Inactivating BTK mutations in large B-cell lymphoma in a real-world cohort: Strong correlation with BCL2 translocation

Lone Schejbel; Marie Fredslund Breinholt; Anne Ortved Gang; Torsten Holm Nielsen; Lars Møller Pedersen; Estrid Høgdall; Peter Nørgaard

doi:10.1002/jha2.489

Inactivating BTK mutations in large B-cell lymphoma in a real-world cohort: Strong correlation with BCL2 translocation

EJHaem. 2022 Jun 24;3(3):936-939. doi: 10.1002/jha2.489. eCollection 2022 Aug.

Authors

Lone Schejbel¹, Marie Fredslund Breinholt², Anne Ortved Gang³, Torsten Holm Nielsen³, Lars Møller Pedersen⁴, Estrid Høgdall¹, Peter Nørgaard¹

Affiliations

¹ Department of Pathology Copenhagen University Hospital Herlev Denmark.
² Department of Pathology Copenhagen University Hospital Rigshospitalet Denmark.
³ Department of Haematology Copenhagen University Hospital Rigshospitalet Denmark.
⁴ Department of Haematology Zealand University Hospital Roskilde Denmark.

Abstract

Inactivating mutations in Bruton's tyrosine kinase (BTK) in patients with follicular lymphoma (FL) have recently been reported. These mutations were found in BTK inhibitor-treatment naïve patients. Here, we report the BTK mutation status in a real-world cohort of patients with non-Hodgkin lymphoma. We found primary BTK mutations in 7.7% of patients with large B-cell lymphoma (LBCL) and in 14.1% of patients with FL. All patients with BTK-mutated LBCL were BCL2 translocation positive, and the correlation between BCL2 translocation and BTK mutation persisted even when patients with known transformation from FL were excluded.

Keywords: BTK; molecular pathology; non‐Hodgkin lymphoma.