Skip to main content


  • Case Report
  • Open Access

Polyploidy in chronic lymphocytic leukemia with p53 deletion detected by fish: a case report

Cases Journal20092:8872

  • Received: 4 August 2009
  • Accepted: 20 August 2009
  • Published:


We report a case of chronic lymphocytic leukemia with a characteristic cytogenetics finding detected by fluorescent in situ hybridization. This case has deletion in p53 gene in 50% of interphase nuclei studied in the peripheral blood and polyploidy in 30% of cells. To our knowledge polyploidy is not commonly reported with chronic lymphocytic leukemia patients.


  • Chronic Lymphocytic Leukemia
  • Interphase Nucleus
  • Chronic Lymphocytic Leukemia Patient
  • Chromosome Band 17p13
  • Lymphocytic Leukemia Patient


Chronic lymphocytic leukemia (CLL) is a hematopoietic neoplasm of B-lymphocytes found in the peripheral blood, bone marrow, and/or lymph nodes [1]. CLL is the most common leukemia of adults [2]. Cytogenetic study is useful in predicting clinical outcome. Abnormalities of chromosomes 11 and 17 are associated with poor prognosis; deletion of 13q is said to have a good prognosis. Patients are usually asymptomatic at presentation. Many cases present incidentally with peripheral blood lymphocytosis. Approximately 80% of patients have associated lymphadenopathy; approximately 50% will have an enlarged liver and/or spleen [3].

Loss of tumor protein 53 (TP53) has been associated withaggressive disease and poor response to therapy in B-cell chronic lymphocytic leukemia (B-CLL). TP53 is located at chromosome band 17p13 and its absence can be detected by fluorescence in situ hybridization (FISH) in the interphase nuclei of 8-10% patients with B-CLL [4, 5]. Previous studies showed that p53 plays a central role in G1 and DNA damage checkpoints, thus contributing to genomic stability [6].

Case presentation

A 60-year Egyptian female presented with splenomegaly and lymphadenopathy. The laboratory tests showed Hb: 11 g/dL, TLC: 12 × 109/L, PLT: 130 × 109/L, absolute lymphocyte: 8 × 109/L, relative lymphocyte: 73 × 109/L, bone marrow lymphocyte: 78 × 106/mL. Biochemical test revealed slight increase in the lactic dehydrogenase (LDH): 260 IU/l (normal up to 240 IU/L) and Ca: 7.5 mg/dL. The lymphocytes of the bone marrow express an immunophenotype suggestive of B-cell lymphoproliferative type. The immunophenotype of leukemic cells was CD19: 68%, CD22: 60%, CD22: 57%, CD23: 52%, CD79b: 58.5%. The myeloid markers were negative. Also HLA-DR was 71% and CD38 was 58.2%.

The cytogenetic analysis of the peripheral blood revealed unsuccessful culture for chromosomal study. FISH study was done using (DLEU (13q14)/p53 (17p13) red/green Kreatech) probe, the FISH revealed deletion in p53 in 50% of cells, and 3-5 copies of 13q14 in 30% of cells. First, it was thought that there is gene amplification in this region, which is a very rare finding. So, FISH study was done using (Sub Telomere 13qter green) probe to exclude polosomy. This also revealed 3-5 signals in 30% of cells. Then polyploidy was suggested and confirmed by (Sub Telomere 1pter green) which also gave 3-5 copies of 13q14 in 30% of cells.


Polyploidy could be explained by the deletion in the p53 gene which is essential in the regulation of cell cycle and mitotic division. There is much evidence linking p53 and development of polyploidy [7]. Recently, it was shown that the transcriptional induction of p53 by mitotic checkpoint activation is essential in protecting cells from developing abnormal levels of chromosome ploidy caused by mitotic failure. Studies have shown that p53 deficiencies induce insufficient mitosis arrest, compromise apoptosis, and can cause profound aneuploidy. Despite this, the molecular mechanisms implicating p53 mitotic regulation with a chromosomal instability phenotype is not yet clearly demonstrated. However, this might be accompanied by other gene deletion such as p73 that is also key regulatory genes in between chromosomal instability and cancer development. It should be realized that p53 defects could lead to highly unstable karyotypes that might ultimately push cells towards malignant transformation (6). Moreover, CLL patients with P53 gene deletion progress rapidly, respond poorly to therapy, and do not survive for long [8, 9].


