Unbalanced rearrangement der(9;18)(p10;q10) in a patient with polycythemia vera

2010-04-01  Xinjie Xu, Xueyan Chen, Elizabeth A Rauch, Eric B Johnson, Kate J Thompson, Jennifer JS Laffin, Gordana Raca, Daniel F Kurtycz

University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pediatrics, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (XX, JJSL); University of Wisconsin-Madison, Department of Pathology and Laboratory Medicine, Madison, WI, USA (XC); University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (EAR, EBJ, KJT); University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pathology and Laboratory Medicine, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (GR); University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pathology and Laboratory Medicine, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (DFK)

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
69 yrs
Sex
F
Liver
-
Spleen
+
Lymph nodes
-
Cns involv
- there was no apparent central nervous system involvement at diagnosis

Blood data

Wbc
15.2
Hb
11.7
Platelets
894
Blasts
0% peripheral
Bone marrow
2% blasts

Cyto path

Cytology
NA
Immunophenotype
NA
Rearranged ig tcr
NA
Precise diagnosis
Polycythemia vera

Survival data

Date diagnosis
03-2005
Treatment
Phlebotomy
Complete remission
NA
Treatment relat death
-
Relapse
NA
Status
A
Date last follow
03-2010
Survival
62

Karyotype

Sample
Bone marrow biopsy Sep 17th 2009
Culture time
analysis was performed on overnight colcemid and 24-hour cultures
Banding
400 band level.
Results
46,XX,+9,der(9;18)(p10;q10)[11]/46,XX[9]

Images

Atlas Image
Karyotype of a metaphase from the follow up specimen from September 2009 (four years after the initial diagnosis), 24-hour culture.
Atlas Image
FISH confirmation for an extra copy of 9p.

Comments section

Comments
Gain of 9p resulting from +i(9)(p10) has been reported in two cases of PV, further indicating this gain as a recurrent finding in PV. Our patient is known to carry the activating JAK2 V617F mutation. One can hypothesize that in combination with this mutation, gain of an extra copy of either the mutated or the normal JAK2 allele through formation of the der(9;18)(p10;q10) contributed to the progression of the patient s disease. Our report therefore further suggests the association between the unbalanced rearrangement der(9;18)(p10;q10) and an advanced stage of polycythemia vera.

Article Bibliography

Pubmed IDLast YearTitleAuthors
96696701998Gain of 9p in the pathogenesis of polycythemia vera.Chen Z 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
187864362008Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development.Ohyashiki K et al

Citation

Xinjie Xu, Xueyan Chen, Elizabeth A Rauch, Eric B Johnson, Kate J Thompson, Jennifer JS Laffin, Gordana Raca, Daniel F Kurtycz

Unbalanced rearrangement der(9;18)(p10;q10) in a patient with polycythemia vera

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/case-report/208842/unbalanced-rearrangement-der(9