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Abstract
Presentation during EHA2022: All (e)Poster presentations will be made available as of Friday, June 10, 2022 (09:00 CEST) and will be accessible for on-demand viewing until Monday, August 15, 2022 on the Congress platform.

Abstract: P1113

Type: E-Poster Presentation

Session title: Indolent and mantle-cell non-Hodgkin lymphoma - Clinical

Background
Mantle cell lymphoma (MCL) – B-cell lymphoma with a high frequency of genome instability associated with a recurrent clinical course, short non-progressive and overall survival. Special attention is paid to the "double-hit" MCL (simultaneous presence of translocations of CCND1 and C-MYC genes), characterized mainly by a pleomorphic/blastoid morphological variant, refractory clinical course and unfavorable prognosis.

Aims
To identify the spectrum and frequency of occurrence of genetic anomalies and their effect on the course of MCL.

Methods

The results of a standard cytogenetic study (G-banding) in 51 and FISH studies in 75 patients with MCL are presented.

Results

In a standard cytogenetic study, a pathological karyotype was found in 25/51 (49,0%) patients. Translocation t(11;14)(q13;q32) was detected in 23/51 (45,1%) patients. As part of the complex karyotype, t(11;14) was determined in 16/51 (31,4%) cases. The FISH study made it possible to additionally identify genetic aberrations in patients with MCL. In patients with normal karyotype t(11;14) was found in 18/51 (35,3%) cases. C-MYC gene rearrangements were detected in 16/75 (21,3%) cases. In this group, genetic abnormalities were found in 7/11 (63,6%) patients (in 5 patients, mitoses were not obtained). In all patients t(11;14) was detected either as a single genetic aberration (in 1/7 (14,3%)) or as part of a complex karyotype (in 6/7 (85,7%)) in combination with genetic abnormalities 7 and 17 chromosomes. In 8/16 (50,0%) patients, C-MYC gene rearrangements were combined with a deletion of the TP53 gene. In 59/75 (78,7%) cases, C-MYC gene rearrangements were not detected. Chromosomal aberrations were found in 18/39 (46,2%) patients, including complex karyotype changes in 10/18 (55,6%) patients. Translocation t(11;14) - in 16/18 (88,9%) cases. TP53 gene deletion was detected in 10/59 (16,9%) patients. Data analysis showed a significant adverse effect of the complex karyotype, TP53 deletion, C-MYC rearrangement on the clinical course of MCL compared with the standard risk group. The median progression-free survival in high molecular risk patients was 12,5 months; the median progression-free survival was not achieved in the standard risk group.

Conclusion

An integrated approach to the genetic diagnosis of MCL using standard cytogenetic and FISH studies makes it possible to identify a high-risk group: "double-hit" and with complex changes in the karyotype. It was also shown that in the group of patients with changes in the C-MYC gene, additional genetic anomalies were more often detected, which are an unfavorable prognostic factor: a complex karyotype (the presence of three or more aberrations) – 37,5% and 16,9%, and aberrations involving the gene TP53 – 50,0% and 16,9%. Changes in these genes are associated with shorter progression-free survival rates.

Keyword(s): Genetic, Mantle cell lymphoma, Prognostic factor

Presentation during EHA2022: All (e)Poster presentations will be made available as of Friday, June 10, 2022 (09:00 CEST) and will be accessible for on-demand viewing until Monday, August 15, 2022 on the Congress platform.

Abstract: P1113

Type: E-Poster Presentation

Session title: Indolent and mantle-cell non-Hodgkin lymphoma - Clinical

Background
Mantle cell lymphoma (MCL) – B-cell lymphoma with a high frequency of genome instability associated with a recurrent clinical course, short non-progressive and overall survival. Special attention is paid to the "double-hit" MCL (simultaneous presence of translocations of CCND1 and C-MYC genes), characterized mainly by a pleomorphic/blastoid morphological variant, refractory clinical course and unfavorable prognosis.

Aims
To identify the spectrum and frequency of occurrence of genetic anomalies and their effect on the course of MCL.

Methods

The results of a standard cytogenetic study (G-banding) in 51 and FISH studies in 75 patients with MCL are presented.

Results

In a standard cytogenetic study, a pathological karyotype was found in 25/51 (49,0%) patients. Translocation t(11;14)(q13;q32) was detected in 23/51 (45,1%) patients. As part of the complex karyotype, t(11;14) was determined in 16/51 (31,4%) cases. The FISH study made it possible to additionally identify genetic aberrations in patients with MCL. In patients with normal karyotype t(11;14) was found in 18/51 (35,3%) cases. C-MYC gene rearrangements were detected in 16/75 (21,3%) cases. In this group, genetic abnormalities were found in 7/11 (63,6%) patients (in 5 patients, mitoses were not obtained). In all patients t(11;14) was detected either as a single genetic aberration (in 1/7 (14,3%)) or as part of a complex karyotype (in 6/7 (85,7%)) in combination with genetic abnormalities 7 and 17 chromosomes. In 8/16 (50,0%) patients, C-MYC gene rearrangements were combined with a deletion of the TP53 gene. In 59/75 (78,7%) cases, C-MYC gene rearrangements were not detected. Chromosomal aberrations were found in 18/39 (46,2%) patients, including complex karyotype changes in 10/18 (55,6%) patients. Translocation t(11;14) - in 16/18 (88,9%) cases. TP53 gene deletion was detected in 10/59 (16,9%) patients. Data analysis showed a significant adverse effect of the complex karyotype, TP53 deletion, C-MYC rearrangement on the clinical course of MCL compared with the standard risk group. The median progression-free survival in high molecular risk patients was 12,5 months; the median progression-free survival was not achieved in the standard risk group.

Conclusion

An integrated approach to the genetic diagnosis of MCL using standard cytogenetic and FISH studies makes it possible to identify a high-risk group: "double-hit" and with complex changes in the karyotype. It was also shown that in the group of patients with changes in the C-MYC gene, additional genetic anomalies were more often detected, which are an unfavorable prognostic factor: a complex karyotype (the presence of three or more aberrations) – 37,5% and 16,9%, and aberrations involving the gene TP53 – 50,0% and 16,9%. Changes in these genes are associated with shorter progression-free survival rates.

Keyword(s): Genetic, Mantle cell lymphoma, Prognostic factor

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