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[Preprint]. 2024 Oct 11:2024.10.10.617685. [Version 1] doi: 10.1101/2024.10.10.617685

Targetable treatment resistance in thyroid cancer with clonal hematopoiesis

Vera Tiedje, Pablo Sánchez Vela, Julie L Yang, Brian R Untch, Laura Boucai, Aaron J Stonestrom, Alberto Bueno Costa, Sebastià Franch Expósito, Avi Srivastava, Marina Kerpelev, Jillian Greenberg, Mathew Wereski, Amanda Kulick, Kevin Chen, Tianyue Qin, Soo-Yeon Im, Aishwarya Krishnan, Anthony R Martinez Benitez, Raquel Pluvinet, Merve Sahin, Kamal Menghrajani, Gnana P Krishnamoorthy, Elisa de Stanchina, Ahmet Zehir, Rahul Satija, Jeffrey Knauf, Robert L Bowman, Manel Esteller, Sean Devlin, Michael F Berger, Richard P Koche, James A Fagin, Ross L Levine
PMCID: PMC11483059  PMID: 39415999

Abstract

Anaplastic thyroid cancer (ATC) is a clinically aggressive malignancy with a dismal prognosis. Combined BRAF/MEK inhibition offers significant therapeutic benefit in patients with BRAF V600E -mutant ATCs. However, relapses are common and overall survival remains poor. Compared with differentiated thyroid cancer, a hallmark of ATCs is significant infiltration with myeloid cells, particularly macrophages. ATCs are most common in the aging population, which also has an increased incidence of TET2 -mutant clonal hematopoiesis (CH). CH-mutant macrophages have been shown to accelerate CH-associated pathophysiology including atherosclerosis. However, the clinical and mechanistic contribution of CH-mutant clones to solid tumour biology, prognosis and therapeutic response has not been elucidated. Here we show that TET2 -mutant CH is enriched in the tumour microenvironment of patients with solid tumours and associated with adverse prognosis in ATC patients. We find that Tet2 -mutant macrophages selectively infiltrate mouse Braf V600E -mutant ATC and that their overexpression of Tgfβ-family ligands mediates resistance to BRAF/MEK inhibition. Importantly, inhibition of Tgfβ signaling restores sensitivity to MAPK pathway inhibition, opening a path for synergistic strategies to improve outcomes of patients with ATCs and concurrent CH.

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