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(Paper co-edited with the European LeukemiaNet)
Ring Chromosome 8 as a sole abnormality: An adverse prognostic indicator in Acute Myeloid Leukemia?
Written2016-08Vishal Ashok, Satish Kumar, Jayarama S.Kandandale, Tambarahalli S Sundareshan
Department of Cytogenetics, Anand Diagnostic Laboratory (VA, TSS), Columbia Asia Hospital (SK), Centre for Human Genetics (JSK), Bangalore, India.
Age and sex : 70 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note (.)
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 170 x 109/L ; Hb : 11.6 g/dL ; platelets : 134 x 109/L; blasts : 95 % .
Bone marrow : Hyper cellular and replaced by blasts (>90%) having increased nucleo-cytoplasmic ratio with 2 to 3 prominent nucleoli and cytoplasmic granules with strong positivity for myeloperoxidase.
Cyto pathology classification
Phenotype : AML M2
Immunophenotype : MPO (Strong)
Rearranged Ig Tcr : Not performed
Pathology : Increased nucleo-cytoplasmic ratio with 2 to 3 prominent nucleoli and cytoplasmic granules.
Precise diagnosis : AML - M2
Date of diagnosis: 08-2012
Treatment : Hydroxyurea.
Complete remission : None
Treatment related death : -
Status : Dead 09-2012
Survival : 1 month(s)
Sample : Bone marrow aspirate. ; culture time : Overnight and 24 hours without stimulating agents. ; banding : GTG
Results : GTG banding revealed a modal number of 47 with a ring chromosome. Screening of 30 metaphases and analysis of 15 karyotypes confirmed the ring chromosome as the sole abnormality. Based on the morphology, the ring was suspected to be a ring chromosome 8. Subsequent Spectral Karyotyping confirmed the cytogenetic findings. The final karyotype was reported as: 47,XX,r(8)(p23q24)[30] according to ISCN.
Other molecular cytogenetics technics : Fluorescence in situ hybridization (FISH) using SKYPaint® Probe from Applied Spectral Imaging (Israel), was performed on metaphase chromosomes from cultured Bone marrow sample of this patient and analysed using GenASIs Spectral Karyotyping (HiSKY®) software.
Other molecular cytogenetics results : SKY confirmed the marker as a ring chromosome 8.
Figure 1: Spectral Karyotyping confirming marker chromosome as Chromosome 8.
Figure 2: GTG banded karyotype showing Ring chromosome 8.
A 70-year-old female with AML-M2 was referred for conventional cytogenetic study (CCS) which revealed a modal number of 47 with a ring chromosome. Screening of 30 metaphases and analysis of 15 karyotypes confirmed the ring chromosome as the sole abnormality. Based on the morphology, the ring was suspected to be a r(8). SKY was performed on the sample, which corroborated the cytogenetic findings (Figure 1). Final karyotype was interpreted as 47,XX,r(8)(p23q24)[30] according to ISCN (Figure 2). Patient was started on Hydroxyurea followed by supportive care and expired within 4 weeks of diagnosis.
Ring chromosomes are a rare entity, which occur in less than 10% of all hematological neoplasm (Gebhart E, 2008). Presence of a ring chromosome either as part of a complex karyotype or as a sole chromosomal aberration is always in an unbalanced state. This is not only due to the structure of the chromosome, but also the fuctional genes carried in it. The extent to which it is unbalanced can be understood better by molecular tests like FISH and SKY as complementary tests to CCS for better delineation (Gisselsson D et al, 1998). Our case is represented by a partial trisomy of 8 in the form of a ring chromosome. Trisomy 8 is one of the most frequent numerical aberrations in AML, occurring at a frequency 5% as a sole abnormality of all cytogenetically abnormal cases and 10% in cases associated with other aberrations (Heim S, Mitelman F, 2009). As per our knowledge only a few cases of r(8) has been reported either as a sole abnormality (Bibhas Kar et al, 2008) or to be associated with complex chromosomal aberrations in hematological malignancies (F.M. De Oliveria et al, 2007, I Wlodarska et al, 2004, Roland Berger et al, 2002, Gisselsson D et al, 1998, Guiseppina Fugazza et al, 1995)[Table 1].
