High EVI1 Expression due to NRIP1/EVI1 Fusion in Therapy-related Acute Myeloid Leukemia: Description of the First Pediatric Case

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F20%3A00117268" target="_blank" >RIV/00216224:14310/20:00117268 - isvavai.cz</a>

Výsledek na webu

<a href="https://journals.lww.com/hemasphere/Fulltext/2020/10000/High_EVI1_Expression_due_to_NRIP1_EVI1_Fusion_in.13.aspx" target="_blank" >https://journals.lww.com/hemasphere/Fulltext/2020/10000/High_EVI1_Expression_due_to_NRIP1_EVI1_Fusion_in.13.aspx</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/HS9.0000000000000471" target="_blank" >10.1097/HS9.0000000000000471</a>

Jazyk výsledku

angličtina

Název v původním jazyce

High EVI1 Expression due to NRIP1/EVI1 Fusion in Therapy-related Acute Myeloid Leukemia: Description of the First Pediatric Case

Popis výsledku v původním jazyce

Disruption of chromosome 3 at band 3q26 has been well-documented in acute myeloid leukemia (AML), chronic myeloid leukemia (CML) and myelodysplastic syndromes (MDS). Clinically, 3q26.2 rearrangements correlate with elevated platelet counts, marked hyperplasia with dysplasia of megakaryocytes, aggressive clinical course and unfavorable prognosis with conventional therapy. Chromosome 3q26 abnormalities have been reported to activate the aberrant expression of the human Ecotropic Virus Integration site-1 gene (EVI1 known as MECOM-MDS1 and EVI1 complex locus), a transcriptional factor with an essential role in proliferation and maintenance of hematopoietic stem cells. Although the exact role of EVI1 in leukemogenesis is not completely known, a recent study revealed that it may be involved in leukemic cell proliferation and apoptosis via the regulation of miR-9 promoter methylation, thus suggesting the possible role of hypomethylating agents in EVI1 over-expressed leukaemia. EVI1 up regulation occurs in approximately 8% to 10% of human adult AML and, strikingly, up to 27% of pediatric KMT2A (MLL) rearranged leukemia cases. The most frequent abnormalities resulting in inappropriate activation of EVI1 are the inversion inv(3)(q21q26) and the translocation t(3;3)(q21;q26.2). However, EVI1 can be rearranged with a variety of other partner genes [1q41 (DUSP10), 7q21 (CDK6), 7q34 (TCRB), 12p34 (ETV6), 21q22 (RUNX1)]. Its increased expression can also be detected in cytogenetically normal AML, in aberrant cytogenetic subgroups, such as monosomy 7 and 11q23/MLL translocations, as well as in patients with cryptic 3q26 rearrangements. In particular, the cryptic t(3;21)(q26;q11) rearrangement, resulting in NRIP1/EVI1 fusion, has been identified using FISH analyses in 9 adults, 4 AML and 5 MDS so far.12 All patients showed a high EVI1 expression and an adverse prognosis with a median overall survival (OS) of 9.4 months.

Název v anglickém jazyce

High EVI1 Expression due to NRIP1/EVI1 Fusion in Therapy-related Acute Myeloid Leukemia: Description of the First Pediatric Case

Popis výsledku anglicky

Disruption of chromosome 3 at band 3q26 has been well-documented in acute myeloid leukemia (AML), chronic myeloid leukemia (CML) and myelodysplastic syndromes (MDS). Clinically, 3q26.2 rearrangements correlate with elevated platelet counts, marked hyperplasia with dysplasia of megakaryocytes, aggressive clinical course and unfavorable prognosis with conventional therapy. Chromosome 3q26 abnormalities have been reported to activate the aberrant expression of the human Ecotropic Virus Integration site-1 gene (EVI1 known as MECOM-MDS1 and EVI1 complex locus), a transcriptional factor with an essential role in proliferation and maintenance of hematopoietic stem cells. Although the exact role of EVI1 in leukemogenesis is not completely known, a recent study revealed that it may be involved in leukemic cell proliferation and apoptosis via the regulation of miR-9 promoter methylation, thus suggesting the possible role of hypomethylating agents in EVI1 over-expressed leukaemia. EVI1 up regulation occurs in approximately 8% to 10% of human adult AML and, strikingly, up to 27% of pediatric KMT2A (MLL) rearranged leukemia cases. The most frequent abnormalities resulting in inappropriate activation of EVI1 are the inversion inv(3)(q21q26) and the translocation t(3;3)(q21;q26.2). However, EVI1 can be rearranged with a variety of other partner genes [1q41 (DUSP10), 7q21 (CDK6), 7q34 (TCRB), 12p34 (ETV6), 21q22 (RUNX1)]. Its increased expression can also be detected in cytogenetically normal AML, in aberrant cytogenetic subgroups, such as monosomy 7 and 11q23/MLL translocations, as well as in patients with cryptic 3q26 rearrangements. In particular, the cryptic t(3;21)(q26;q11) rearrangement, resulting in NRIP1/EVI1 fusion, has been identified using FISH analyses in 9 adults, 4 AML and 5 MDS so far.12 All patients showed a high EVI1 expression and an adverse prognosis with a median overall survival (OS) of 9.4 months.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

HemaSphere

ISSN

2572-9241

e-ISSN

—

Svazek periodika

4

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

1-4

Kód UT WoS článku

000588493800014

EID výsledku v databázi Scopus

2-s2.0-85111576511