The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children

Riccardo Masetti, Vanessa Guidi, Laura Ronchini, Nicola Salvatore Bertuccio, Franco Locatelli, Andrea Pession

Research output: Contribution to journalReview article

Abstract

Pediatric non-Down-syndrome acute megakaryoblastic leukemia (non-DS-AMKL) is a heterogeneous subtype of leukemia that has historically been associated with poor prognosis. Until the advent of large-scale genomic sequencing, the management of patients with non-DS-AMKL was very difficult due to the absence of reliable biological prognostic markers. The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new insights into the genetic landscape of pediatric non-DS-AMKL has allowed refining the risk-group stratification, leading to important changes in the prognostic scenario of these patients. This review summarizes the most important molecular pathogenic mechanisms of pediatric non-DS-AMKL. A critical discussion on how novel genetic abnormalities have refined the risk profile assessment and changed the management of these patients in clinical practice is also provided.

Original languageEnglish
Pages (from-to)132-138
Number of pages7
JournalCritical Reviews in Oncology/Hematology
Volume138
DOIs
Publication statusE-pub ahead of print - Apr 15 2019

Fingerprint

Leukemia, Megakaryoblastic, Acute
Pediatrics
Leukemia
Biomarkers

Cite this

The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children. / Masetti, Riccardo; Guidi, Vanessa; Ronchini, Laura; Bertuccio, Nicola Salvatore; Locatelli, Franco; Pession, Andrea.

In: Critical Reviews in Oncology/Hematology, Vol. 138, 15.04.2019, p. 132-138.

Research output: Contribution to journalReview article

Masetti, Riccardo ; Guidi, Vanessa ; Ronchini, Laura ; Bertuccio, Nicola Salvatore ; Locatelli, Franco ; Pession, Andrea. / The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children. In: Critical Reviews in Oncology/Hematology. 2019 ; Vol. 138. pp. 132-138.
@article{15962a6c29df4926adbceff747652d90,
title = "The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children",
abstract = "Pediatric non-Down-syndrome acute megakaryoblastic leukemia (non-DS-AMKL) is a heterogeneous subtype of leukemia that has historically been associated with poor prognosis. Until the advent of large-scale genomic sequencing, the management of patients with non-DS-AMKL was very difficult due to the absence of reliable biological prognostic markers. The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new insights into the genetic landscape of pediatric non-DS-AMKL has allowed refining the risk-group stratification, leading to important changes in the prognostic scenario of these patients. This review summarizes the most important molecular pathogenic mechanisms of pediatric non-DS-AMKL. A critical discussion on how novel genetic abnormalities have refined the risk profile assessment and changed the management of these patients in clinical practice is also provided.",
author = "Riccardo Masetti and Vanessa Guidi and Laura Ronchini and Bertuccio, {Nicola Salvatore} and Franco Locatelli and Andrea Pession",
note = "Copyright {\circledC} 2019 Elsevier B.V. All rights reserved.",
year = "2019",
month = "4",
day = "15",
doi = "10.1016/j.critrevonc.2019.04.011",
language = "English",
volume = "138",
pages = "132--138",
journal = "Critical Reviews in Oncology/Hematology",
issn = "1040-8428",
publisher = "Elsevier Ireland Ltd",

}

TY - JOUR

T1 - The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children

AU - Masetti, Riccardo

AU - Guidi, Vanessa

AU - Ronchini, Laura

AU - Bertuccio, Nicola Salvatore

AU - Locatelli, Franco

AU - Pession, Andrea

N1 - Copyright © 2019 Elsevier B.V. All rights reserved.

PY - 2019/4/15

Y1 - 2019/4/15

N2 - Pediatric non-Down-syndrome acute megakaryoblastic leukemia (non-DS-AMKL) is a heterogeneous subtype of leukemia that has historically been associated with poor prognosis. Until the advent of large-scale genomic sequencing, the management of patients with non-DS-AMKL was very difficult due to the absence of reliable biological prognostic markers. The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new insights into the genetic landscape of pediatric non-DS-AMKL has allowed refining the risk-group stratification, leading to important changes in the prognostic scenario of these patients. This review summarizes the most important molecular pathogenic mechanisms of pediatric non-DS-AMKL. A critical discussion on how novel genetic abnormalities have refined the risk profile assessment and changed the management of these patients in clinical practice is also provided.

AB - Pediatric non-Down-syndrome acute megakaryoblastic leukemia (non-DS-AMKL) is a heterogeneous subtype of leukemia that has historically been associated with poor prognosis. Until the advent of large-scale genomic sequencing, the management of patients with non-DS-AMKL was very difficult due to the absence of reliable biological prognostic markers. The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new insights into the genetic landscape of pediatric non-DS-AMKL has allowed refining the risk-group stratification, leading to important changes in the prognostic scenario of these patients. This review summarizes the most important molecular pathogenic mechanisms of pediatric non-DS-AMKL. A critical discussion on how novel genetic abnormalities have refined the risk profile assessment and changed the management of these patients in clinical practice is also provided.

U2 - 10.1016/j.critrevonc.2019.04.011

DO - 10.1016/j.critrevonc.2019.04.011

M3 - Review article

C2 - 31092368

VL - 138

SP - 132

EP - 138

JO - Critical Reviews in Oncology/Hematology

JF - Critical Reviews in Oncology/Hematology

SN - 1040-8428

ER -