďuriníková, Anna - Vydra, Jan - Semerád, Lukáš - Dvořáková, Dana - Remešová, Hana - Cerovská, Ela - Cetkovský, Petr - Jindra, Pavel - Szotkowski, Tomáš - Žák, Pavel - Mayer, Jiří - Ráčil, Zdeněk
PY  - 2019
TI  - Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients
JF  - British journal of haematology
VL  - 186
IS  - 2
SP  - 300-310
EP  - 300-310
PB  - Wiley-Blackwell
SN  - 00071048
KW  - acute myeloid leukaemia
KW  - next generation sequencing
KW  - persistent mutations
KW  - prognostic markers
KW  - survival
UR  - http://dx.doi.org/10.1111/bjh.15916
L2  - http://dx.doi.org/10.1111/bjh.15916
N2  - In this multi-centre study, we analysed the prognostic impact of mutations in 19 genes associated with myeloid malignancies in 258 newly diagnosed acute myeloid leukaemia patients (aged 19-70 years) undergoing intensive therapy. We identified five patient groups with different prognostic risks and different benefits from allogeneic hematopoietic stem cell transplantation (alloHSCT) within the intermediate cytogenetic risk group patients (n = 184). The most adverse prognosis was observed in patients with DNMT3A and FLT3-ITD co-mutation, whose survival could be significantly improved with alloHSCT. In contrast, the most favourable prognosis without any further benefit from alloHSCT was identified in patients with mutations in NPM1 or CEBPA, after exclusion of the unfavourable prognostic groups defined by mutations in DNMT3A, RUNX1 or genes from chromatin/spliceosome group. An additional analysis of 113 diagnosis-remission paired samples revealed that persistence of non-DNMT3A mutations (above 2% VAF) represented a further negative prognostic factor. The proposed model offers a possible molecular stratification and treatment guidance for intermediate cytogenetic risk group patients.
ER  -

FOLTA, Adam, Martin ČULEN, Ivana JEŽÍŠKOVÁ, Zdeňka HERUDKOVÁ, Nikola TOM, Tereza HLUBINKOVÁ, Veronika JANEČKOVÁ, Anna ĎURINÍKOVÁ, Jan VYDRA, Lukáš SEMERÁD, Dana DVOŘÁKOVÁ, Hana REMEŠOVÁ, Ela CEROVSKÁ, Petr CETKOVSKÝ, Pavel JINDRA, Tomáš SZOTKOWSKI, Pavel ŽÁK, Jiří MAYER a Zdeněk RÁČIL. Prognostic significance of mutation profile at diagnosis and mutation persistence during disease remission in adult acute myeloid leukaemia patients. \textit{British journal of haematology}. England: Wiley-Blackwell, 2019, roč.~186, č.~2, s.~300-310. ISSN~0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.15916.

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