Published: 2017-05-27

The possible significance of trisomy 8 in acute myeloid leukemia

Salil N. Vaniawala, Monika V. Patel, Pratik D. Chavda, Shivangi H. Zaveri, Pankaj K. Gadhia


Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.

Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.

Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.

Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.


AML, Cytogenetic, Karyotype, Prognosis, Trisomy 8

Full Text:



Byrd JC, Lawrence D, Arthur DC, Pettenati MJ, Tantravahi R, Qumsiyeh M, et al. Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461. Clin Cancer Res. 1998;4(5):1235-41.

Fenaux P, Castaigne S, Dombret H, Archimbaud E, Duarte M, Morel P, et al. All-trans retinoic acid followed by intensive chemotherapy gives a high complete remission rate and may prolong remission in newly diagnosed acute promyelocytic leukemia: a pilot study on 26 patients. Blood. 1992;80:2176-81.

Schoch C, Haase D, Fonatsch C, Haferlach T, Löffler H, Schlegelberger B, et al. The significance of trisomy 8 in de novo acute myeloid leukaemia: the accompanying chromosome aberrations determine the prognosis. Br J Haematol.,1997;99:605-11.

Lin TL, Williams T, He J, Aljitawi OS, Ganguly S, Abhyankar S, et al. Rates of complete diagnostic testing for patients with acute myeloid leukemia, Cancer Med. 2015;4(4):519-22.

Velloso ED, Motta CH, Furtado JB, Bacal NS, Silveira PA, Moyses CB, et al. Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies. Einstein. 2011;9:184-9.

Wolman SR, Gundacker H, Appelbaum FR, and Slovak ML. Impact of trisomy 8 (+8) on clinical presentation, treatment response, and survival in acute myeloid leukemia: a Southwest Oncology Group study. Blood. 2002;100:29-35.

Paulsson K, Fioretos T, Strombeck B, Mauritzson N, Tanke HJ, Johansson B. Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a multicolour and locus specific fluorescence in situ hybridization study. Cancer Genet Cytogenet. 2003;140:66-9.

Virtaneva K, Wright FA, Tanner SM, Yuan B, Lemon WJ, Caligiuri MA, et al. Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogentics. Proc Natl Acad Sci USA. 2001;98:1124-9.

Schoch C, Kohlmann A, Dugas M, Kern W, Hiddemann W, Schnittger S, et al. Genomic gains and losses influence expression levels of genes located within the affected regions: A study on acute myeloid leukemias with trisomy 8 ,11or 13, monosomy 7, or deletion 5q. Leukemia. 2005;19:1224-8.

Pedersen B. MDS and AML with trisomy 8 as the sole chromosomal aberration show different sex ration and prognostic profiles: A study of 115 published cases. Am J Haematol. 1997;56:224-9.

Schaich M, Schlenk RF, Al-Ali HK, Dohner H, Ganser A, Heil G, et al. Prognosis of acute myeloid leukemia patients up to 60 years of age exhibiting trisomy 8 within a noncomplex karyotype: individual patient data based meta-analysis of the German Acute Myeloid Leukemia Intergroup. J Haematol (Haematologica). 2007;92:763-70.

ISCN, International System for Human Cytogenetic Nomenclature (ISCN). S. Karger Publ, Inc. 2009.

Bakshi SR, Brahmbhatt MM, Trivedi PJ, Dalal EN, Patel DM, Purani SS, et al. Trisomy 8 in leukemia: A GCRI experience. Indian J Hum Genetics. 2012;18(1):106-8.

Mayer RJ, Schiffer CA, Peterson BA, Budman DR, Silver RT, Rai KR, et al. Intensive postremission therapy in adults with acute nonlymphocytic leukemia using various dose schedules of ara-C: A progress report from the CALGB. Semin Oncol. 1987;14(1):25-31.

Schlenk RF, Benner A, Krauter J, Buchner T, Sauerland C, Ehninger G, et al. Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: a survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol. 2004;22:3741-50.

De Botton S, Chevret S, Sanz M, Dombret H, Thomas X, Guerci A, et al. Additional chromosomal abnormalities in patients with acute promyelocytic leukaemia (APL) do not confer poor prognosis: results of APL 93 trial. Br J Haematol. 2000;111:801-6.

Saied MH, Marzec J, Khalid S, Smith P, Molloy G, Young BD. Trisomy 8 acute myeloid leukemia analysis reveals new insights of DNA methylome with identification of HHEX as potential diagnostic marker. Biomark Cancer. 2015;7:1-6.

Sen F, Zhang XX, Prieto VG, Shea CR, Qumsiyeh MB. Increased incidence of trisomy 8 in acute myeloid leukemia with skin infiltration (leukemia cutis). Diagn Mol Pathol. 2000;9:190-4.