Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myeloproliferative neoplasm. Case 0001M.

Kavita S Reddy  

Kaiser 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

Atlas Image
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.

Bibliography

Pubmed IDLast YearTitleAuthors
96696701998Gain of 9p in the pathogenesis of polycythemia vera.Chen Z et al
126456492003Karyotypic abnormalities in myelofibrosis following polycythemia vera.Andrieux J et al
159932762005Gain of 9p due to an unbalanced rearrangement der(9;18): a recurrent clonal abnormality in chronic myeloproliferative disorders.Bacher U et al
158581872005A 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;18)(p10;q10)-in-a-patient-with-myeloproliferative-neoplasm-case-0001m