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Article

Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia.

Experimental hematology - 1 Sept 2017

Sloma Ivan, Mitjavila-Garcia Maria Teresa, Feraud Olivier, Griscelli Frank, Oudrhiri Noufissa, El Marsafy Sanaa, Gobbo Emilie, Divers Dominique, Proust Alexis, Smadja David M, Desterke Christophe, Carles Annaick, Ma Yusanna, Hirst Martin, Marra Marco A, Eaves Connie J, Bennaceur-Griscelli Annelise, Turhan Ali G

Abstract excerpt

We report here the first use of whole-genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML), who presented in chronic phase (CP) with doubly marked BCR-ABL1+/JAK2V617F-mutant cells and, over a 9-year period, progressed into an accelerated phase (AP) and then terminal blast phase (BP). WGS revealed that the diagnostic cells also contained mutations...

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Source

Identifiers

PMID: 28602946
DOI: 10.1016/j.exphem.2017.05.007

Genes

ABL1
BCR
ASXL1
JAK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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