Ring Chromosome 8 as a sole abnormality: An adverse prognostic indicator in Acute Myeloid Leukemia?

Vishal 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. vishal1988ashok@gmail.com

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-.

Clinics case report

Age
70 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
170
Hb
11.6
Platelets
134
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 path

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

Survival data

Date diagnosis
08-2012
Treatment
Hydroxyurea.
Complete remission
-
Treatment relat death
-
Status
D
Date last follow
09-2012
Survival
1

Karyotype

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.
Mol cytogenet 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.
Mol cytogenet results
SKY confirmed the marker as a ring chromosome 8.

Images

Atlas Image
Figure 1: Spectral Karyotyping confirming marker chromosome as Chromosome 8.
Atlas Image
Figure 2: GTG banded karyotype showing Ring chromosome 8.

Comments section

Comments
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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
123814502002Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia.Berger R et al
86896061996Loss of telomeric sequences in a ring derived from chromosome 8 in refractory anemia with excess of blasts in transformation.Fugazza G et al
187581552008Ring chromosomes in human neoplasias.Gebhart E et al
103691611999The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells.Gisselsson D et al
231009692009Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia.Kar B et al
108290782000The t(1;12)(q21;p13) translocation of human acute myeloblastic leukemia results in a TEL-ARNT fusion.Salomon-Nguyen F et al
153068232004Variant 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 et al
182942352009Translocations t(X;14)(q28;q11) and t(Y;14)(q12;q11) in T-cell prolymphocytic leukemia.de Oliveira FM et al

Citation

Vishal Ashok, Satish Kumar, Jayarama S.Kandandale, Tambarahalli S Sundareshan

Ring Chromosome 8 as a sole abnormality: An adverse prognostic indicator in Acute Myeloid Leukemia?

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208887/meetings/js/lib/humanGenome