Ring Chromosome 8 as a sole abnormality: An adverse prognostic indicator in Acute Myeloid Leukemia?
2016-08-01 Vishal Ashok, Satish Kumar, Jayarama S.Kandandale, Tambarahalli S Sundareshan AffiliationDepartment of Cytogenetics, Anand Diagnostic Laboratory (VA, TSS), Columbia Asia Hospital (SK), Centre for Human Genetics (JSK), Bangalore, India. [email protected]
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
Figure 1: Spectral Karyotyping confirming marker chromosome as Chromosome 8.
Figure 2: GTG banded karyotype showing Ring chromosome 8.
Comments section
Comments
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12381450 | 2002 | Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia. | Berger R et al |
| 8689606 | 1996 | Loss of telomeric sequences in a ring derived from chromosome 8 in refractory anemia with excess of blasts in transformation. | Fugazza G et al |
| 18758155 | 2008 | Ring chromosomes in human neoplasias. | Gebhart E et al |
| 10369161 | 1999 | The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. | Gisselsson D et al |
| 23100969 | 2009 | Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia. | Kar B et al |
| 10829078 | 2000 | The t(1;12)(q21;p13) translocation of human acute myeloblastic leukemia results in a TEL-ARNT fusion. | Salomon-Nguyen F et al |
| 15306823 | 2004 | 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 et al |
| 18294235 | 2009 | Translocations 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/tumors-explorer/new-content/gene-fusions-explorer/
