Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myelodysplastic syndrome. Case 0002M.

Kavita S Reddy Affiliation

Kaiser 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

Liver

Spleen

Lymph nodes

Cns involv

Blood data

Wbc

1.9

10.9

Platelets

Blasts

< 5

Bone marrow

< 2

Cyto path

Cytology

MDS (normocellular marrow with dysmegakaryopoiesis and dysgranulopoiesis; consistent with myelodysplastic syndrome)

Immunophenotype

Rearranged ig tcr

Precise diagnosis

MDS

Survival data

Date diagnosis

03-2005

Treatment

not on any treatment

Complete remission

None

Treatment relat death

Relapse

Phenotype relapse

Status

Date last follow

12-2010

Survival

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

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.

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;18)(p10;q10)-in-a-patient-with-myelodysplastic-syndrome-case-0002m