Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myelodysplastic syndrome. Case 0002M.
2011-03-01 Kavita S Reddy AffiliationKaiser Permanente Southern California, 4580 ElectronicPlace, Los Angeles, CA 90039, USA
Previous history
Preleukaemia
+
Malignant disease
+ Bladder cancer, status post removal and BCG treatment
Inborn condition
-
Clinics case report
Age
85 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
1.9
Hb
10.9
Platelets
57
Blasts
< 5
Bone marrow
< 2
Cyto path
Cytology
MDS (normocellular marrow with dysmegakaryopoiesis and dysgranulopoiesis; consistent with myelodysplastic syndrome)
Immunophenotype
NA
Rearranged ig tcr
NA
Precise diagnosis
MDS
Survival data
Date diagnosis
03-2005
Treatment
not on any treatment
Complete remission
None
Treatment relat death
NA
Relapse
-
Phenotype relapse
NA
Status
A
Date last follow
12-2010
Survival
66
Karyotype
Sample
3/2005 BM, 6/2007 BM and 12/2010 BM
Culture time
24 and 72 hours with overnight Colcemid
Banding
GTW at 400 bands
Results
3/2005 BM 45,X,-Y[5]/46,XY,+9,der(9;18)(p10;q10)[11]/46,XY[4]; 6/2007 BM 45,X,-Y[5][4]/46,XY[16]; 12/2010 BM 46,XY,+9, der(9;18)(p10;q10)[15]/46,XY[5]
Karyotype relapse
NA
Mol cytogenet technics
None
Images
Case 0002M : two partial karyotypes with a normal chromosome 9 pair, a der(9;18)and a normal chromosome 18 and arrow)
Comments section
Comments
The der(9;18) supports progression of the disease in case 0001M but in case 0002M with MDS it reappears when there is suspicion of transformation and its role is less uncertain.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9669670 | 1998 | Gain of 9p in the pathogenesis of polycythemia vera. | Chen Z et al |
| 12645649 | 2003 | Karyotypic abnormalities in myelofibrosis following polycythemia vera. | Andrieux J et al |
| 15993276 | 2005 | Gain of 9p due to an unbalanced rearrangement der(9;18): a recurrent clonal abnormality in chronic myeloproliferative disorders. | Bacher U et al |
| 15858187 | 2005 | A gain-of-function mutation of JAK2 in myeloproliferative disorders. | Kralovics R et al |
Citation
Kavita S Reddy
Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myelodysplastic syndrome. Case 0002M.
Atlas Genet Cytogenet Oncol Haematol. 2011-03-01
Online version: http://atlasgeneticsoncology.org/case-report/208851/unbalanced-rearrangement-der(9
