Molecular lesions in childhood and adult acute megakaryoblastic leukaemia

British Journal of Haematology

Volumn 156, Issue 3, 2012, Pages 316-325

  Hama, Asahito ^a   Muramatsu, Hideki ^a,b   Makishima, Hideki ^b   Sugimoto, Yuka ^b   Szpurka, Hadrian ^b   Jasek, Monika ^b   O'Keefe, Christine ^b   Takahashi, Yoshiyuki ^a   Sakaguchi, Hirotoshi ^a   Doisaki, Sayoko ^a   Shimada, Akira ^a   Watanabe, Nobuhiro ^c   Kato, Koji ^d   Kiyoi, Hitoshi ^e   Naoe, Tomoki ^a   Kojima, Seiji ^a   Maciejewski, Jaroslaw P ^b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TAUSSIG CANCER INSTITUTE   (United States)

^c SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^d JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^e NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Acute megakaryoblastic leukaemia; Children; Chromosome abnormality; Down syndrome; Single nucleotide polymorphism array

Indexed keywords

ACUTE MEGAKARYOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; ASXL1 GENE; BONE MARROW TRANSPLANTATION; CANCER MORTALITY; CANCER SURVIVAL; CBL GENE; CHILD; CHROMOSOME 13Q; CHROMOSOME 17Q; CHROMOSOME 1Q; CHROMOSOME 21; CHROMOSOME 2Q; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CHROMOSOME DAMAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; COMORBIDITY; CONTROLLED STUDY; CORD BLOOD STEM CELL TRANSPLANTATION; DISEASE ASSOCIATION; DNMT3A GENE; DOWN SYNDROME; FEMALE; GATA1 GENE; GENE; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; IDH1 GENE; IDH2 GENE; JAK2 GENE; JAK3 GENE; KARYOTYPING; MALE; MUTATIONAL ANALYSIS; NUMERICAL CHROMOSOME ABERRATION; ONCOGENE N RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; RUNX1 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TP53 GENE; TRISOMY 21; TRISOMY 8;

ADULT; AGE OF ONSET; ANEUPLOIDY; CHILD; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DOWN SYNDROME; FEMALE; GENES, NEOPLASM; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; MALE; MIDDLE AGED; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84855770637     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08948.x     Document Type: Article

References (38)

