+ previous diagnosed as MDS-RAEB, with isolated deletion 20q

-

-

Received unrelated donor hematopoietic cell transplantation (HCT) (02-2012).

38 yrs

F

-

-

-

-

2.58 (neutrophils 36.30%, lymphocytes 47%, monocytes 13.90%)

103

42

6.59

5 the bone marrow was normocellular with 5% myeloblasts, 8% promyelocytes, with dysplasia in myeloid and erythroid lineages

There were 10% myeloid blasts positive for C34, CD117, CD13, CD33, and HLA-DR and partially positive for cMPO.

Relapsed MDS-RAEB 4 months after unrelated donor HCT.

02-2012

Date of the first HCT: 02-2012, a second HCT: 10-2012

+ complete remission 1 month after the first HCT (03-2012)

died of acute graft versus host disease and serious infection

four months after the first HCT (07-2012)

D

12-2012

10 from the date of first HCT

Bone marrow

24

G banding

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]

Karyotype 17 days after the second HCT: 46,XY[30]

Fluorescence in situ hybridization (FISH) result 17 days after the second HCT (using XY DNA probe): 99.8% XY signal (donor-originated)

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

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.