Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Patient-tailored analysis… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Patient-tailored analysis of minimal residual disease in acute myeloid leukemia using next generation sequencing.

Artikel i vetenskaplig tidskrift
Författare Erik Malmberg
Sara Ståhlman
Anna Rehammar
Tore Samuelsson
Sofie J. Alm
Erik Kristiansson
Jonas Abrahamsson
Hege Garelius
Louise Pettersson
Mats Ehinger
Lars Palmqvist
Linda Fogelstrand
Publicerad i European journal of haematology
Volym 98
Nummer/häfte 1
Sidor 26–37
ISSN 1600-0609
Publiceringsår 2017
Publicerad vid Institutionen för matematiska vetenskaper
Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi
Sidor 26–37
Språk en
Länkar dx.doi.org/10.1111/ejh.12780
Ämnesord acute myeloid leukemia; minimal residual disease; massively parallel sequencing
Ämneskategorier Pediatrik

Sammanfattning

Next generation sequencing techniques have revealed that leukemic cells in acute myeloid leukemia often are characterized by a limited number of somatic mutations. These mutations can be the basis for detection of leukemic cells in follow-up samples. The aim of this study was to identify leukemia-specific mutations in cells from patients with acute myeloid leukemia and to use these mutations as markers for minimal residual disease. Leukemic cells and normal lymphocytes were simultaneously isolated at diagnosis from 17 patients with acute myeloid leukemia using fluorescence activated cell sorting. Exome sequencing of these cells identified 240 leukemia-specific single nucleotide variations and 22 small insertions and deletions. Based on estimated allele frequencies and their accuracies, 191 of these mutations qualified as candidates for minimal residual disease analysis. Targeted deep sequencing with a significance threshold of 0.027% for single nucleotide variations and 0.006% for NPM1 type A mutation was developed for quantification of minimal residual disease. When tested on follow-up samples from a patient with acute myeloid leukemia, targeted deep sequencing of single nucleotide variations as well as NPM1 was more sensitive than minimal residual disease quantification with multiparameter flow cytometry. In conclusion, we here describe how exome sequencing can be used for identification of leukemia-specific mutations in samples already at diagnosis of acute myeloid leukemia. We also show that targeted deep sequencing of such mutations, including single nucleotide variations, can be used for high-sensitivity quantification of minimal residual disease in a patient-tailored manner. This article is protected by copyright. All rights reserved.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?