Background: To determine the immunoglobulin variable heavy chain (IgVH) gene usage and somatic mutation patterns in a series of SMZL patients and to correlate these findings with the clinical features and outcome.
Patients And Methods: IgVH genes were amplified and sequenced from 22 SMZL cases. Clinical and laboratory data of these patients were recorded.
Results: A biased usage of IgVH gene was found with overrepresentation of VH3 in 16/22 cases. A total of 13/22 (59%) of cases were found to have mutated IgVH genes, whereas 9/22 (41%) were unmutated. Positive antigen selection process was identified in two cases. Treatment was different between the cases with mutation and those without. No differences in clinical and laboratory characteristics, or survival were found between the mutated and unmutated cases.
Conclusion: SMZL are characterized by marked molecular heterogeneity. A biased usage of certain sequences suggests antigen selection. Prognostic significance of mutational status was not confirmed in this study. However further studies are needed in order to confirm these results.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Recent Advances in the Molecular Biology of Chronic Lymphocytic Leukemia: How to Define Prognosis and Guide Treatment.
Cancers (Basel)
October 2024
Hematology Unit, Ospedale Guglielmo da Saliceto, Azienda USL di Piacenza, 29100 Piacenza, Italy.
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 (), FISH analysis and molecular evaluation of mutations.
View Article and Find Full Text PDFMicroRNA Profiling as a Predictive Indicator for Time to First Treatment in Chronic Lymphocytic Leukemia: Insights from the O-CLL1 Prospective Study.
Noncoding RNA
August 2024
Molecular Pathology Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
A "watch and wait" strategy, delaying treatment until active disease manifests, is adopted for most CLL cases; however, prognostic models incorporating biomarkers have shown to be useful to predict treatment requirement. In our prospective O-CLL1 study including 224 patients, we investigated the predictive role of 513 microRNAs (miRNAs) on time to first treatment (TTFT). In the context of this study, six well-established variables (i.
View Article and Find Full Text PDFArticle Synopsis
- * Out of 75 patients with successful BCR expression, a significant majority had mutated immunoglobulin heavy chains (IgVH), and a subgroup of 12 patients showed a highly dominant BCR clone associated with worse clinical outcomes.
- * The results indicated that high clonal dominance correlates with reduced BCR diversity and increased expression of specific genes, leading to poorer progression-free survival (PFS) and overall survival (OS) rates, corroborated by an independent patient cohort analysis.
[Mutational features of immunoglobulin heavy chain variable region gene in patients with chronic lymphocytic leukemia].
Zhonghua Bing Li Xue Za Zhi
November 2022
Tianjin Sino-US Diagnostics Laboratory, Tianjin Enterprise Key Laboratory of AI-aided Hematopathology Diagnosis, Tianjin 300385, China.
To investigate the mutational features of the immunoglobulin heavy chain variable region (IgHV) gene in patients with chronic lymphocytic leukemia (CLL) using immunophenotypic and molecular genetic methods. The laboratory results of 266 CLL patients who underwent IgHV gene examination at Sino-US diagnostics laboratory from February 2020 to February 2021 were analyzed for the IgVH mutational status and presence of specific IgVH fragments. In addition, their immunophenotypic, molecular, chromosomal karyotypic, and FISH profiles were investigated and correlated with the IgVH mutational status.
View Article and Find Full Text PDFSmudge cells percentage on blood smear is a reliable prognostic marker in chronic lymphocytic leukemia.
Hematol Transfus Cell Ther
May 2021
University Paris Sarclay, Paris, France.
Objective: We evaluated the relevance of using the smudge cell percentage in the blood smear as a prognostic marker in CLL.
Methods: In this prospective study, 42 untreated Senegalese patients with CLL were enrolled. The diagnosis was established, based on the peripheral blood count and flow cytometry using the Matutes score.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!