Unbalanced rearrangement der(9;18)(p10;q10) and JAK2 V617F mutation in a patient with AML following post-polycythemic myelofibrosis
2011-09-01 Francesca Cambosu, Giuseppina Fogu, Paola Maria Campus, Claudio Fozza, Luigi Podda, Andrea Montella, Maurizio Longinotti AffiliationClinical Genetics, Department of Biomedical Sciences, University of Sassari, Viale San Pietro 43/B 07100 Sassari, Italy (FC, GF, AM); Azienda Ospedaliero-Universitaria Sassari, Italy (PMC, CF, LP, AM, ML); Institute of Hematology, University of Sassari, Italy (CF, LP, ML)
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Main items
+ Polycythemia vera in 1980. Myelofibrosis in progression in Feb. 2008. AML M2 FAB in Dec. 2008.
Clinics case report
Age
66 yrs
Sex
M
Liver
+ enlarged liver (+ 20 cm)
Spleen
+
Lymph nodes
-
Cns involv
-
Blood data
Wbc
46
Hb
8.5
Platelets
239
Blasts
15
Bone marrow
25
Cyto path
Cytology
NA
Immunophenotype
NA
Rearranged ig tcr
NA
Pathology
NA
Electron microscopy
NA
Precise diagnosis
Polycythemia vera. Myelofibrosis: hypocellular bone marrow with marked increase in reticulin fibres. AML M2.
Survival data
Date diagnosis
01-1980
Treatment
Bleeding therapy and acethylsalicylic acid. 2005 -2008: Etanercept (anti-TNF alpha). 2007: Hydroxyurea. Sept. 2008: Splenectomy. Feb. 2008: Pomalidomide, suspended after 1 month because of a severe neutropeny. Feb 2009: Bone Marrow allograft.
Complete remission
- (March-November 2009: complete hematological remission; molecular remission not reached (JAK-2 positivity in June 2009))
Treatment relat death
-
Relapse
-
Status
D
Date last follow
11-2010 (due to gastrointestinal hemorrhage)
Survival
360
Karyotype
Sample
Bone marrow biopsy in Dec. 2008
Culture time
24 and 48 h.
Banding
Cytogenetic analysis performed in QFQ banding; band level: 400.
Results
46,XY, +9,der(9;18)(p10;q10) in 25/25 cells scored.
Images
Probes: whole-chromosome painting probes (wcp) and centromeric (CEP) probes of chromosomes 9 (9p11-q11 alpha satellite DNA) and 18 (D18Z1) (Abbott Molecular/Vysis).
Comments section
Comments
The patient here reported had a classical evolution of the disease, after a very long polycythemic phase with a noteworthy survival time likely correlated to the young age of the patient when PV occurred. Because of the absence of cytogenetic results at diagnosis and during the polycythemic phase, we cannot fully evaluate the significance of der(9;18)(p10;q10) in the natural history of the disease before its evolution. Future reports could make clear this not negligible aspect.
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 |
| 17213018 | 2007 | A der(18)t(9;18)(p13;p11) and a der(9;18)(p10;q10) in polycythemia vera associated with a hyperproliferative phenotype in transformation to postpolycythemic myelofibrosis. | Larsen TS et al |
| 18786436 | 2008 | Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. | Ohyashiki K et al |
Citation
Francesca Cambosu, Giuseppina Fogu, Paola Maria Campus, Claudio Fozza, Luigi Podda, Andrea Montella, Maurizio Longinotti
Unbalanced rearrangement der(9;18)(p10;q10) and JAK2 V617F mutation in a patient with AML following post-polycythemic myelofibrosis
Atlas Genet Cytogenet Oncol Haematol. 2011-09-01
Online version: http://atlasgeneticsoncology.org/case-report/208855/unbalanced-rearrangement-der(9
