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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Translocation t(11;20)(p15;q11) detected in AML M0: A case report
 
Written2007-04Bani B Ganguly, Yogesh Loher, M B Agarwal
MGM Centre for Genetic Research and Diagnosis, MGM's New Bombay Hospital, Navi Mumbai, India (BBG); Hemato-oncology Department, Bombay Hospital and Research Centre, Mumbai, India (YL) (MBA)
Clinics
Age and sex : 28 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
blasts : 52 % .
Bone marrow : M:E ratio: 25:1, MPO negative, SBB negative
Cyto pathology classification
Cytology : AML
Immunophenotype : Positive for CD13, CD33 and CD117
Rearranged Ig Tcr : -
Pathology : MPO and SBB negative
Precise diagnosis : AML-M0 (FAB)
Survival
Date of diagnosis: 03-2007
Treatment : 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.
Complete remission : None
Treatment related death : -
Relapse : -
Status : Dead
Survival : 1 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24/48 h ; banding : G-banding
Results : 46,XX,t(11;20)(p15;q11) [100%, 24/24 cell]
Other molecular cytogenetics technics : FISH with WCP probes for chromosome 11
Other molecular cytogenetics results : 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.
G-banding shows t(11;20)(p15;q11); Interphase FISH with three signals of chromosome 11
Comments
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.
Internal links
Atlas Cardt(11;20)(p15;q12)
Bibliography
NUP98 gene fusions in hematologic malignancies.
Lam DH, Aplan PD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (11) : 1689-1695.
PMID 11681408
 
Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15).
Panagopoulos I, Fioretos T, Isaksson M, Larsson G, Billström R, Mitelman F, Johansson B
Genes, chromosomes & cancer. 2002 ; 34 (2) : 249-254.
PMID 11979559
 
Cellular roles of DNA topoisomerases: a molecular perspective.
Wang JC
Nature reviews. Molecular cell biology. 2002 ; 3 (6) : 430-440.
PMID 12042765
 
Generation of the NUP98-TOP1 fusion transcript by the t(11;20) (p15;q11) in a case of acute monocytic leukemia.
Chen S, Xue Y, Chen Z, Guo Y, Wu Y, Pan J
Cancer genetics and cytogenetics. 2003 ; 140 (2) : 153-156.
PMID 12645654
 
NUP98-topoisomerase I acute myeloid leukemia-associated fusion gene has potent leukemogenic activities independent of an engineered catalytic site mutation.
Gurevich RM, Aplan PD, Humphries RK
Blood. 2004 ; 104 (4) : 1127-1136.
PMID 15100157
 
A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia.
Potenza L, Sinigaglia B, Luppi M, Morselli M, Saviola A, Ferrari A, Riva G, Zucchini P, Giacobbi F, Emilia G, Temperani P, Torelli G
Cancer genetics and cytogenetics. 2004 ; 149 (2) : 164-168.
PMID 15036893
 
t(11;20)(p15;q11).
Sekikawa T, HoriguchiYamada J
Atlas Genet Cytogenet Oncol Haematol. 2005 ; 9 (numero 2) : 291-295.
 

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