Rare t(1;11)(q23;p15) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature

Cancer Genetics and Cytogenetics

Volumn 178, Issue 1, 2007, Pages 42-48

  Zhang, Ling ^a   Alsabeh, Randa ^a   Mecucci, Cristina ^b   La Starza, Roberta ^b   Gorello, Paolo ^b   Lee, Stephen ^a   Lill, Michael ^a   Schreck, Rhona ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b Hematology   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DOXORUBICIN; IFOSFAMIDE;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE MYELOMONOCYTIC LEUKEMIA; AGED; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLONE; CYTOGENETICS; DISEASE COURSE; HUMAN; LIPOSARCOMA; MALE; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL;

ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 11; DISEASE PROGRESSION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKEMIA, MYELOMONOCYTIC, ACUTE; MALE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; NEUTROPHILS; TRANSLOCATION, GENETIC;

EID: 34548750343     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.06.012     Document Type: Article

References (38)

1. Jaffe E.S., Harris N.L., Stein H., and Vardiman J.W. World Health Organization Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues (2001), IARCP Press, Lyon pp. 61-74, 89-91
2. Rowley J.D., and Olney H.J. International workshop on the relationship of prior therapy to balanced chromosome aberrations in therapy-related myelodysplastic syndromes and acute leukemia: overview report. Genes Chromosomes Cancer 33 (2002) 331-345
3. Blanco J.G., Edick M.J., and Relling M.V. Etoposide induces chimeric MLL gene fusions. FASEB 18 (2004) 173-175
4. Gurevich R.M., Aplan P.D., and Humphries R.K. NUP98-Topoisomerase I acute myeloid leukemia-associated fusion gene has potent leukemogenic activities independent of an engineered catalytic site mutation. Blood 104 (2004) 1127-1136
5. Kobzev Y.N., Martinez-Climent J., Lee S., Chen J., and Rowley J.D. Analysis of translocations that involve the NUP98 gene in patients with 11p15 chromosomal rearrangements. Genes Chromosomes Cancer 41 (2004) 339-352
6. Hussey D.J., and Dobrovic A. Recurrent coiled-coil motifs in NUP98 fusion partners provide a clue to leukemogenesis. Blood 99 (2002) 1097
7. Arai Y., Hosoda F., Kobayshi H., Arai K., Hayashi Y., Kamada N., Kaneko Y., and Ohki M. The 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, DDX10. Blood 89 (1997) 3936-3944
8. Lam D.H., and Aplan P.D. NUP98 gene fusions in hematologic malignancies. Leukemia 15 (2001) 1689-1695
9. Lahortiga I., Vizmanos J.L., Agirre X., Vazquez I., Cigudosa J.C., Larravoz M.J., Sala F., Gorosquieta A., Perez-Equiza K., Calasanz M.J., and Odero M.D. NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). Cancer Res 63 (2003) 3079-3083
10. Romana S.P., Radford-Weiss I., Bed Abdelali R., Schluth C., Petit A., Dastugue N., Talmant P., Bilhou-Nabera C., Mugneret F., Lafage-Pochitaloff M., Mozziconacci M.-J., Andrieu J., Lai J.-L., Terre C., Rack K., Cornillet-Lefebvre P., Lquet I., Nadal N., Nguyen-Khac F., Perot C., Van den Akker J., Fert-Ferrer S., Cabrol C., Charrin C., Tigaud I., Poirel H., Vekemans M., Bernaard O.A., Berger R., and on behalf of the Groupe Francophone de Cytogenetique. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique. Leukemia 20 (2006) 696-706
11. Nakamura T., Yamazaki Y., Hatano Y., and Miura I. N. NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15). Blood 94 (1999) 741-747
12. Raza-Egilmez S.Z., Jani-Sait S.N., Grossi M., Higgins M.J., Shows T.B., and Aplan P.D. NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia. Cancer Res 58 (1998) 4269-4273
13. Shimada H., Arai Y., Sekiguchi S., Ishii T., Tanitsu S., and Sasaki M. Generation of the NUP98-HOXD13 fusion transcript by a rare translocation, t(2;11)(q31;p15), in a case of infant leukemia. Br J Haematol 110 (2000) 210-221
14. Terui K., Kitazawa J., Jakahashi Y., Tohno C., Hayashi Y., Taketani T., Taki T., and Ito E. Successful treatment of acute myelomonocytic leukaemia with NUP98-HOXD11 fusion transcripts and monitoring of minimal residual disease. Br J Haematol 120 (2003) 274-276
15. Stark B., Jeison M., Shohat M., Goshen Y., Vogel R., Cohen I.J., Yaniv I., Kaplinsky C., and Zaizov R. Involvement of 11p15 and 3q21q26 in therapy-related myeloid leukemia (t-ML) in children. Cancer Genet Cytogenet 75 (1994) 11-22
16. Mecucci C., La Starza R., Negrini M., Sabbioni S., Crescenzi B., Leoni P., Di Raimondo F., Krampera M., Cimino G., Tafuri A., Cuneo A., Vitale A., and Foa R. t(4;11)(q21;p15) translocation involving NUP98 and RAP1GDS1 genes: characterization of a new subset of T acute lymphoblastic leukemia. Br J Hematol 109 (2000) 788-793
