Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myeloproliferative neoplasm. Case 0001M.
2011-03-01 Kavita S Reddy AffiliationKaiser Permanente Southern California, 4580 ElectronicPlace, Los Angeles, CA 90039, USA
Previous history
Preleukaemia
+
Malignant disease
-
Inborn condition
-
Clinics case report
Age
71 yrs
Sex
M
Liver
-
Spleen
+ Spleen appears enlarged measures 15.8 cm in length
Lymph nodes
-
Cns involv
-
Blood data
Wbc
112.7
Hb
13.3
Platelets
42
Bone marrow
<5
Cyto path
Cytology
MPN (near 100% cellular marrow with granulocytic and megakaryocytic hyperplasia consistent with chronic myeloproliferative neoplasm).
Immunophenotype
NA
Rearranged ig tcr
NA
Precise diagnosis
CMPN
Survival data
Date diagnosis
10-2004
Treatment
Could tolerate Interferon or Hydrea and is on regulated dose of Busulfan.
Complete remission
None
Treatment relat death
NA
Relapse
-
Phenotype relapse
NA
Status
A
Date last follow
12-2010
Survival
74
Karyotype
Sample
10/2004 BM, 6/2007 PB and 12/2010 BM
Culture time
24 and 72 hours with overnight Colcemid
Banding
GTW at 400 bands
Results
10/2004 BM 46,XY[20]; 6/2007 PB 46,XY[10]; 12/2010 BM 46,XY,+9,der(9;18)(p10;q10)[8]/46,sl,del(13)(q12q14)[cp6]/46,XY[6]
Karyotype relapse
NA
Mol cytogenet technics
None
Other molec studies
Technics
PCR
Results
JAK2V617F mutation
Images
Case 0001M : two partial karyotypes of the stemline (row1-2) with 2 normal chromosomes 9 a der(9;18), 13 pairs, a one normal chromosome 18 and arrow). Two partial karyotpes of the sideline (row 3-4) with a normal chromosome 9 pair, a der(9;18), a normal chromosome 13 and a deleted 13 (arrow) and a normal 18 (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 myeloproliferative neoplasm. Case 0001M.
Atlas Genet Cytogenet Oncol Haematol. 2011-03-01
Online version: http://atlasgeneticsoncology.org/case-report/208850/unbalanced-rearrangement-der(9
