Distinctive IGHV gene usage and stereotyped receptors in South American patients with chronic lymphocytic leukemia

Stanganelli, Carmen; Torres, Davi Coe; Ortega, Claudia; Sotelo, Natalia; Márquez, María Elena; Segges, Priscilla; Muniz, Maria Tereza Cartaxo; Bigni, Ricardo; Campregher, Paulo Vidal; Sabino, Adriano de Paula; Gomes, Caio Perez; deChauffaille, María Lourdes Lopes Ferrari; Rodrigues, Celso Arrais; Yamamoto, Masahiro; Abdelhay, Eliana; Cabrera, Juana; Deglesne, Pierre-Antoine; López, José Luis Bello; Galvano, C; Krzywinski, Andrea; Bezares, Raimundo F.; Lång, Cecilia; Zanella, Lorena; Agriello, Evangelina; Cabrejo, María; Gabús, Raúl; Dighiero, G; Oppezzo, Pablo; Hassan, Rocı́o; Slavutsky, Irma

doi:10.1002/hon.2661

Cited by 5 publications

(2 citation statements)

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“…IGHV rearrangements were evaluated in 22 patients, 72.7% of them showed U-IGHV, percentage signi cantly different with respect to our complete published series of CLL patients that showed 42% U-IGHV cases (p=0.009) [24]. No particular involvement of VH family or IGHV gene rearrangement was observed.…”

Section: Analysis Of Prognostic Factorsmentioning

confidence: 68%

Heterogeneity in BIRC3 and ATM Alterations in del(11q) Chronic Lymphocytic Leukemia

Galvano

Krzywinski

Stanganelli

et al. 2022

Preprint

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Deletion 11q22 [del(11q)] is among the most common chromosomal alteration in chronic lymphocytic leukemia (CLL). This anomaly is highly variable in size and may be distinguished in large and small deletions. The minimal deleted region on 11q usually includes ATM gene and can also encompass the BIRC3 locus, located 6 Mb centromeric to ATM, in approximately 80% of cases. In this study, we have evaluated BIRC3 and ATM losses and their association with adverse prognostic factors in CLL patients. Thirty-three out of 200 patients (16.5%) sequentially studied in our laboratory harbored del(11q). Our study shows a predominant presence of concomitant ATM and BIRC3 deletions but with differences in the percentage of abnormal cells: 54.5% of cases had similar ATM and BIRC3 percentages, 9.1% showed higher frequency of ATM deletion and 21.2% increased percentage of BIRC3 loss, indicating clonal evolution. Interestingly, 9.1% patients presented only BIRC3 deletion and 6.1% cases showed only ATM loss, suggesting the inclusion of BIRC3 analysis in the routine FISH laboratory screening. A strong association between ATM and BIRC3 deletions with TP53 loss (48.5%), complex karyotypes (36%), unmutated IGHV (72.7%) and intratumor heterogeneity (51.5% patients) was observed. A short time to first treatment (p<0.0001) in cases with del(11q) compared to patients with 13q14 deletion single and without cytogenetic alterations was also found, highlighting the increased genomic instability and poor outcome present in this subgroup of patients.

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Section: Analysis Of Prognostic Factorsmentioning

confidence: 68%

Heterogeneity in BIRC3 and ATM Alterations in del(11q) Chronic Lymphocytic Leukemia

Galvano

Krzywinski

Stanganelli

et al. 2022

Preprint

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“…Analysis using the Arrest/assign Tool here only involved 19 major subsets that account for approximately 13.5% of stereotyped BCRs. We speculated that the frequency of stereotyped BCR subsets in total CLL cases differed among ethnic groups and regions ( 36 – 38 ) or that there existed more nonmajor subsets that were not identified by the Arrest/assign Tool. The last limitation is the missing data on clinical outcomes and follow-up visits due to loss to follow-up caused by the long time-scale and relatively indolent progression of most CLL cases.…”

Section: Discussionmentioning

confidence: 99%

Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles

et al. 2023

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IntroductionSeveral prognostic factors of chronic lymphocytic leukemia (CLL) have been identified, such as cytogenetic aberrations and recurrent gene mutations. B-cell receptor (BCR) signaling plays an important role in the tumorigenesis of CLL, and its clinical significance in predicting prognosis is also under study.MethodsTherefore, we assessed the already-known prognostic markers, immunoglobulin heavy chain (IGH) gene usage and the associations among these factors in 71 patients diagnosed with CLL in our center from October 2017 to March 2022. Sequencing of IGH gene rearrangements was performed using Sanger sequencing or IGH-based next-generation sequencing, and the results were further analyzed for distinct IGH/IGHD/IGHJ genes and the mutational status of the clonotypic IGHV (IGH variable) gene.ResultsIn summary, by analyzing the distribution of potential prognostic factors in CLL patients, we displayed a landscape of molecular profiles, confirmed the predictive value of recurrent genetic mutations and chromosome aberrations, and found that IGHJ3 was associated with favorable markers (mutated IGHV, trisomy 12), while IGHJ6 tended to correlate with unfavorable factors (unmutated IGHV, del17p).DiscussionThese results provided an indication for IGH gene sequencing in predicting the prognosis of CLL.

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Somatic hypermutation profiles in stereotyped IGHV4-34 receptors from South American chronic lymphocytic leukemia patients

et al. 2021

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Distinctive IGHV gene usage and stereotyped receptors in South American patients with chronic lymphocytic leukemia

Cited by 5 publications

References 10 publications

Heterogeneity in BIRC3 and ATM Alterations in del(11q) Chronic Lymphocytic Leukemia

Heterogeneity in BIRC3 and ATM Alterations in del(11q) Chronic Lymphocytic Leukemia

Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles

Somatic hypermutation profiles in stereotyped IGHV4-34 receptors from South American chronic lymphocytic leukemia patients

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