Next Generation Sequencing of Suspected Myelodysplastic Syndromes

Simon Kavanagh

doi:10.26182/5eb34e275a83c

Next Generation Sequencing of Suspected Myelodysplastic Syndromes

Simon Kavanagh

UWA Medical School

Research output: Thesis › Master's Thesis

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Abstract

High-throughput DNA sequencing can detect pathogenic mutations in bone marrow from patients with myelodysplastic syndrome (MDS).
In this study, blood and bone marrow from patients with unexplained cytopenias were sequenced. Pathogenic variants were identified in 33.8% of patients with complete concordance between blood and marrow in 75/77 (97.4%) for these variants. Detection was 56% sensitive and 76.9% specific for a diagnosis of MDS.
Sequencing blood is a reasonable alternative to marrow but may be limited when the variants are at low allele frequency. While associated with MDS, the presence of pathogenic variants was insufficiently sensitive/specific to replace conventional diagnostic methods.

Original language	English
Qualification	Masters
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Erber, Wendy, Supervisor Howman, Rebecca, Supervisor
Award date	10 Mar 2020
DOIs	https://doi.org/10.26182/5eb34e275a83c
Publication status	Unpublished - 2020

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10.26182/5eb34e275a83c

THESIS - MASTER OF CLINICAL RESEARCH - KAVANAGH Simon Edward - 2020
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Cite this

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title = "Next Generation Sequencing of Suspected Myelodysplastic Syndromes",

abstract = "High-throughput DNA sequencing can detect pathogenic mutations in bone marrow from patients with myelodysplastic syndrome (MDS).In this study, blood and bone marrow from patients with unexplained cytopenias were sequenced. Pathogenic variants were identified in 33.8% of patients with complete concordance between blood and marrow in 75/77 (97.4%) for these variants. Detection was 56% sensitive and 76.9% specific for a diagnosis of MDS.Sequencing blood is a reasonable alternative to marrow but may be limited when the variants are at low allele frequency. While associated with MDS, the presence of pathogenic variants was insufficiently sensitive/specific to replace conventional diagnostic methods.",

keywords = "DNA sequencing, Myelodysplastic syndromes, Haematological malignancy",

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doi = "10.26182/5eb34e275a83c",

language = "English",

school = "The University of Western Australia",

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T1 - Next Generation Sequencing of Suspected Myelodysplastic Syndromes

AU - Kavanagh, Simon

PY - 2020

Y1 - 2020

N2 - High-throughput DNA sequencing can detect pathogenic mutations in bone marrow from patients with myelodysplastic syndrome (MDS).In this study, blood and bone marrow from patients with unexplained cytopenias were sequenced. Pathogenic variants were identified in 33.8% of patients with complete concordance between blood and marrow in 75/77 (97.4%) for these variants. Detection was 56% sensitive and 76.9% specific for a diagnosis of MDS.Sequencing blood is a reasonable alternative to marrow but may be limited when the variants are at low allele frequency. While associated with MDS, the presence of pathogenic variants was insufficiently sensitive/specific to replace conventional diagnostic methods.

AB - High-throughput DNA sequencing can detect pathogenic mutations in bone marrow from patients with myelodysplastic syndrome (MDS).In this study, blood and bone marrow from patients with unexplained cytopenias were sequenced. Pathogenic variants were identified in 33.8% of patients with complete concordance between blood and marrow in 75/77 (97.4%) for these variants. Detection was 56% sensitive and 76.9% specific for a diagnosis of MDS.Sequencing blood is a reasonable alternative to marrow but may be limited when the variants are at low allele frequency. While associated with MDS, the presence of pathogenic variants was insufficiently sensitive/specific to replace conventional diagnostic methods.

KW - DNA sequencing

KW - Myelodysplastic syndromes

KW - Haematological malignancy

U2 - 10.26182/5eb34e275a83c

DO - 10.26182/5eb34e275a83c

M3 - Master's Thesis

ER -

Next Generation Sequencing of Suspected Myelodysplastic Syndromes

Abstract

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