clinical impact of trisomy 8 on carcinogenesis progression and treatment response have been focus of a research interest . trisomy 8 is one of the most frequent numerical aberrations in acute myeloid leukemia ( aml ) , myelodysplastic syndrome ( mds ) , chronic myeloproliferative disorders ( mpd ) , and acute lymphoblastic leukemia ( all ) , in solid tumors including colon , breast , and head and neck cancers , and rarely reported in chronic lymphocytic leukemia ( cll ) . the constitutional presence of trisomy 8 , i.e. , warkany syndrome ( mosaic trisomy 8) , is manifested by moderate mental retardation , bone and joint abnormalities , cardiovascular and urogenital malformations , deep palmar and plantar grooves , and agenesis of the corpus callosum . the occurrence of trisomy 8 in malignant conditions raises a possibility of underlying constitutional mosaic trisomy 8 . here , we would like to share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment . the leukemia cases studied from january 2005 to september 2008 were screened for presence of trisomy 8 , either as a sole anomaly or in addition to other chromosomal aberrations . out of 60 cases of trisomy 8 by cytogenetics , 37 ( 62% ) were males and 23 ( 38% ) females with age range 174 and median age 31 years . these patients have been followed up for clinical progression ; the data are available from 1 to 48 months . bone marrow aspirate or blood samples were cultured for 24 and 48 h without a mitogen . for constitutional study , a mitogen - stimulated blood culture was set for 72 h using phytohemagglutinin as a mitogenic agent . the cytogenetic data were classified into three groups , i.e. , chronic myeloid leukemia ( cml ) , aml , and all . aml category included inv ( 16 ) , t(15;17 ) , and t(8;21 ) , whereas all category showed various structural as well as numerical changes . the leukemia cases studied from january 2005 to september 2008 were screened for presence of trisomy 8 , either as a sole anomaly or in addition to other chromosomal aberrations . out of 60 cases of trisomy 8 by cytogenetics , 37 ( 62% ) were males and 23 ( 38% ) females with age range 174 and median age 31 years . these patients have been followed up for clinical progression ; the data are available from 1 to 48 months . bone marrow aspirate or blood samples were cultured for 24 and 48 h without a mitogen . for constitutional study , a mitogen - stimulated blood culture was set for 72 h using phytohemagglutinin as a mitogenic agent . the cytogenetic data were classified into three groups , i.e. , chronic myeloid leukemia ( cml ) , aml , and all . aml category included inv ( 16 ) , t(15;17 ) , and t(8;21 ) , whereas all category showed various structural as well as numerical changes . the leukemia cases studied from january 2005 to september 2008 were screened for presence of trisomy 8 , either as a sole anomaly or in addition to other chromosomal aberrations . out of 60 cases of trisomy 8 by cytogenetics , 37 ( 62% ) were males and 23 ( 38% ) females with age range 174 and median age 31 years . these patients have been followed up for clinical progression ; the data are available from 1 to 48 months . bone marrow aspirate or blood samples were cultured for 24 and 48 h without a mitogen . for constitutional study , a mitogen - stimulated blood culture was set for 72 h using phytohemagglutinin as a mitogenic agent . the cytogenetic data were classified into three groups , i.e. , chronic myeloid leukemia ( cml ) , aml , and all . aml category included inv ( 16 ) , t(15;17 ) , and t(8;21 ) , whereas all category showed various structural as well as numerical changes . the patients included cml ( n = 36 ( 60% ) , m:26/f:10 ) , aml ( n = 17 ( 28.0% ) , m:7/f:10 ) , and acute leukemia ( n = 7 ( 12.0% ) , m:4/f:3 ) . among 60 patients , 18 were untreated and 42 were treated ( 22 : glivec , 8 : daunorubicin , and 12 : others ) . in seven ( 12.0% ) patients , trisomy 8 was observed as the sole karyotypic aberration in six aml and one all patients . there were 6 ( 10% ) patients with + 8 as a sole anomaly in addition to normal clone , which might suggest disease progression , in 47 ( 78% ) patients , the + 8 was in addition to t(9;22 ) , t(15;17 ) , and others , including 3 with tetrasomy 8 . one of the