Drivers underpinning the malignant transformation of giant cell tumour of bone

Matthew W. Fittall; Iben Lyskjær; Peter Ellery; Patrick Lombard; Jannat Ijaz; Anna‐Christina Strobl; Dahmane Oukrif; Maxime Tarabichi; Martin Sill; Christian Koelsche; Gunhild Mechtersheimer; Jonas Demeulemeester; Roberto Tirabosco; Fernanda M Amary; Peter J. Campbell; Stefan Michael Pfister; David Jones; Nischalan Pillay; Peter Van Loo; Sam Behjati; Adrienne Margaret Flanagan

doi:10.1002/path.5537

Genetic & Genomic MedicineThe Journal of PathologyAug 31, 2020

Peer-reviewed journal article

Drivers underpinning the malignant transformation of giant cell tumour of bone

Matthew W. Fittall iD, Iben Lyskjær iD, Peter Ellery iD, Patrick Lombard, Jannat Ijaz iD, Anna‐Christina Strobl, Dahmane Oukrif iD, Maxime Tarabichi iD, Martin Sill iD, Christian Koelsche iD, Gunhild Mechtersheimer iD, Jonas Demeulemeester iD, Roberto Tirabosco iD, Fernanda M Amary iD, Peter J. Campbell iD, Stefan Michael Pfister iD, David Jones iD, Nischalan Pillay iD, Peter Van Loo iD, Sam Behjati iD, Adrienne Margaret Flanagan iD

Abstract

The rare benign giant cell tumour of bone (GCTB) is defined by an almost unique G34W oncohistone mutation in the H3.3 histone gene. Here we reveal the genomic and methylation patterns underlying the rare clinical phenomena of benign metastases and malignant transformation of GCTB.

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