Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms

Highlights • We compared different techniques for diagnostic detection of CALR mutations. • We identified MARIMO as an MPN/AML cell line that is CALR mutated. • Targeted NGS has the lowest limit of detection at 1% mutation burden.

Saved in:

Bibliographic Details
Published in:	Leukemia research 2015-01, Vol.39 (1), p.82-87
Main Authors:	Jones, Amy V, Ward, Daniel, Lyon, Matthew, Leung, William, Callaway, Alison, Chase, Andrew, Dent, Carolyn L, White, Helen E, Drexler, Hans G, Nangalia, Jyoti, Mattocks, Chris, Cross, Nicholas C.P
Format:	Article
Language:	eng
Subjects:	Alleles CALR Calreticulin - genetics DNA Mutational Analysis - methods DNA, Neoplasm - genetics Female Hematologic Neoplasms - genetics Hematology, Oncology and Palliative Medicine Humans Lod Score Male MARIMO MPN Mutation Myeloproliferative Disorders - genetics Neoplasm Proteins - genetics
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Highlights • We compared different techniques for diagnostic detection of CALR mutations. • We identified MARIMO as an MPN/AML cell line that is CALR mutated. • Targeted NGS has the lowest limit of detection at 1% mutation burden.
ISSN:	0145-2126 1873-5835