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 language | English |
|---|---|
| Pages (from-to) | 132-138 |
| Number of pages | 7 |
| Journal | Critical Reviews in Oncology/Hematology |
| Volume | 138 |
| DOIs | |
| Publication status | E-pub ahead of print - Apr 15 2019 |
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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 journal › Review article
}
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 -