-

-

-

Fever and weakness since one month

28 yrs

F

-

-

-

-

52

M:E ratio: 25:1, MPO negative, SBB negative

AML

Positive for CD13, CD33 and CD117

-

MPO and SBB negative

AML-M0 (FAB)

03-2007

7+3 protocol (7 days of cytosine arabinoside continuous infusion + 3 doses of Daunorubicin), patient did not respond. Hence, she was treated with high dose of cytosine arabinoside together with etoposide; however, she didn t respond. In view of poor prognosis, she was discharged on 25/03/2007 and died on 26/03/2007.

-

-

-

D

1

Bone marrow

24/48

G-banding

46,XX,t(11;20)(p15;q11) [100%, 24/24 cell]

FISH with WCP probes for chromosome 11

Three spots of 11 in interphase cells. Due to low mitotic index metaphases could not be spotted. No more material could be tested for NUP98 and TOP1 fusion.

Chromosomal rearrangement between 11p15 and 20q11 has been reported in hematologic malignancies (Lam and Aplan, 2001), which results in fusion of the nucleoporin gene, NUP98 on chromosome 11p15 with topoisomerase 1, TOP1 gene located at 20q11. The NUP98 is a member of nuclear pore complex and involved in nuclear-cytosolic transport of RNA and protein complexes, and TOP1 is a protein whose c-terminus site of active tyrosine forms phosphodiester bond with 3 -strand of DNA and generates transient single strand DNA breaks (Wang 2002). In t(11;20), the rearrangement generates NUP98-TOP1 fusion protein from fusion of N-terminal portion of NUP98 (1-514) with most of TOP1 gene (170-765), including core, linker and catalytic domains (Gurevich et al. 2004). It has been suggested that the NUP98-TOP1 has leukemogenic activities independent of topoisomerase activity. The t(11;20) has also been described in patients with polycythemia vera, T-MDS and acute myeloid leukemia (Chen et al. 2003, Potenza et al. 2004, Panagopoulos et al. 2002). Our case aged 28 years with 60 kg weight has been reported with AML-M0 and probable NUP98 and TOP1 fusion. In addition, del(3p), inv(X) and der(7) was observed in one single cell. Short survival of 2.5 - 30 months was reported after diagnosis (Sekikawa and Horiguchi-yamada, 2005). Our patient got the shortest survival of 23 days after diagnosis.