CC BY-NC-ND 4.0 · South Asian J Cancer
DOI: 10.1055/s-0044-1790543
Original Article

The Prevalence of Cytogenetic Abnormalities Detected by Interphase FISH Method in Chronic Lymphocytic Leukemia

Shirin Azhdari
1   Department of Bacteriology and Virology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
,
Sadat Noori
2   Shiraz Molecular Pathology Research Center, DR. Daneshbod Pathology Laboratory, Shiraz, Iran
,
Khosrow Daneshbod
2   Shiraz Molecular Pathology Research Center, DR. Daneshbod Pathology Laboratory, Shiraz, Iran
,
Abolfazl Khalafi-Nezhad
3   Hematology Research Center, Department of Hematology, Medical Oncology and Stem Cell Transplantation, Shiraz University of Medical Sciences, Shiraz, Iran
,
Seyed Mohammad Ali Hashemi
1   Department of Bacteriology and Virology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
,
Zahra Faghih
4   Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences, Shiraz, Iran
,
Shirin Haghighat
3   Hematology Research Center, Department of Hematology, Medical Oncology and Stem Cell Transplantation, Shiraz University of Medical Sciences, Shiraz, Iran
,
Jamal sarvari
1   Department of Bacteriology and Virology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
5   Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
› Institutsangaben
Funding The current study was funded by Shiraz University of Medical Sciences (Grant No. 98-21986).

Abstract

Background Chronic lymphocytic leukemia (CLL) is the most prevalent adult leukemia. Identification of genomic aberration provides prognostic/predictive information that is helpful in the precision medicine management of these patients. The aim of this study was to determine prevalence of the most common cytogenetic abnormalities of CLL patients in the southwest region (Shiraz) of Iran and correlate with clinical prognostic parameters to clarify their prognostic value.

Materials and Methods In this cross-sectional study, 100 patients with CLL were recruited from April 2019 to October 2021. Four milliliters of anticoagulated peripheral blood was collected from each participant. The sample was used for complete blood count (CBC) test and fluorescence in situ hybridization (FISH) test. Interphase FISH (I-FISH) was performed for most common cytogenetic abnormalities, including trisomy 12, 13q14 deletion, 11q deletion, and 17p deletion on interphasic cell nuclei.

Results Among 100 patients with CLL, 33 (33%) were females and 67 (67%) were males. The mean age (mean ± standard error [SE]) of the patients was 59.00 ± 1.14 years, with a ranged of 25 to 79 years. Our analysis demonstrated that 86 (86%) patients had at least one chromosomal aberration. The most commonly detected abnormality was 13q deletion (61, 61%), followed by 17q deletion (50 cases, 50%). Trisomy 12 was detected in 14 (14%) cases and 10 cases (10%) had 11q deletion.

Conclusion The higher frequency of 13q14 and 17p anomalies in our study may be attributed to delayed medical consultations, leading to the emergence of secondary abnormalities. More studies are recommended for verifying the results.



Publikationsverlauf

Eingereicht: 03. August 2024

Angenommen: 14. August 2024

Artikel online veröffentlicht:
26. September 2024

© 2024. MedIntel Services Pvt Ltd. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 
  • References