In conclusion, the genetic instability is caused by deletion in the p53 gene, the factor that led to excessive DNA replication. To our knowledge polyploidy is not commonly reported with CLL patients.

Patient's perspective

I suffered from leukemia, and then I was referred to do cytogenetic analysis which revealed a chromosomal defect. Then I was given genetic counseling and was told that I need follow up.
Figure 1
Figure 1

Deletion in p53 (green) and multiple copies of 13q14 (red).

Figure 2
Figure 2

4 signals of sub telomere 1p.

Figure 3
Figure 3

Five copies of sub telomere 13q.




B-cell chronic lymphocytic leukemia


chronic lymphocytic leukemia


fluorescence insitu hybridization




lactic dehydrogenase




Authors’ Affiliations

Department of Cytogenetics, National Research Centre, El-Tahreer Street, Dokki, Cairo, Egypt
Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, El-Tahreer Street, Dokki, Cairo, Egypt


  1. Müller-Hermelink HK, Montserrat E, Catovsky D, Harris NL: Pathology and genetics of tumours of the haematopoietic and lymphoid tissues: World Health Organization classification of tumours: pathology and genetics. Edited by: Jaffe ESHarris NLStein HVardiman JW. 2001, IARC Press, 127-130.Google Scholar
  2. O'Brien SM, Kantarjian H, Thomas DA, Giles FJ, Freireich EJ, Cortes J, Lerner S, Keating MJ: Rituximab dose-escalation trial in chronic lymphocytic leukemia. J Clin Oncol. 2001, 19: 2165-2170.PubMedGoogle Scholar
  3. Glassman AB, Hayes KJ: The value of fluorescence in situ hybridization in the diagnosis and prognosis of chronic lmphocytic leukemia. Cancer Genet Cytogenet. 2005, 158: 88-91. 10.1016/j.cancergencyto.2004.08.012.View ArticlePubMedGoogle Scholar
  4. Dohner H, Stilgenbauer S, Benner A, Leupolt E, Krober A, Bullinger L, Dohner K, Bentz M, Lichter P: Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med. 2000, 343: 1910-1916. 10.1056/NEJM200012283432602.View ArticlePubMedGoogle Scholar
  5. Dewald GW, Brockman SR, Paternoster SF, Bone ND, O'Fallon JR, Allmer C, James CD, Jelinek DF, Tschumper RC, Hanson CA, Pruthi RK, Witzig TE, Call TG, Kay NE: Chromosome anomaliesdetected by interphase fluorescence in situ hybridization: correlation with significant biological features of B-cell chronic lymphocytic leukaemia. Br J Haematol. 2003, 121: 287-295. 10.1046/j.1365-2141.2003.04265.x.View ArticlePubMedGoogle Scholar
  6. Tomasini R, Mak TW, Melino G: The impact of p53 and p73 on aneuploidy and cancer. Trends in Cell Biology. 2008, 18: 244-252. 10.1016/j.tcb.2008.03.003.View ArticlePubMedGoogle Scholar
  7. Duensing A, Duensing S: Guilt by association? P53 and the development of aneuploidy in cancer. Biochem Biophys Res Commun. 2005, 331: 694-700. 10.1016/j.bbrc.2005.03.157.View ArticlePubMedGoogle Scholar
  8. Wei Xu, Jian-Yong Li, Yu-Jie Wu, Hui Yu, Qiu-Dan Shen, Li Li, Lei Fan Hong-Xia Qiu: Prognostic significance of ATM and TP53 deletions in Chinese patients with chronic lymphocytic leukemia. Leuk Res. 2008, 32: 1071-1077. 10.1016/j.leukres.2007.10.009.View ArticleGoogle Scholar
  9. Dicker F, Herholz H, Schnittger S, Nakao A, Patten N, Wu L, Kern W, Haferlach T, Haferlach C: The detection of TP53 mutations in chronic lymphocytic leukemia independently predicts rapid disease progression and is highly correlated with a complex aberrant karyotype. Leukemia. 2009, 23: 117-124. 10.1038/leu.2008.274.View ArticlePubMedGoogle Scholar


© Eid et al.; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.