Measurement of Immunoglobulin Intraclonal diversification refines the clinical impact of IGHV mutational status in chronic lymphocytic leukemia.

doi:10.1038/s41375-025-02650-2

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Measurement of Immunoglobulin Intraclonal diversification refines the clinical impact of IGHV mutational status in chronic lymphocytic leukemia.

Leukemia - 1 Aug 2025

Vit Filippo, Bittolo Tamara, Zucchetto Antonella, Papotti Robel, Tissino Erika, Pozzo Federico, Gaglio Annalisa, Stacchetti Andrea, Zaina Eva, Cattarossi Ilaria, Varaschin Paola, Nanni Paola, Berton Michele, Braida Alessandra, Rossi Francesca Maria, Degan Massimo, Polesel Jerry, Laureana Roberta, Chiarenza Annalisa, Olivieri Jacopo, Biagi Annalisa, D'Arena Giovanni, Rossi Marco, Laurenti Luca, Tafuri Agostino, Bulian Pietro, Zamò Alberto, Leich Ellen, Rosenwald Andreas, Arons Evgeny, Kreitman Robert, Gentile Massimo, Postorino Massimiliano, Zaja Francesco, Di Raimondo Francesco, Del Principe Maria Ilaria, Gattei Valter, Bomben Riccardo

Abstract excerpt

Chronic lymphocytic leukemia (CLL) cells may bear mutations in IGHV genes, the 2%-cutoff allowing to discriminate two subsets, unmutated (U)- or mutated (M)-CLL, with different clinical course. IGHV genes may also incorporate additional ongoing mutations, a phenomenon known as intraclonal diversification (ID). Here, through an original bioinformatic workflow for NGS data, we used the inverse Simpson Index (iSI)...

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PMID: 40533497
DOI: 10.1038/s41375-025-02650-2
PMCID: PMC12310548

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