  • 1 Yao Y, Lin X, Li F, Jin J, Wang H. The global burden and attributable risk factors of chronic lymphocytic leukemia in 204 countries and territories from 1990 to 2019: analysis based on the global burden of disease study 2019. Biomed Eng Online 2022; 21 (01) 4
  • 2 Yokus O, Jafarli K, Sametoglu F, Goze H, Serin I. Secondary immunodeficiency frequency in patients with chronic lymphocytic leukemia: the relationship with stage and treatment. Int J Hematol Oncol Stem Cell Res 2022; 16 (01) 14-21
  • 3 Gachard N, Salviat A, Boutet C. et al; GEIL. Multicenter study of ZAP-70 expression in patients with B-cell chronic lymphocytic leukemia using an optimized flow cytometry method. Haematologica 2008; 93 (02) 215-223
  • 4 Hallek M, Al-Sawaf O. Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures. Am J Hematol 2021; 96 (12) 1679-1705
  • 5 American Cancer Society; Key Statistics for Chronic Lymphocytic Leukemia. Atlanta, GA: American Cancer Society; 2019
  • 6 Blood Cancer UK. Chronic lymphocytic leukaemia (CLL). https://bloodcancerorguk/understanding-blood-cancer/leukaemia/chronic-lymphocytic-leukaemia/?gad_source=1&gclid=Cj0KCQiAmNeqBhD4ARIsADsYfTetisORyonZFwGhqhOgaP2w-m3Me5IDX0-YAVjYSM-AGDp-Mugk9zcaAmj_EALw_wcB
  • 7 Kipps TJ, Stevenson FK, Wu CJ. et al. Chronic lymphocytic leukaemia. Nat Rev Dis Primers 2017; 3 (01) 1-22
  • 8 Döhner H, Stilgenbauer S, Benner A. et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000; 343 (26) 1910-1916
  • 9 Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing and Conventional Karyotype. Treasure Island, FL: StatPearls Publishing; 2020
  • 10 Alhourani E, Aroutiounian R, Harutyunyan T. et al. Interphase molecular cytogenetic detection rates of chronic lymphocytic leukemia-specific aberrations are higher in cultivated cells than in blood or bone marrow smears. J Histochem Cytochem 2016; 64 (08) 495-501
  • 11 Stevens-Kroef MJ, van den Berg E, Olde Weghuis D. et al. Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling. Mol Cytogenet 2014; 7 (01) 3
  • 12 Coll-Mulet L, Gil J. Genetic alterations in chronic lymphocytic leukaemia. Clin Transl Oncol 2009; 11 (04) 194-198
  • 13 Durak B, Akay OM, Aslan V. et al. Prognostic impact of chromosome alterations detected by FISH in Turkish patients with B-cell chronic lymphocytic leukemia. Cancer Genet Cytogenet 2009; 188 (02) 65-69
  • 14 Dewald GW, Brockman SR, Paternoster SF. et al. Chromosome anomalies detected by interphase fluorescence in situ hybridization: correlation with significant biological features of B-cell chronic lymphocytic leukaemia. Br J Haematol 2003; 121 (02) 287-295
  • 15 Karakosta M, Manola KN. The parallel application of karyotype interphase and metaphase FISH after DSP-30/IL-2 stimulation is necessary for the investigation of chronic lymphocytic leukemia. Hematology 2016; 21 (09) 526-535
  • 16 Rahimi H, Sadeghian MH, Keramati MR. et al. Cytogenetic abnormalities with interphase FISH method and clinical manifestation in chronic lymphocytic leukemia patients in North-East of Iran. Int J Hematol Oncol Stem Cell Res 2017; 11 (03) 217-224
  • 17 Gaidano G, Rossi D. The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment. Hematology (Am Soc Hematol Educ Program) 2017; 2017 (01) 329-337
  • 18 Khalid K, Padda J, Syam M. et al. 13q14 deletion and its effect on prognosis of chronic lymphocytic leukemia. Cureus 2021; 13 (08) e16839
  • 19 Puiggros A, Blanco G, Espinet B. Genetic abnormalities in chronic lymphocytic leukemia: where we are and where we go. BioMed Res Int 2014; 2014: 435983
  • 20 Berkova A, Zemanova Z, Trneny M. et al. Clonal evolution in chronic lymphocytic leukemia studied by interphase fluorescence in-situ hybridization. Neoplasma 2009; 56 (05) 455-458
  • 21 Calin GA, Dumitru CD, Shimizu M. et al. Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 2002; 99 (24) 15524-15529
  • 22 Zenz T, Gribben JG, Hallek M, Döhner H, Keating MJ, Stilgenbauer S. Risk categories and refractory CLL in the era of chemoimmunotherapy. Blood 2012; 119 (18) 4101-4107
  • 23 Gogia A, Gupta R, Kumar L, Sharma A, Soni L. Chronic lymphocytic leukemia with deletion 17p: an Indian scenario. South Asian J Cancer 2019; 8 (01) 40-51
  • 24 Isobe M, Emanuel BS, Givol D, Oren M, Croce CM. Localization of gene for human p53 tumour antigen to band 17p13. Nature 1986; 320 (6057): 84-85
  • 25 Sindelárová L, Michalová K, Zemanová Z. et al. Incidence of chromosomal anomalies detected with FISH and their clinical correlations in B-chronic lymphocytic leukemia. Cancer Genet Cytogenet 2005; 160 (01) 27-34
  • 26 Seiler T, Döhner H, Stilgenbauer S. Risk stratification in chronic lymphocytic leukemia. Semin Oncol 2006; 32 (02) 186-194
  • 27 Nelson BP, Gupta R, Dewald GW, Paternoster SF, Rosen ST, Peterson LC. Chronic lymphocytic leukemia FISH panel: impact on diagnosis. Am J Clin Pathol 2007; 128 (02) 323-332
  • 28 Eid OM, Eid MM, Kayed HF. et al. Detection of cytogenetics abnormalities in chronic lymphocytic leukemia using FISH technique and their prognostic impact. Gulf J Oncolog 2014; 1 (15) 68-75
  • 29 Inamdar KV, Bueso-Ramos CE. Pathology of chronic lymphocytic leukemia: an update. Ann Diagn Pathol 2007; 11 (05) 363-389
  • 30 Marasca R, Maffei R, Martinelli S. et al. Clinical heterogeneity of de novo 11q deletion chronic lymphocytic leukaemia: prognostic relevance of extent of 11q deleted nuclei inside leukemic clone. Hematol Oncol 2013; 31 (02) 88-95
  • 31 Zenz T, Mertens D, Küppers R, Döhner H, Stilgenbauer S. From pathogenesis to treatment of chronic lymphocytic leukaemia. Nat Rev Cancer 2010; 10 (01) 37-50
  • 32 Stankovic T, Skowronska A. The role of ATM mutations and 11q deletions in disease progression in chronic lymphocytic leukemia. Leuk Lymphoma 2014; 55 (06) 1227-1239
  • 33 Ouillette P, Li J, Shaknovich R. et al. Incidence and clinical implications of ATM aberrations in chronic lymphocytic leukemia. Genes Chromosomes Cancer 2012; 51 (12) 1125-1132
  • 34 Rossi D, Fangazio M, Rasi S. et al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood 2012; 119 (12) 2854-2862
  • 35 Rose-Zerilli MJ, Forster J, Parker H. et al. ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial. Haematologica 2014; 99 (04) 736-742