Case Report

An unusual clonal chromosome abnormality der(17)t(11;17)(q24;p13)inv(11)(q13;q23) in a patient with chronic lymphocytic leukemia

Valentina Monti*, Fabio Serpenti, Lucia Farina, Maria Luisa Moiraghi, Maria Adele Testi and Giancarlo Pruneri

Published: 10 November, 2021 | Volume 5 - Issue 2 | Pages: 028-031

Chronic Lymphocytic Leukemia (CLL) is a common clonal neoplasm of small, mature B-lymphocytes. CLL is a heterogeneous disease with different clinical presentation, response to treatment and survival. This heterogeneity could be explained by the different genetic aberrations in CLL [1]. The most important chromosomal defects correlated to a poor prognosis are 17p13.1 deletion (loss of TP53) or 11q22.3 deletion (loss of ATM) [1,2]. In the era of new drugs in CLL it is mandatory to perform the interphase fluorescence in situ hybridization (FISH) test in order to assess these aberrations, before starting any lines of therapy [3]. Moreover, recent evidence suggests that complex karyotype (CK) with structural chromosomal aberrations identified by using chromosome-banding analysis may be relevant to better define CLL prognosis. It is known that 80% of CLL patients harbor at cytogenetic aberrations [3].

Read Full Article HTML DOI: 10.29328/journal.acr.1001053 Cite this Article Read Full Article PDF


Der(17); CLL; Pseudocentric chromosome; FISH; Oncology


  1. Buccheri V, Barreto WG, Fogliatto LM, Capra M, Marchiani M. Prognostic and therapeutic stratification in CLL: focus on 17p deletion and p53 mutation. Ann Hematol. 2018; 97: 2269-2278. PubMed: https://pubmed.ncbi.nlm.nih.gov/30315344/
  2. Stankovic T, Skowronska A. The role of ATM mutations and 11q deletions in disease progression in chronic lymphocytic leukemia. Leuk Lymphoma. 2014; 55: 1227-1239. PubMed: https://pubmed.ncbi.nlm.nih.gov/23906020/
  3. Stilgenbauer S, Lichter P, Dohner H. Genetic features of B cell chronic Lympocytic leukemia. Rev Clin Exp Hematol. 2000; 4: 48-72. PubMed: https://pubmed.ncbi.nlm.nih.gov/11486330/
  4. Oliveira-Junior RJ, Filho LRG, Bastos LM, Alves DD, Vaz dos Santis S. Contribution of cytogenetics to cancer research. 2014; 30: 245-259.
  5. Barra V, Fachinetti D. The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA. Nat Commun. 2018; 9: 4340. PubMed: https://pubmed.ncbi.nlm.nih.gov/30337534/
  6. Khanna KK, Stephen PJ. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet. 2001; 27: 247-254. PubMed: https://pubmed.ncbi.nlm.nih.gov/11242102/
  7. Schaffner C, Idler I, Stilgenbauer S, Dohner H. Lichter P. Mantle cell lymphoma is characterized by inactivation of the ATM gene. Proc Natl Acad Sci USA. 2000; 97: 2773-2778. PubMed: https://pubmed.ncbi.nlm.nih.gov/10706620/
  8. Shaffer LG, McGowan-Jordan J, Schmid M. An International System for Human Cytogenetic Nomenclature (ISCN). Basel. 2013.


Figure 1

Figure 1

Figure 1

Figure 2

Figure 1

Figure 3

Similar Articles

Recently Viewed

Read More

Most Viewed

Read More