1. Ahmed, M., Sternberg, A., Hall, G., Thomas, A., Smith, O., O'Marcaigh, A., Wynn, R., Stevens, R., Addison, M., King, D., Stewart, B., Gibson, B., Roberts, I. & Vyas, P. (2004) Natural history of GATA1 mutations in Down syndrome. Blood, 103, 2480-2489.
2. Akahoshi, M., Oshimi, K., Mizoguchi, H., Okada, M., Enomoto, Y. & Watanabe, Y. (1987) Myeloproliferative disorders terminating in acute megakaryoblastic leukemia with chromosome 3q26 abnormality. Cancer, 60, 2654-2661.
3. Chou, W.C., Huang, H.H., Hou, H.A., Chen, C.Y., Tang, J.L., Yao, M., Tsay, W., Ko, B.S., Wu, S.J., Huang, S.Y., Hsu, S.C., Chen, Y.C., Huang, Y.N., Chang, Y.C., Lee, F.Y., Liu, M.C., Liu, C.W., Tseng, M.H., Huang, C.F. & Tien, H.F. (2010) Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood, 116, 4086-4094.
4. Davidsson, J., Andersson, A., Paulsson, K., Heidenblad, M., Isaksson, M., Borg, A., Heldrup, J., Behrendtz, M., Panagopoulos, I., Fioretos, T. & Johansson, B. (2007) Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3. Human Molecular Genetics, 16, 2215-2225.
5. De Vita, S., Mulligan, C., McElwaine, S., Dagna-Bricarelli, F., Spinelli, M., Basso, G., Nizetic, D. & Groet, J. (2007) Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. British Journal of Haematology, 137, 337-341.
6. Dunbar, A.J., Gondek, L.P., O'Keefe, C.L., Makishima, H., Rataul, M.S., Szpurka, H., Sekeres, M.A., Wang, X.F., McDevitt, M.A. & Maciejewski, J.P. (2008) 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Research, 68, 10349-10357.
7. Forestier, E., Izraeli, S., Beverloo, B., Haas, O., Pession, A., Michalova, K., Stark, B., Harrison, C.J., Teigler-Schlegel, A. & Johansson, B. (2008) Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study. Blood, 111, 1575-1583.
8. Gaidzik, V.I., Bullinger, L., Schlenk, R.F., Zimmermann, A.S., Rock, J., Paschka, P., Corbacioglu, A., Krauter, J., Schlegelberger, B., Ganser, A., Spath, D., Kundgen, A., Schmidt-Wolf, I.G., Gotze, K., Nachbaur, D., Pfreundschuh, M., Horst, H.A., Dohner, H. & Dohner, K. (2011) RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. Journal of Clinical Oncology, 29, 1364-1372.
9. Gondek, L.P., Dunbar, A.J., Szpurka, H., McDevitt, M.A. & Maciejewski, J.P. (2007) SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PLoS ONE, 2, e1225.
10. Gondek, L.P., Tiu, R., O'Keefe, C.L., Sekeres, M.A., Theil, K.S. & Maciejewski, J.P. (2008) Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood, 111, 1534-1542.
11. Hama, A., Yagasaki, H., Takahashi, Y., Kiyoi, H., Naoe, T. & Kojima, S. (2008a) Mutations of JAK2, JAK3 and GATA1 in acute megakaryoblastic leukemia of Down syndrome. Blood, 111, 2493-2494.
12. Hama, A., Yagasaki, H., Takahashi, Y., Nishio, N., Muramatsu, H., Yoshida, N., Tanaka, M., Hidaka, H., Watanabe, N., Yoshimi, A., Matsumoto, K., Kudo, K., Kato, K., Horibe, K. & Kojima, S. (2008b) Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome. British Journal of Haematology, 140, 552-561.
13. Hayashi, Y., Eguchi, M., Sugita, K., Nakazawa, S., Sato, T., Kojima, S., Bessho, F., Konishi, S., Inaba, T. & Hanada, R. (1988) Cytogenetic findings and clinical features in acute leukemia and transient myeloproliferative disorder in Down's syndrome. Blood, 72, 15-23.
14. Hirose, Y., Kudo, K., Kiyoi, H., Hayashi, Y., Naoe, T. & Kojima, S. (2003) Comprehensive analysis of gene alterations in acute megakaryoblastic leukemia of Down's syndrome. Leukemia, 17, 2250-2252.
15. Ijichi, N., Shigekawa, T., Ikeda, K., Horie-Inoue, K., Fujimura, T., Tsuda, H., Osaki, A., Saeki, T. & Inoue, S. (2011) Estrogen-related receptor gamma modulates cell proliferation and estrogen signaling in breast cancer. Journal of Steroid Biochemistry and Molecular Biology, 123, 1-7.
16. Johansson, B., Mertens, F. & Mitelman, F. (1995) Cytogenetic evolution patterns in non-Hodgkin's lymphoma. Blood, 86, 3905-3914.
17. Johansson, B., Mertens, F. & Mitelman, F. (2004) Clinical and biological importance of cytogenetic abnormalities in childhood and adult acute lymphoblastic leukemia. Annals of Medicine, 36, 492-503.
18. Kiyoi, H., Yamaji, S., Kojima, S. & Naoe, T. (2007) JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. Leukemia, 21, 574-576.
19. Klusmann, J.H., Reinhardt, D., Hasle, H., Kaspers, G.J., Creutzig, U., Hahlen, K., van den Heuvel-Eibrink, M.M. & Zwaan, C.M. (2007) Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome. Leukemia, 21, 1584-1587.
20. Kohlmann, A., Grossmann, V., Klein, H.U., Schindela, S., Weiss, T., Kazak, B., Dicker, F., Schnittger, S., Dugas, M., Kern, W., Haferlach, C. & Haferlach, T. (2010) Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. Journal of Clinical Oncology, 28, 3858-3865.
