Please use this identifier to cite or link to this item: https://doi.org/10.3324/haematol.2018.202911
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dc.titleMutational and transcriptomic profiling of acute leukemia of ambiguous lineage reveals obscure but clinically important lineage bias
dc.contributor.authorLao, ZT
dc.contributor.authorDing, LW
dc.contributor.authorAn, O
dc.contributor.authorHattori, N
dc.contributor.authorSun, QY
dc.contributor.authorTan, KT
dc.contributor.authorMayakonda, A
dc.contributor.authorChuan, WG
dc.contributor.authorMadan, V
dc.contributor.authorLin, DC
dc.contributor.authorYang, H
dc.contributor.authorKoeffler, HP
dc.date.accessioned2019-06-06T01:22:41Z
dc.date.available2019-06-06T01:22:41Z
dc.date.issued2019-05-01
dc.identifier.citationLao, 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
dc.identifier.issn0390-6078
dc.identifier.issn1592-8721
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/155184
dc.description.abstractAcute 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.
dc.publisherFerrata Storti Foundation (Haematologica)
dc.sourceElements
dc.subject0604 Genetics
dc.subject1112 Oncology and Carcinogenesis
dc.subjectBiomedical
dc.subjectBasic Science
dc.subjectPediatric Cancer
dc.subjectChildhood Leukemia
dc.subjectCancer
dc.subjectHuman Genome
dc.subjectPediatric Research Initiative
dc.subjectHematology
dc.subjectGenetics
dc.subjectPediatric
dc.subjectClinical Research
dc.subjectRare Diseases
dc.subjectCancer
dc.subject2.1 Biological and endogenous factors
dc.typeLetter
dc.date.updated2019-06-03T08:00:24Z
dc.contributor.departmentCANCER SCIENCE INSTITUTE OF SINGAPORE
dc.contributor.departmentDEPT OF MEDICINE
dc.description.doi10.3324/haematol.2018.202911
dc.description.sourcetitleHaematologica
dc.description.volume104
dc.description.issue5
dc.description.pagee200-e203
dc.published.statePublished
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