Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| Translocation t(11;20)(p15;q11) detected in AML M0: A case report |
| Bani B Ganguly, Yogesh Loher, M B Agarwal |
| 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% |
| 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 Card | t(11;20)(p15;q12) |
| Bibliography |
| NUP98 gene fusions in hematologic malignancies. |
| Lam DH, Aplan PD. |
| Leukemia 2001, 15: 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, Billstrom R, Mitelman F, Johansson B. |
| Genes Chromosome Cancer 2002; 34(2): 249-254. |
| PMID 11979559 |
| Cellular roles of DNA topoisomerases: a molecular perspective. |
| Wang JC. |
| Nat Rev Mol Cell Biol 2002; 3: 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, Pan J. |
| Cancer Genet Cytogenet 2003; 140(2): 153-156. |
| PMID 12645654 |
| NUP98-Topoisomerase 1 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: 1127-1136. |
| PMID 15100157 |
| A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myeloid leukemia. |
| Potenza L, Sinigaglia B, Luppi M, Morselli M, Saviola A, Ferrari A, Riva G, Giacobbi F, Emilia G, Temperani P, Torelli G. |
| Cancer Genet Cytogenet 2004; 149(2): 164-168. |
| PMID 15036893 |
| t(11;20)(p15;q11). |
| Sekikawa T, Horiguchi-Yamada J. |
| Atlas Genet Cytogenet Oncol Haematol 2005; 9(2): 291-295. |
| Contributor(s) |
| Written | 04-2007 | Bani B Ganguly, Yogesh Loher, M B Agarwal |
| Citation |
| This paper should be referenced as such : |
| Ganguly BB, Loher Y, Agarwal MB . Translocation t(11;20)(p15;q11) detected in AML M0: A case report. Atlas Genet Cytogenet Oncol Haematol. April 2007 . URL : http://AtlasGeneticsOncology.org/Reports/1120GangulyID100028.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Apr 17 14:15:26 2008 |
For comments and suggestions or contributions, please contact us