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

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

2020Cell Reports Medicine22 citationsDOIOpen Access PDF

Abstract

causes elevated CXXC4 and reduced TET2 protein levels in murine AML samples. Expression of multiple pro-inflammatory pathways is elevated in mouse AML and human SCN-AML, suggesting that inflammation driven by downregulation of TET2 activity is a critical step in the malignant transformation of SCN.

Topics & Concepts

Congenital NeutropeniaRUNX1Myeloid leukemiaHaematopoiesisNeutropeniaCancer researchMyeloidLeukemiaImmunologyMedicineBiologyStem cellGeneticsInternal medicineChemotherapyBlood disorders and treatmentsAcute Myeloid Leukemia ResearchImmunodeficiency and Autoimmune Disorders