17. Jaju R.J., Filder C., Haas O.A., Strickson A.J., Watkins F., Clark K., Cross N.C., Cheng J.F., Aplan P.D., Kearney L., Boultwood J., and Wainscoat J.S. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood 98 (2001) 1264-1267
18. Yamamoto K., Nakamura Y., Nakamura Y., Saito K., and Furusawa S. Expression of NUP98/HOXA9 fusion transcript in the blast crisis of Philadelphia chromosome-positive chronic myelogenous leukemia with t(7;11)(p15;p15). Br J Haematol 109 (2000) 423-426
19. Hatano Y., Miura I., Kume M., and Miura A.B. Translocation (1;11)(q23;p15), a novel simple variant of translocation (7;11)(p15;p15), in a patient with AML (M2) accompanied by non-Hodgkin lymphoma and gastric cancer. Cancer Genet Cytogenet 117 (2000) 19-23
20. Borrow J., Shearman A.M., Stanon Jr. V.P., Becher R., Collins T., Williams A.J., Dube I., Katz F., Kwong Y.L., Morris C., Ohyashiki K., Tayama K., Rowley J., and Housman D.E. The t(7;11)(p15;p15) translocation in acute myeloid leukemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOX9. Nat Genet 12 (1996) 159-167
21. Suzuki A., Ito Y., Sashida G., Honda S., Katagiri T., Fujino T., Nakamura T., and Ohyashiki K. t(7;11)(p15;p15) Chronic myeloid leukemia developed into blastic transformation showing a novel NUP98/HOXA11 fusion. Br J Haematol 116 (2002) 170-172
22. Taketami T., Taki T., Ono R., Kobayashi Y., Ida K., and Hayashi Y. The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9. Genes Chromosomes Cancer 34 (2002) 437-443
23. Rosati R., Starza R.L., Veroese A., Aventin A., Schienbacher C., Vallespi T., Negrini M., Marteli M.F., and Mecucci C. NUP98 is fused to NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood 99 (2002) 3857-3860
24. Ahuja H.C., Hong J., Aplan P.D., Tcheurekdjian L., Forman S.J., and Slovak M.L. T(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene coding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF). Cancer Res 60 (2000) 6227-6229
25. Kobayashi H., Arai Y., Hosoda F., Maseki N., Hayashi Y., Eguchi H., Ohki M., and Kaneko Y. Inversion of chromosome 11, inv(11)(p15;q22), as a recurring chromosomal aberration associated with de novo and secondary myeloid malignancies: identification of a P1 clone spanning the 11q22 breakpoint. Genes Chromosomes Cancer 19 (1997) 150-155
26. Gu B.W., Wang Q., Wang J.M., Xue Y.Q., Fang J., Wong K.F., Chen B., Shi Z.Z., Shi J.Y., Bai X.T., Wu D.H., Chen Z., and Chen S.J. Major form of NUP98/HOXC11 fusion in adult AML with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity. Leukemia 17 (2003) 1858-1864
27. La Starza R., Trubia M., Crescenzi B., Matteucci C., Negrini M., Martelli M.F., Pelicci P.G., and Mecucci C. Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13). Genes Chromosomes Cancer 36 (2003) 420-423
28. Nishivama M., Arai Y., Tsunematsu Y., Kobayashi H., Asami K., Yabe M., Kato S., Oda M., Eguchi H., Ohki M., and Kaneko Y. 11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome. Genes Chromosomes Cancer 26 (1999) 215-220
29. Ahuja H.G., Felix C.A., and Aplan P.D. t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in a NUP-98-TOP1 fusion. Blood 94 (1999) 3258-3261
30. Abramovich C., Pineault N., Ohta H., and Humphries R.K. Hox genes: from leukemia to hematopoietic stem cell expansion. Ann NY Acad Sci 1044 (2005) 109-116
31. Xue Y., Guo Y., and Xie X. Translocation t(7;11)(p15;p15) in a patient with therapy-related acute myeloid leukemia following bimolane and ICRF-154 therapy for psoriasis. Leuk Res 21 (1997) 107-109
32. Bai X.T., Gu B.W., Yin T., Niu C., Xi X.D., and Zhang J. Trans-Repressive effect of NUP98-PMX1 on PMX1-regulated c-FOS gene through recruitment of histone deacetylase 1 by FG repeats. Cancer Res 66 (2006) 4584-4590
33. Dewald G.W., and Ketterling R.P. Conventional cytogenetics and molecular cytogenetics in hematologic malignancies. In: Hoffman R. (Ed). Hematology: Basic Principles and Practice. 4th ed. (2005), Elsevier, Churchill Livingstone, London 928-939
34. Thirman M.J., and Larson R.A. Therapy-related myeloid leukemia. Hematol Oncol Clin N Am 10 (1996) 293-320
35. Rund D., and Ben-Yehuda D. Therapy-related leukemia and myelodysplasia: evolving concepts of pathogenesis and treatment. Hematology 9 (2004) 178-187
36. Radu A., Moore M.S., and Blobel G. The peptide repeat domain of nucleoporin NUP98 functions as a docking site in transport across the nuclear pore complex. Cell 81 (1995) 215-222
37. Krumlauf R. Hox genes in vertebrate development. Cell 78 (1994) 191-201
38. Wang Y., Gu M.M., Tan Y., Lu S.Y., Wang L., Kong H., Sun Y.P., Lu Z., Chen S.J., Wang Z.Y., and Wang Z.G. Development of human myeloid leukemia-like phenotype in NUP98-PMX1 transgenic mice. Zhonghua Xue Ye Xue Za Zhi 25 (2004) 262-265