Flow cytometry as a fast, cost-effective tool to assess <i>IGHV</i> mutational status in CLL

Couillez, Guillaume; Morel, Pierre; Clichet, Valentin; Fourdrain, Ludivine; Delette, Caroline; Harrivel, Véronique; Gubler, Brigitte; Rottier, Camille; Derreumaux, Sophie; Margat, Emilie; Garçon, Loïc; Marolleau, Jean‐Pierre; Boyer, Thomas D.

doi:10.1182/bloodadvances.2022008033

Cited by 1 publication

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“…New techniques are currently being explored in case molecular biology cannot be performed, such as multiparametric flow cytometry, with encouraging preliminary results. 15 Beyond mutation status, selective usage of individual IGHV genes has also been described in CLL, with a different distribution among gene rearrangements between different countries and an overuse of certain genes. For instance, IGHV3 is the most frequent subgroup followed by IGHV1 in Mediterranean countries, while IGHV4 is more prevalent in China.…”

Section: Introductionmentioning

confidence: 99%

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Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting

Muñoz-Novas,

González-Gascón-y-Marín,

Figueroa

et al. 2024

Glob Med Genet

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Immunoglobulin heavy chain variable (IGHV) region mutations, TP53 mutation, fluorescence in situ hybridization (FISH), and cytogenetic analysis are the most important prognostic biomarkers used in chronic lymphocytic leukemia (CLL) patients in our daily practice. In real-life environment, there are scarce studies that analyze the correlation of these factors with outcome, mainly referred to time to first treatment (TTFT) and overall survival (OS). This study aimed to typify IGHV mutation status, family usage, FISH aberrations, and complex karyotype (CK) and to analyze the prognostic impact in TTFT and OS in retrospective study of 375 CLL patients from a Spanish cohort. We found unmutated CLL (U-CLL) was associated with more aggressive disease, shorter TTFT (48 vs. 133 months, p < 0.0001), and shorter OS (112 vs. 246 months, p < 0.0001) than the mutated CLL. IGHV3 was the most frequently used IGHV family (46%), followed by IGHV1 (30%) and IGHV4 (16%). IGHV5-51 and IGHV1-69 subfamilies were associated with poor prognosis, while IGHV4 and IGHV2 showed the best outcomes. The prevalence of CK was 15% and was significantly associated with U-CLL. In the multivariable analysis, IGHV2 gene usage and del13q were associated with longer TTFT, while VH1-02, +12, del11q, del17p, and U-CLL with shorter TTFT. Moreover, VH1-69 usage, del11q, del17p, and U-CLL were significantly associated with shorter OS. A comprehensive analysis of genetic prognostic factors provides a more precise information on the outcome of CLL patients. In addition to FISH cytogenetic aberrations, IGHV and TP53 mutations, IGHV gene families, and CK information could help clinicians in the decision-making process.

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Section: Introductionmentioning

confidence: 99%

“…New techniques are currently being explored in case molecular biology cannot be performed, such as multiparametric flow cytometry, with encouraging preliminary results. 15 …”

Section: Introductionmentioning

confidence: 99%