Table 1: Previous reported cases of ring chromosome 8 in Hematological Malegnancies
AuthorClinical presentationFAB ClassificationKaryotypeMethodsPrognosis
Fugazza G et al, 199665 year old male with Parkinson's Disease referred for hemorragic Manifestations.RAEB-T46,XY,del(5)(q13q31),t(7 ;20)(q22p13),-8,+rCCS, Telomeric and centromeric FISHPatient passed away within 2 months due to sepsis. Unfavourable outcome
Gisselsson D et al, 199873 year old Female AML-M145-47,XX,del(5)(q13),-8,+1-2r,+mar[cp15]/72-76,XXX,+5, del(5)(q13)x2,-7,-8,-9,+13,-16,+19,+20,+mar[cp6]/46,XX[4] CCS, FISH for 8q22-
Florence Salomon-Nguyen et al, 2000-AML-M245,X,-X,r(8)CCS-
Berger R et al, 2002 19 year female with appendicitis, peritonitisAML-M246,XX,-8,t(8;21),+rCCS 1yr cytogenetic remission, Favourable outcome
I Wlodarska et al, 200471 year old female, Lymphocytosis with massive spleenomegaly CD5-, CD19+, CD22+, CD38 w+, FMC7 + Small-cell B-NHL46,XX,t(2 ;11)(p11 ;q13)[7]/46,idem,del(1)(q22q42),r(8)[2]CCS, FISH for 8p23Patient passed away due to progressive disease within a year of treatment. Unfavourable outcome
F.M. De Oliveria et al, 200741 year old male with lymphadenopathy and hepatosleenomegaly.T-cell PLL46,t(X ;14)(q28 ;q11),t(Y ;14)(q12 ;q11),r(8),+mar[20]CCS,SKYPatient achived complete regression of lymphadenopathy and hepatosplenomegaly with normal blood count after 5 months of treatment.
Kar B et al, 200815 month female with fever, weight loss, gum bleeds and pallor, CD 41 and CD 61 Myeloid blasts present,AML-M746, XX [13]/ 47, XX, +8[2]/ 47, XX, +r (8) [5] CCSPatient passed away on day 11 post transplantation, Unfavourable outcome. 
Present case study70 year old female with 95% blasts with Myeloperoxidase positivity.AML-M247,XX,r(8)(p23q24)[30] CCS, SKYPatient passed away within 4 weeks of diagnosis, unfavourable outcome.
Internal links
Atlas Cardr(8)
Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia
Berger R, Busson M
Ann Genet 2002 Jul-Sep;45(3):161-3
PMID 12381450
Loss of telomeric sequences in a ring derived from chromosome 8 in refractory anemia with excess of blasts in transformation
Fugazza G, Bruzzone R, Sessarego M
Cancer Genet Cytogenet 1996 Jul 1;89(1):31-3
PMID 8689606
Ring chromosomes in human neoplasias
Gebhart E
Cytogenet Genome Res 2008;121(3-4):149-73
PMID 18758155
The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells
Gisselsson D, Höglund M, Mertens F, Johansson B, Dal Cin P, Van den Berghe H, Earnshaw WC, Mitelman F, Mandahl N
Hum Genet 1999 Apr;104(4):315-25
PMID 10369161
Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia
Kar B, Nandhini B, Revathi R
Indian J Hematol Blood Transfus 2009 Mar;25(1):30-2
PMID 23100969
Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of tumor cells.
Heim S, Mitelman F.
Heim S, Mitelman F. 3rd ed. 2009
The t(1;12)(q21;p13) translocation of human acute myeloblastic leukemia results in a TEL-ARNT fusion
Salomon-Nguyen F, Della-Valle V, Mauchauffe M, Busson-Le Coniat M, Ghysdael J, Berger R, Bernard OA
Proc Natl Acad Sci U S A 2000 Jun 6;97(12):6757-62
PMID 10829078
Variant t(2;11)(p11;q13) associated with the IgK-CCND1 rearrangement is a recurrent translocation in leukemic small-cell B-non-Hodgkin lymphoma
Wlodarska I, Meeus P, Stul M, Thienpont L, Wouters E, Marcelis L, Demuynck H, Rummens JL, Madoe V, Hagemeijer A
Leukemia 2004 Oct;18(10):1705-10
PMID 15306823
Translocations t(X;14)(q28;q11) and t(Y;14)(q12;q11) in T-cell prolymphocytic leukemia
de Oliveira FM, Tone LG, Simões BP, Rego EM, Marinato AF, Jácomo RH, Falcão RP
Int J Lab Hematol 2009 Aug;31(4):453-6
PMID 18294235


This paper should be referenced as such :
Ashok V, Kumar S, Kandandale JS, Sundareshan TS
Ring Chromosome 8 as a sole abnormality: An adverse prognostic indicator in Acute Myeloid Leukemia?
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

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