Please use this identifier to cite or link to this item:
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
Basic Science
Pediatric Cancer
Childhood Leukemia
Human Genome
Pediatric Research Initiative
Clinical Research
Rare Diseases
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.
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
ISSN: 0390-6078
DOI: 10.3324/haematol.2018.202911
Appears in Collections:Staff Publications

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



Page view(s)

checked on Sep 5, 2019


checked on Sep 5, 2019

Google ScholarTM



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