patients showed presence of constitutional + 8 , a rare but reported finding . three patients with tetrasomy 8 were classified as trisomy 8 for purposes of this analysis . in contrast , cases have been reported implying that tetrasomy 8 clone is unrelated to trisomy 8 ; these results need further study . occurrence of trisomy 8 in different types of leukemia the current study will form the basis for future correlation of various karyotypic anomalies on disease progression and survival following a therapeutic regime . trisomy 8 is reported in 25% of cml cases , with or without simple or complex karyotypic changes , in 1015% of aml patients , in 1520% of mds , and 5% of all as a part of hyper diploid karyotype or complex karyotypes with structural anomalies , exceptionally associated with non - hodgkin lymphomas , and varies in frequency for solid tumors . trisomy 8 as a secondary chromosomal change is associated with blastic phase in cml with a relatively poor prognosis . it has been reported by cancer and leukemia group b ( calgb ) that in aml + 8 alone was associated with poor prognosis , whereas according to pedersen et al . , it was an intermediate prognostic factor . thus , the presence of trisomy 8 in several leukemias poses a question for its role in leukomogenesis . the trisomy 8 is likely to be a disease - modulating secondary event , with underlying cryptic translocations , deletions , or mutations as primary events . the clinical reevaluation of patients to exclude constitutional trisomy genes with possible significance in leukomogenesis located on chromosome 8 include c - myc on 8q24 , c - mos on 8q22 , moz on 8p11 , and eto on 8q22 . trisomy 8 could represent an alternative mechanism for increasing c - myc gene dosage to achieve amplification of c - myc oncogene . some studies suggest that trisomy 8 associated with human hematologic neoplasia is generally not related to gross rearrangements of the c - mos or c - myc genes . the role of trisomy 8 in leukemogenesis may be possibly explained by imprinting effect of certain genes due to uniparental disomy caused by the acquired trisomy 8 . the chromosome 8 upd has been reported for rectal carcinoma and adenoma , pancreatic cancer , aml , and transformed b - cell lymphoma . the constitutional trisomy is associated with abnormal phenotype due to imprinting effects , reduction to homozygosity at recessive disease loci , or trisomy mosaicism , in few instances . the recent studies suggest occurrence of extra chromosome 8 of both , paternal as well as maternal origin , aggravating further the existing queries regarding molecular mechanisms of role of a trisomy in leukemogenesis . it is evident that unraveling the molecular and biologic consequences of this trisomy requires further investigation . the present study will be extended by including more number of patients with longer follow - up duration .
trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general . 
 it is likely to be a disease - modulating secondary event with underlying cryptic aberrations as it has been frequently reported in addition to known abnormalities contributing to clinical heterogeneity and modifying prognosis . here , we share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment . 
 total 60 cases of trisomy 8 , as a sole anomaly or in addition to other chromosomal aberrations , were reported ( january 2005september 2008 ) . unstimulated bone marrow or blood samples were cultured , followed by gtg banding and karyotyping as per the iscn 2005 . 
 patients with + 8 were chronic myeloid leukemia ( cml ) ( 36 ) , acute myeloid leukemia ( aml ) ( 17 ) , and acute lymphoblastic leukemia ( all ) ( 7 ) . in 7 patients , 
 trisomy 8 was the sole anomaly , whereas in 6 patients + 8 was in addition to normal clone , in 47 patients , the + 8 was in addition to t(9;22 ) , t(15;17 ) , and others , including 3 with tetrasomy 8 . 
 only one patient showed constitutional + 8 . 
 the present study will form the basis of further cumulative studies to correlate potential differential effects of various karyotypic anomalies on disease progression and survival following a therapeutic regime . to unravel the role of extra 8 chromosome , constitutional chromosomal analysis and uniparental disomy will be considered .