Spotlight on borderline-IGHV mutational status in chronic lymphocytic leukemia

Rammal, Souraya; Semaan, Warde; Aprahamian, Natalia; Moussallem, Romy; Chebly, Alain

doi:10.3389/fonc.2024.1430225

Front. Oncol.

2024

DOI: 10.3389/fonc.2024.1430225

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Spotlight on borderline-IGHV mutational status in chronic lymphocytic leukemia

Souraya Rammal,

Warde Semaan,

Natalia Aprahamian

et al.

Abstract: Mutated or unmutated immunoglobulin heavy chain (IGHV) gene is an important prognostic factor in chronic lymphocytic leukemia (CLL). However, a small fraction of patients with CLL are classified as borderline (BL)-IGHV. Few data are available on this subgroup of CLL. In this paper, we retrospectively report and analyze data from 21 patients with BL-IGHV CLL, showing the heterogeneity of this subgroup of CLL and paving the way for more research focusing on this entity to optimize the management and treatment of… Show more

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Cited by 2 publications

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Complex karyotypes in hematologic disorders: a 12-year single-center study from Lebanon

Rammal,

Abou Abdallah,

Attieh

et al. 2024

Front. Oncol.

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Conventional cytogenetic analysis is an important tool for the diagnosis of many hematologic disorders (HD). A karyotype is designed as « complex » when several alterations are detected. However, there is no clear consensus on the exact definition of a complex karyotype (CK), and there is a lack of studies that exclusively analyze CK in the literature. Complex karyotypes were analyzed over a period of 12 years at the Jacques Loiselet Center for Medical Genetics and Genomics (CGGM) at Saint Joseph University in Beirut (USJ) in Lebanon. 255 CK were analyzed with their associated chromosomal abnormalities (CA) detected. Out of 255 patients, 59.22% were males with a mean age of 59 years. The most common anomaly associated with CK was hyperdiploidy with a prevalence of 22.41%, which is different from a previously published study. To our knowledge, this represents the largest series of CK, particularly within the Middle East region. This study underscores the critical role of conventional cytogenetics in detecting CK, ultimately contributing to improved management of HD. Further investigations focusing on CK are needed.

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Complex karyotypes in hematologic disorders: a 12-year single-center study from Lebanon

Rammal,

Abou Abdallah,

Attieh

et al. 2024

Front. Oncol.

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Recent Advances in the Molecular Biology of Chronic Lymphocytic Leukemia: How to Define Prognosis and Guide Treatment

Arcari,

Morello,

Borotti

et al. 2024

Cancers

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Chronic Lymphocytic Leukemia (CLL) is the most frequent type of leukemia in Western countries. In recent years, there have been important advances in the knowledge of molecular alterations that underlie the disease’s pathogenesis. Very heterogeneous prognostic subgroups have been identified by the mutational status of immunoglobulin heavy variable genes (IGVH), FISH analysis and molecular evaluation of TP53 mutations. Next-generation sequencing (NGS) technologies have provided a deeper characterization of the genomic and epigenomic landscape of CLL. New therapeutic targets have led to a progressive reduction of traditional chemoimmunotherapy in favor of specific biological agents. Furthermore, in the latest clinical trials, the minimal residual disease (MRD) has emerged as a potent marker of outcome and a guide to treatment duration. This review focuses on recent insights into the understanding of CLL biology. We also consider the translation of these findings into the development of risk-adapted and targeted therapeutic approaches.

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Spotlight on borderline-IGHV mutational status in chronic lymphocytic leukemia

Cited by 2 publications

References 10 publications

Complex karyotypes in hematologic disorders: a 12-year single-center study from Lebanon

Complex karyotypes in hematologic disorders: a 12-year single-center study from Lebanon

Recent Advances in the Molecular Biology of Chronic Lymphocytic Leukemia: How to Define Prognosis and Guide Treatment

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