دورية أكاديمية
Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype ; Brza progresija hronične limfocitne leukemije u Rihterov sindrom kod bolesnika sa kariotipom blizu triploidnog broja hromozom
| العنوان: | Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype ; Brza progresija hronične limfocitne leukemije u Rihterov sindrom kod bolesnika sa kariotipom blizu triploidnog broja hromozom |
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| المؤلفون: | Denčić-Fekete, Marija, Terzić, Tatjana, Jaković, Ljubomir, Đurašinović, Vladislava, Karan-Đurašević, Teodora, Radojković, Milica, Pavlović, Sonja, Bogdanović, Andrija |
| المصدر: | Vojnosanitetski pregled |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | kariotip, abnormalni, hronična limfocitna leukemija, bolest, progresija, određvanje, rihterov sindrom |
| الوصف: | 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. ; Uvod. Prisustvo aneuploidije kod bolesnika sa dijagnozom hronične limfocitne leukemije (HLL), sa izuzetkom trizomije 12, smatra se retkom pojavom. Pojava hiperdiploidnog ili kariotipa blizu tetraploidnog broja hromozoma (koji se javlja kod 1–3% svih bolesnika sa HLL) smatra se lošim prognostičkim parametrom. Prikaz bolesnika. Prikazan je bolesnik u uznapredovaloj fazi HLL sa kariotipom blizu triploidnog broja hromozoma. Prognoza bolesti je preciznije određena citogenetičkom analizom kariotipa bolesnika, i dopunjena molekularnim metodama i patohistološkom analizom. Otkriveno je prisustvo kompleksnog kariotipa udruženog sa poremećajima u genima TP53, C-MYC i IGH, što je najverovatnije bio uzrok brze progresije u Rihterov sindrom. Zaključak. Primena savremenih dijagnostičkih metoda veoma je značajna kod bolesnika u uznapredovaloj fazi HLL, prvenstveno zbog adekvatnog terapijskog pristupa. Prikazani slučaj ukazuje da je prisustvo aneuploidije ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| تدمد: | 0042-8450 |
| العلاقة: | 2406-0720(Online); https://doiserbia.nb.rs/Article.aspx?ID=0042-84502200060DTest; https://imagine.imgge.bg.ac.rs/handle/123456789/2191Test; https://imagine.imgge.bg.ac.rs/bitstream/id/448640/bitstream_448640.pdfTest; 2-s2.0-85164261947 |
| DOI: | 10.2298/VSP211111060D |
| الإتاحة: | https://doi.org/10.2298/VSP211111060DTest https://imagine.imgge.bg.ac.rs/handle/123456789/2191Test https://imagine.imgge.bg.ac.rs/bitstream/id/448640/bitstream_448640.pdfTest |
| حقوق: | openAccess ; https://creativecommons.org/licenses/by-sa/4.0Test/ ; BY-SA |
| رقم الانضمام: | edsbas.22C82F65 |
| قاعدة البيانات: | BASE |
| تدمد: | 00428450 |
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| DOI: | 10.2298/VSP211111060D |