21. Ley, T.J., Ding, L., Walter, M.J., McLellan, M.D., Lamprecht, T., Larson, D.E., Kandoth, C., Payton, J.E., Baty, J., Welch, J., Harris, C.C., Lichti, C.F., Townsend, R.R., Fulton, R.S., Dooling, D.J., Koboldt, D.C., Schmidt, H., Zhang, Q., Osborne, J.R., Lin, L., O'Laughlin, M., McMichael, J.F., Delehaunty, K.D., McGrath, S.D., Fulton, L.A., Magrini, V.J., Vickery, T.L., Hundal, J., Cook, L.L., Conyers, J.J., Swift, G.W., Reed, J.P., Alldredge, P.A., Wylie, T., Walker, J., Kalicki, J., Watson, M.A., Heath, S., Shannon, W.D., Varghese, N., Nagarajan, R., Westervelt, P., Tomasson, M.H., Link, D.C., Graubert, T.A., DiPersio, J.F., Mardis, E.R. & Wilson, R.K. (2010) DNMT3A mutations in acute myeloid leukemia. New England Journal of Medicine, 363, 2424-2433.
22. Makishima, H., Cazzolli, H., Szpurka, H., Dunbar, A., Tiu, R., Huh, J., Muramatsu, H., O'Keefe, C., Hsi, E., Paquette, R.L., Kojima, S., List, A.F., Sekeres, M.A., McDevitt, M.A. & Maciejewski, J.P. (2009) Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. Journal of Clinical Oncology, 27, 6109-6116.
23. Malinge, S., Ragu, C., Della-Valle, V., Pisani, D., Constantinescu, S.N., Perez, C., Villeval, J.L., Reinhardt, D., Landman-Parker, J., Michaux, L., Dastugue, N., Baruchel, A., Vainchenker, W., Bourquin, J.P., Penard-Lacronique, V. & Bernard, O.A. (2008) Activating mutations in human acute megakaryoblastic leukemia. Blood, 112, 4220-4226.
24. Malkin, D., Brown, E.J. & Zipursky, A. (2000) The role of p53 in megakaryocyte differentiation and the megakaryocytic leukemias of Down syndrome. Cancer Genetics and Cytogenetics, 116, 1-5.
25. Mesa, R.A., Li, C.Y., Ketterling, R.P., Schroeder, G.S., Knudson, R.A. & Tefferi, A. (2005) Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood, 105, 973-977.
26. Mitelman, F., Johansson, B. & Mertens, F. (eds) (2011) Mitelman database of chromosome aberrations and gene fusions in cancer (2011).
27. Nakatani, K., Thompson, D.A., Barthel, A., Sakaue, H., Liu, W., Weigel, R.J. & Roth, R.A. (1999) Up-regulation of Akt3 in estrogen receptor-deficient breast cancers and androgen-independent prostate cancer lines. Journal of Biological Chemistry, 274, 21528-21532.
28. Nilsson, T., Hoglund, M., Lenhoff, S., Rylander, L., Turesson, I., Westin, J., Mitelman, F. & Johansson, B. (2003) A pooled analysis of karyotypic patterns, breakpoints and imbalances in 783 cytogenetically abnormal multiple myelomas reveals frequently involved chromosome segments as well as significant age- and sex-related differences. British of Journal Haematology, 120, 960-969.
29. Radaelli, F., Mazza, R., Curioni, E., Ciani, A., Pomati, M. & Maiolo, A.T. (2002) Acute megakaryocytic leukemia in essential thrombocythemia: an unusual evolution? European Journal of Haematology, 69, 108-111.
30. Rainis, L., Bercovich, D., Strehl, S., Teigler-Schlegel, A., Stark, B., Trka, J., Amariglio, N., Biondi, A., Muler, I., Rechavi, G., Kempski, H., Haas, O.A. & Izraeli, S. (2003) Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood, 102, 981-986.
31. Sanada, M., Suzuki, T., Shih, L.Y., Otsu, M., Kato, M., Yamazaki, S., Tamura, A., Honda, H., Sakata-Yanagimoto, M., Kumano, K., Oda, H., Yamagata, T., Takita, J., Gotoh, N., Nakazaki, K., Kawamata, N., Onodera, M., Nobuyoshi, M., Hayashi, Y., Harada, H., Kurokawa, M., Chiba, S., Mori, H., Ozawa, K., Omine, M., Hirai, H., Nakauchi, H., Koeffler, H.P. & Ogawa, S. (2009) Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature, 460, 904-908.
32. Silva, M.L., do Socorro Pombo-de-Oliveira, M., Raimondi, S.C., Mkrtchyan, H., Abdelhay, E., de Figueiredo, A.F., de Souza, M.T., Garcia, D.R., de Ventura, E.M., de Sousa, A.M. & Liehr, T. (2009) Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia. Molecular Cytogenetics, 2, 7.
33. Stahl, J.M., Sharma, A., Cheung, M., Zimmerman, M., Cheng, J.Q., Bosenberg, M.W., Kester, M., Sandirasegarane, L. & Robertson, G.P. (2004) Deregulated Akt3 activity promotes development of malignant melanoma. Cancer Research, 64, 7002-7010.
34. Sugimoto, Y., Muramatsu, H., Makishima, H., Prince, C., Jankowska, A.M., Yoshida, N., Xu, Y., Nishio, N., Hama, A., Yagasaki, H., Takahashi, Y., Kato, K., Manabe, A., Kojima, S. & Maciejewski, J.P. (2010) Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. British Journal of Haematology, 150, 83-87.
35. Walters, D.K., Mercher, T., Gu, T.L., O'Hare, T., Tyner, J.W., Loriaux, M., Goss, V.L., Lee, K.A., Eide, C.A., Wong, M.J., Stoffregen, E.P., McGreevey, L., Nardone, J., Moore, S.A., Crispino, J., Boggon, T.J., Heinrich, M.C., Deininger, M.W., Polakiewicz, R.D., Gilliland, D.G. & Druker, B.J. (2006) Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell, 10, 65-75.
36. Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M. & Crispino, J.D. (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nature Genetics, 32, 148-152.
37. Yan, H., Parsons, D.W., Jin, G., McLendon, R., Rasheed, B.A., Yuan, W., Kos, I., Batinic-Haberle, I., Jones, S., Riggins, G.J., Friedman, H., Friedman, A., Reardon, D., Herndon, J., Kinzler, K.W., Velculescu, V.E., Vogelstein, B. & Bigner, D.D. (2009) IDH1 and IDH2 mutations in gliomas. New England Journal of Medicine, 360, 765-773.
38. Zipursky, A., Poon, A. & Doyle, J. (1992) Leukemia in Down syndrome: a review. Pediatric Hematology and Oncology, 9, 139-149.