Inversion(11)(p15q22) as a secondary anomaly in a case of relapsed MDS-RAEB after unrelated donor hematopoietic cell transplantation

Yan Zhang, Xinjian Yu, Jinhong Liu  

Research Center of Hematology, Fudan University, Shanghai Daopei Hospital, Shanghai, P R China

Previous history

Preleukaemia
+ previous diagnosed as MDS-RAEB, with isolated deletion 20q
Malignant disease
-
Inborn condition
-
Main items
Received unrelated donor hematopoietic cell transplantation (HCT) (02-2012).

Clinics case report

Age
38 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
2.58 (neutrophils 36.30%, lymphocytes 47%, monocytes 13.90%)
Hb
103
Platelets
42
Blasts
6.59
Bone marrow
5 the bone marrow was normocellular with 5% myeloblasts, 8% promyelocytes, with dysplasia in myeloid and erythroid lineages

Cyto path

Immunophenotype
There were 10% myeloid blasts positive for C34, CD117, CD13, CD33, and HLA-DR and partially positive for cMPO.
Precise diagnosis
Relapsed MDS-RAEB 4 months after unrelated donor HCT.

Survival data

Date diagnosis
02-2012
Treatment
Date of the first HCT: 02-2012, a second HCT: 10-2012
Complete remission
+ complete remission 1 month after the first HCT (03-2012)
Treatment relat death
died of acute graft versus host disease and serious infection
Relapse
four months after the first HCT (07-2012)
Status
D
Date last follow
12-2012
Survival
10 from the date of first HCT

Karyotype

Sample
Bone marrow
Culture time
24
Banding
G banding
Karyotype relapse
46,XX,del(20)(q11.2)[5]/46,XX,inv(11)(p15q22),del(13)(q22q32),add(16)(q22),add(19)(q13.3),del(20)(q11.2) [cp13]/46,XX [2]
Mol cytogenet technics
Karyotype 17 days after the second HCT: 46,XY[30]
Mol cytogenet results
Fluorescence in situ hybridization (FISH) result 17 days after the second HCT (using XY DNA probe): 99.8% XY signal (donor-originated)

Other molec studies

Technics
RT-PCR: Not done because no sample left to extract RNA.

Images

Atlas Image
Left: G-banded partial karyogram at relapse, showing the inv(11)(p15q22) and del(20)(q11). Right: FISH result using centromeric XY DNA probe (Vysis) after the second HCT showing 99.8% XY signal (donor-originated).
Atlas Image
Table 1. Summary of publicly reported cases with inv(11)(p15q22) and NUP98-DDX10 fusion gene.

Comments section

Comments
Until now 13 cases with inv(11)(p15q22) have been reported by literature review (Table 1). This inversion leads to fusion of DDX10, a putative RNA helicase gene at 11q22 with the nucleoporin gene NUP98 at 11p15. The previously described cases with this chromosome anomaly and NUP98-DDX10 fusion gene comprising 5 children,7 adults and 1 unknown. 8 cases had diagnosis of de novo or secondary AML, 4 cases had primary or therapy-related MDS, and one CML case was found with this chromosome abnormality in acute phase. NUP98-DDX10 fusion, another type of NUP98 rearrangements, might be associated with the poor clinical course.

Bibliography

Pubmed IDLast YearTitleAuthors
91668301997The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.Arai Y et al
102226531999The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.Ikeda T et al
157216302005Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia.Yamamoto M et al
159512872005Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization.Nebral K et al
171164922006Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia.Morerio C et al
164678682006NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.Romana SP et al

Citation

Yan Zhang, Xinjian Yu, Jinhong Liu

Inversion(11)(p15q22) as a secondary anomaly in a case of relapsed MDS-RAEB after unrelated donor hematopoietic cell transplantation

Atlas Genet Cytogenet Oncol Haematol. 2013-04-01

Online version: http://atlasgeneticsoncology.org/case-report/208865/inversion(11)(p15q22)-as-a-secondary-anomaly-in-a-case-of-relapsed-mds-raeb-after-unrelated-donor-hematopoietic-cell-transplantation