Vol 13, No 1 (2022)
Review paper
Published online: 2022-05-20

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IGHV mutational status and the choice of first-line therapy for patients with chronic lymphocytic leukaemia

Bartosz Puła1, Krzysztof Jamroziak2, Tomasz Wróbel3, Krzysztof Giannopoulos45, Iwona Hus1
Hematology in Clinical Practice 2022;13(1):7-14.


Chronic lymphocytic leukaemia (CLL) is an incurable lymphoid malignancy with a heterogeneous clinical course varying from relatively indolent cases characterized by long survival to more aggressive and treatment-resistant ones. Findings from randomized clinical trials and long-lasting retrospective observations have shown that somatic hypermutation (SHM) status of the immunoglobulin heavy chain variable gene (IGHV) comprising the B cell receptor (BCR) plays a significant prognostic and predictive role in patients with CLL. According to the current international and Polish guidelines, assessment of IGHV mutational status should be mandatory at first-line treatment initiation in addition to p53 pathway defects and comorbidities for therapy allocation. This review describes the rationale for IGHV mutational status assessment as well as discusses its prognostic role in patients with CLL in the first-line setting.

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