Peculiarities of abnormal karyotypes formation in therapy-related acute leukemias
DOI:
https://doi.org/10.32471/exp-oncology.2312-8852.vol-42-no-2.14593Keywords:
chromosomal abnormalities, chromothripsis, complex karyotype, prognostic significance, therapy-related leukemiaAbstract
Summary. Aim: To determine ways of formation of abnormal karyotypes in two clinical cases of secondary acute leukemias of myeloid and lymphoid lineages. Material and Methods: Bone marrow cells of one patient with therapy-related acute monoblastic/monocytic leukemia and one patient with therapy-related acute lymphoblastic leukemia were examined by cytogenetic GTG banding technique. Results: An unusually large number of quantitative and structural anomalies of chromosomes in therapy-related acute monoblastic/monocytic leukemia have been established, which have many features in common with chromothripsis, namely instability of clones that manifested itself through quantitative anomalies (trisomy, monosomy, marker chromosomes, including chromosome 5), structural — t(9;11), deletions of the long arm of chromosomes 8 and 14, derivatives of chromosomes 3 and 7, ring chromosomes. In case of secondary acute lymphoblastic leukemia, the anomalous clone with balanced translocation in all 20 metaphase plates 46,XX,t(1;15)(p21;q24) has been registered, which is not described in the literature. Therefore, the diagnostic and prognostic value of such anomaly is unknown. Conclusions: Rearrangement with the involvement of the locus 11q23 was recorded in the case of chemotherapy treatment without topoisomerase II inhibitors. The complex karyotype formed after chemotherapy and radiotherapy, which is a criterion for an unfavorable prognosis of the disease, is considered as the equivalent of chromothripsis. t(1;15) is considered as an abnormality that can be attributed to the group of favorable secondary acute lymphoblastic leukemia prognosis.
References
Pagano L, Pulsoni A, Tosti ME, et al. Clinical and biological features of acute myeloid leukemia occurring as a second malignancy: GIMEMA archive of adult acute leukemia. Br J Haematol 2001; 112: 109–17.
Pullarkat V, Slovak ML, Dagis A, et al. Acute leukemia and myelodysplasia after adjuvant chemotherapy for breast cancer: durable remissions after hematopoietic stem cell transplantation. Ann Oncol 2009; 20: 2000–6.
Travis LB, Holowaty EJ, Bergfeldt K, et al. Risk of leukemia after platinum-based chemotherapy for ovarian cancer. N Engl J Med 1999; 340: 351–7.
McLauglin P, Estey E, Glassman A, et al. Myelodysplasia and acute myeloid leukemia following therapy for indolentl lymphoma with fludarabine, mitoxantrone and dexamethasone (FND) plus rituximab and interferon alpha. Blood 2005; 105: 4573–5.
Smith SM, LeBeau MM, Huo D, et.al. Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series. Blood 2003; 102: 43–52.
Chen W, Wang E, Lu Y, et al. Therapy-related acute lymphoblastic leukemia without 11q23 abnormality. Am J Clin Pathol 2010; 133: 75–82.
Swerdlow SH, Campo E, Pileri SA, et al. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. The 2016 revision of the World Health Organization of lymphoid neoplasms. Blood 2016; 127: 2375–90.
Shivakumar R, Tan W, Wilding GE, et al. Biologic features and treatment outcome of secondary acute lymphoblastic leukemia — a review of 101 cases. Ann Oncol 2008; 19: 1634–8.
Tang G, Zuo Z, Thomas DA, et al. Precursor B-acute lymphoblastic leukemia occurring in patients with a history of prior malignancies: is it therapy-related? Haematologica 2012; 97: 919–25.
Ganzel C, Devlin S, Douer D, et al. Secondary acute lymphoblastic leukaemia is constitutional and probably not related to prior therapy. Br J Haematol 2015; 170: 50–5.
Stephens PJ, Greenman CD, Fu B, et al. Massive genomic rearrangement asquired in a single catastrofic event during cancer development. Cell 2011; 144: 27–40.
Tapia-Laliena MA, Korzeniewski N, Hohenfellner M, Duensing S. High-risk prostate cancer: a disease of genomic instability. Urol Oncol 2014; 32: 1101–7.
Furgason JM, Koncar RF, Michelhaugh SK, et al. Whole genome sequence analysis links chromothripsis to EGFR, MDM2, MDM4, and CDK4 amplification in glioblastoma. Oncoscience 2015; 2: 618–28.
Ratnaparkhe M, Hlevnjak M, Kolb T, et al. Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia 2017; 31: 2048–56.
Bassaganyas L, Bea S, Escaramis G, et al. Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic nalysis. Leukemia 2013; 27: 2376–9.
Mackinnon RN, Campbell LJ. Chromothripsis under the microscope: a cytogenetic perspective of two cases of AML with catastrophic chromosome rearrangement. Cancer Genet 2013; 206: 238–51.
Fontana MC, Marconi G, Feenstra JDM, et al. Chromothripsis in acute myeloid leukemia: biological features and impact on survival. Leukemia 2018; 32: 1609–20.
Govind SK, Zia A, Hennings-Yeomans PH, et al. ShatterProof: operational detection and quantification of chromothripsis. BMC Bioinformatics 2014; 15: 78.
Korbel JO, Campbell PJ. Criteria for inference of chromothripsis in cancer genomes. Cell 2013; 152: 1226–36.
Human Cytogenetics. A practical Approach. Malignancy and Acquired Abnormalities. Rooney DE, Czepulkowsky BH, eds. Second edition. IRL Press, 1995. 293 p.
An International System for Human Cytogenomic Nomenclature. McGowan-Jordan J, Simons A, Schmid M, eds. New York: Karger, 2016. 139 p.
Döhner H, Estey EH, Amadori S, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia Net. Blood 2010; 115: 453–74.
Andreeva SV, Drozdova VD, Emel’yanenko LA. Chromosome 11 rearrangements in the different haematological neoplasias. Cytol Genet 2007; 41: 103–8.
Rosenbaum MW, Pozdnyakova O, Geyer JT, et al. Ring chromosome in myeloid neoplasms is associated with complex karyotype and disease progression. Hum Pathol 2017; 68: 40–6.
Mittelman M. Atlas of Genetics and Cytogenetics in Oncology and Haematology. Available from: http://irevues.inist.fr/atlasgeneticsoncology.
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