CBFA2T3‐GLIS2‐positive acute myeloid leukaemia. A peculiar paediatric entity

R Masetti, SN Bertuccio, A Pession… - British journal of …, 2019 - Wiley Online Library
The scenario of paediatric acute myeloid leukaemia (AML), particularly non‐Down
syndrome acute megakaryoblastic leukaemia (non‐DS‐AMKL), has been recently …

Pediatric acute myeloid leukemia (AML): from genes to models toward targeted therapeutic intervention

T Mercher, J Schwaller - Frontiers in pediatrics, 2019 - frontiersin.org
This review aims to provide an overview of the current knowledge of the genetic lesions
driving pediatric acute myeloid leukemia (AML), emerging biological concepts, and …

A novel NIPBL-NACC1 gene fusion is characteristic of the cholangioblastic variant of intrahepatic cholangiocarcinoma

P Argani, DN Palsgrove, RA Anders… - The American journal …, 2021 - journals.lww.com
We report a novel NIPBL-NACC1 gene fusion in a rare primary hepatic neoplasm previously
described as the “cholangioblastic variant of intrahepatic cholangiocarcinoma.” The 2 index …

Ontogenic changes in hematopoietic hierarchy determine pediatric specificity and disease phenotype in fusion oncogene–driven myeloid leukemia

CK Lopez, E Noguera, V Stavropoulou, E Robert, Z Aid… - Cancer discovery, 2019 - AACR
Fusion oncogenes are prevalent in several pediatric cancers, yet little is known about the
specific associations between age and phenotype. We observed that fusion oncogenes …

Integrating enhancer mechanisms to establish a hierarchical blood development program

C Mehta, KD Johnson, X Gao, IM Ong, KR Katsumura… - Cell reports, 2017 - cell.com
Hematopoietic development requires the transcription factor GATA-2, and GATA-2 mutations
cause diverse pathologies, including leukemia. GATA-2-regulated enhancers increase …

CBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target

Q Le, B Hadland, JL Smith, A Leonti, BJ Huang… - The Journal of Clinical …, 2024 - jci.org
The CBFA2T3-GLIS2 (C/G) fusion is a product of a cryptic translocation primarily seen in
infants and early childhood and is associated with dismal outcome. Here, we demonstrate …

De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia

A Hyrenius-Wittsten, M Pilheden, H Sturesson… - Nature …, 2018 - nature.com
Activating signaling mutations are common in acute leukemia with KMT2A (previously MLL)
rearrangements (KMT2A-R). These mutations are often subclonal and their biological impact …

Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML

SS Riedel, C Lu, HM Xie, K Nestler, MW Vermunt… - Molecular cell, 2021 - cell.com
Summary Meningioma-1 (MN1) overexpression in AML is associated with poor prognosis,
and forced expression of MN1 induces leukemia in mice. We sought to determine how MN1 …

A high-throughput screen indicates gemcitabine and JAK inhibitors may be useful for treating pediatric AML

CD Drenberg, A Shelat, J Dang, A Cotton… - Nature …, 2019 - nature.com
Improvement in survival has been achieved for children and adolescents with AML but is
largely attributed to enhanced supportive care as opposed to the development of better …

CBFA2T3-GLIS2 mediates transcriptional regulation of developmental pathways through a gene regulatory network

EAR Garfinkle, P Nallagatla, B Sahoo, J Dang… - Nature …, 2024 - nature.com
Abstract CBFA2T3-GLIS2 is a fusion oncogene found in pediatric acute megakaryoblastic
leukemia that is associated with a poor prognosis. We establish a model of CBFA2T3-GLIS2 …