Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype
Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a pr...
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| Format: | Article |
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Military Health Department, Ministry of Defance, Serbia
2023-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200060D.pdf |
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| author | Denčić-Fekete Marija Terzić Tatjana Jaković Ljubomir Đurašinović Vladislava Đurašević-Karan Teodora Radojković Milica Pavlović Sonja Bogdanović Andrija |
| author_facet | Denčić-Fekete Marija Terzić Tatjana Jaković Ljubomir Đurašinović Vladislava Đurašević-Karan Teodora Radojković Milica Pavlović Sonja Bogdanović Andrija |
| author_sort | Denčić-Fekete Marija |
| collection | DOAJ |
| description | Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a progressive phase of CLL with near–triploid karyotype. The prognosis of the disease was more precisely determined by applying the cytogenetic analysis of the karyotype and was complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied by the TP53, C-MYC, and IGH gene disruptions, the most probable cause of rapid evolution into Richter’s syndrome. Conclusion. The use of comprehensive contemporary diagnostic techniques is highly recommended in patients who are in the progressive phase of CLL, primarily for the adequate choice of management strategy. The presented case confirms that aneuploidy in CLL patients indicates poor prognosis, which is in accordance with previous publications reporting on cases of CLL patients with aneuploidy. |
| first_indexed | 2024-03-13T06:23:53Z |
| format | Article |
| id | doaj.art-86e9c41fc4f9458b828d3320bc0a013e |
| institution | Directory Open Access Journal |
| issn | 0042-8450 2406-0720 |
| language | English |
| last_indexed | 2024-03-13T06:23:53Z |
| publishDate | 2023-01-01 |
| publisher | Military Health Department, Ministry of Defance, Serbia |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj.art-86e9c41fc4f9458b828d3320bc0a013e2023-06-09T10:45:01ZengMilitary Health Department, Ministry of Defance, SerbiaVojnosanitetski Pregled0042-84502406-07202023-01-0180545445710.2298/VSP211111060D0042-84502200060DRapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotypeDenčić-Fekete Marija0Terzić Tatjana1https://orcid.org/0000-0001-5868-0422Jaković Ljubomir2https://orcid.org/0000-0003-2400-0112Đurašinović Vladislava3Đurašević-Karan Teodora4Radojković Milica5Pavlović Sonja6Bogdanović Andrija7https://orcid.org/0000-0002-8288-7308University of Belgrade, Faculty of Medicine, Belgrade, Serbia + University of Belgrade, Institute for Pathology “Dr. Djordje Joannović”, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University of Belgrade, Institute for Pathology “Dr. Djordje Joannović”, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University Clinical Center, Clinic of Hematology, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University Clinical Center, Clinic of Hematology, Belgrade, SerbiaUniversity of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + Clinical Hospital Center “Dr. Dragiša Mišović –Dedinje”, Clinic of Internal Medicine, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Belgrade, SerbiaUniversity of Belgrade, Faculty of Medicine, Belgrade, Serbia + University Clinical Center, Clinic of Hematology, Belgrade, SerbiaIntroduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a progressive phase of CLL with near–triploid karyotype. The prognosis of the disease was more precisely determined by applying the cytogenetic analysis of the karyotype and was complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied by the TP53, C-MYC, and IGH gene disruptions, the most probable cause of rapid evolution into Richter’s syndrome. Conclusion. The use of comprehensive contemporary diagnostic techniques is highly recommended in patients who are in the progressive phase of CLL, primarily for the adequate choice of management strategy. The presented case confirms that aneuploidy in CLL patients indicates poor prognosis, which is in accordance with previous publications reporting on cases of CLL patients with aneuploidy.https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200060D.pdfabnormal karyotypechronic lymphocytic leukemiadisease progressionkaryotypingrichter’s syndrome |
| spellingShingle | Denčić-Fekete Marija Terzić Tatjana Jaković Ljubomir Đurašinović Vladislava Đurašević-Karan Teodora Radojković Milica Pavlović Sonja Bogdanović Andrija Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype Vojnosanitetski Pregled abnormal karyotype chronic lymphocytic leukemia disease progression karyotyping richter’s syndrome |
| title | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype |
| title_full | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype |
| title_fullStr | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype |
| title_full_unstemmed | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype |
| title_short | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype |
| title_sort | rapid progression to richter s syndrome in a patient with chronic lymphocytic leukemia and near triploid karyotype |
| topic | abnormal karyotype chronic lymphocytic leukemia disease progression karyotyping richter’s syndrome |
| url | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200060D.pdf |
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