Please use this identifier to cite or link to this item: https://doi.org/10.3324/haematol.2018.202911
Title: Mutational and transcriptomic profiling of acute leukemia of ambiguous lineage reveals obscure but clinically important lineage bias
Authors: Lao, ZT 
Ding, LW 
An, O 
Hattori, N
Sun, QY 
Tan, KT 
Mayakonda, A 
Chuan, WG 
Madan, V 
Lin, DC 
Yang, H 
Koeffler, HP 
Keywords: 0604 Genetics
1112 Oncology and Carcinogenesis
Biomedical
Basic Science
Pediatric Cancer
Childhood Leukemia
Cancer
Human Genome
Pediatric Research Initiative
Hematology
Genetics
Pediatric
Clinical Research
Rare Diseases
Cancer
2.1 Biological and endogenous factors
Issue Date: 1-May-2019
Publisher: Ferrata Storti Foundation (Haematologica)
Citation: Lao, ZT, Ding, LW, An, O, Hattori, N, Sun, QY, Tan, KT, Mayakonda, A, Chuan, WG, Madan, V, Lin, DC, Yang, H, Koeffler, HP (2019-05-01). Mutational and transcriptomic profiling of acute leukemia of ambiguous lineage reveals obscure but clinically important lineage bias. Haematologica 104 (5) : e200-e203. ScholarBank@NUS Repository. https://doi.org/10.3324/haematol.2018.202911
Abstract: Acute leukemia of ambiguous lineage (ALAL) is a rare group of blood cancers that cannot be clearly classified into either myeloid or lymphoid lineage through traditional immunophenotyping (2016 World Health Organization classification). In this study, we performed exome and transcriptome sequencing of 15 diagnosis/relapse samples to identify mutations of this disease. Remarkably, genes involved in DNA repair pathway were frequently mutated and occurred in 80% of the samples. In addition, well known mutations of hematopoietic neoplasms were found in these samples, such as DNMT3A, RUNX1, NOTCH1 and NRAS. A number of ALAL samples simultaneously harboured mutations of both myeloid and lymphoid neoplasm associated genes, which may explain (at least partially) the mixed lineage phenotype of this abnormality. Our study provides novel insights into this rare leukemic entity which may help to develop a better therapeutic strategy. Copyright © 2018, Ferrata Storti Foundation.
Source Title: Haematologica
URI: https://scholarbank.nus.edu.sg/handle/10635/155184
ISSN: 0390-6078
1592-8721
DOI: 10.3324/haematol.2018.202911
Appears in Collections:Staff Publications
Elements

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
2018-mutational_transcriptomic_profiling_acute_leukemia-published.pdf1.19 MBAdobe PDF

OPEN

PublishedView/Download

Page view(s)

65
checked on Sep 5, 2019

Download(s)

1
checked on Sep 5, 2019

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.