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2022-10-09

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cc by- nc (c) Moreno, David F., et al., 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/194262

Prognostic impact of MYD88 and CXCR4 mutations assessed by droplet digital polymerase chain reaction in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenstrom macroglobulinaemia

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https://doi.org/10.1111/bjh.18502

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Waldenstrom macroglobulinaemia (WM) is characterized by recurrent somatic mutations in MYD88 and CXCR4 genes. However, limitations arise when analysing these mutations in IgM monoclonal gammopathy of undetermined significance (MGUS) or smouldering WM (SWM) given the lower tumour load. Here, we used droplet digital polymerase chain reaction (ddPCR) to analyse MYD88 L265P and CXCR4 S338* mutations (C1013G and C1013A) in unsorted bone marrow (BM) or cell-free DNA (cfDNA) samples from 101 IgM MGUS and 69 SWM patients. ddPCR was more sensitive to assess MYD88 L265P compared to allele-specific PCR, especially in IgM MGUS (64% vs 39%). MYD88 mutation burden correlated with other laboratory biomarkers, particularly BM infiltration (r = 0.8; p < 0.001). CXCR4 C1013G was analysed in MYD88-mutated samples with available genomic DNA and was detected in 19/54 (35%) and 18/42 (43%) IgM MGUS and SWM cases respectively, also showing correlation with BM involvement (r = 0.9; p < 0.001). ddPCR also detected 8 (38%) and 10 (63%) MYD88-mutated cfDNA samples in IgM MGUS and SWM respectively. Moreover, high BM mutation burden (>= 8% MYD88 and >= 2% CXCR4) was associated with an increased risk of progression to symptomatic WM. We show the clinical applicability of ddPCR to assess MYD88 and CXCR4 in IgM MGUS and SWM and provide a molecular-based risk classification.

Matèries

Mutació (Biologia), Reacció en cadena de la polimerasa, Impacte

Matèries (anglès)

Mutation (Biology), Polymerase chain reaction, Impact

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Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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MORENO, David f., LÓPEZ-GUERRA, Mónica, PAZ, Sara, OLIVER CALDÉS, Aina, MENA, Mari-pau, CORREA, Juan carlos, BATTRAM, Anthony m., OSUNA, Miguel, RIVAS DELGADO, Alfredo, RODRÍGUEZ LOBATO, Luis gerardo, CARDÚS, Oriol, TOVAR, Natalia, CIBEIRA LÓPEZ, M. teresa, JIMÉNEZ, Raquel, BLADÉ, J. (joan), ROSIÑOL DACHS, Laura, COLOMER PUJOL, Dolors, FERNÁNDEZ DE LARREA RODRÍGUEZ, Carlos josé. Prognostic impact of MYD88 and CXCR4 mutations assessed by droplet digital polymerase chain reaction in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenstrom macroglobulinaemia. _British Journal of Haematology_. 2022. Vol. 200, núm. 2, pàgs. 187-196. [consulta: 28 de gener de 2026]. ISSN: 0007-1048. [Disponible a: https://hdl.handle.net/2445/194262]

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