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Article

Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.

Cell reports. Medicine - 25 Aug 2020

Olofsen Patricia A, Fatrai Szabolcs, van Strien Paulina M H, Obenauer Julia C, de Looper Hans W J, Hoogenboezem Remco M, Erpelinck-Verschueren Claudia A J, Vermeulen Michael P W M, Roovers Onno, Haferlach Torsten, Jansen Joop H, Ghazvini Mehrnaz, Bindels Eric M J, Schneider Rebekka K, de Pater Emma M, Touw Ivo P

Abstract excerpt

Severe congenital neutropenia (SCN) patients treated with CSF3/G-CSF to alleviate neutropenia frequently develop acute myeloid leukemia (AML). A common pattern of leukemic transformation involves the appearance of hematopoietic clones with CSF3 receptor (CSF3R) mutations in the neutropenic phase, followed by mutations in RUNX1 before AML becomes overt. To investigate how the combination of CSF3 therapy and CSF3R...

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Source

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Identifiers

PMID: 33205068
DOI: 10.1016/j.xcrm.2020.100074
PMCID: PMC7659587

Genes

CSF3
CSF3R
RUNX1
CXXC4
TET2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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