Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient

British Journal of Haematology

Volumn 156, Issue 2, 2012, Pages 268-270

  Rao, Nisha ^a,b   Butcher, Carolyn M ^a   Lewis, Ian D ^c   Ross, David M ^d   Melo, Junia V ^b,c,e   Scott, Hamish S ^b,e,f   Bardy, Peter G ^a   D'Andrea, Richard J ^a,b,c,e  

^a QUEEN ELIZABETH HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c Division of Haematology   (Australia)

^d FLINDERS MEDICAL CENTRE   (Australia)

^e CENTRE FOR CANCER BIOLOGY   (Australia)

^f SA Pathology   (Australia)

Author keywords

DNMT3A; JAK2V617F; Myeloproliferative neoplasms

Indexed keywords

CD19 ANTIGEN;

ADULT; AGED; ALLELE; B LYMPHOCYTE; CD3+ T LYMPHOCYTE; DNMT3A GENE; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GRANULOCYTE; HETEROZYGOTE; HUMAN; HUMAN CELL; JAK2 GENE; LETTER; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYCYTHEMIA VERA; PRIORITY JOURNAL; UNITED KINGDOM;

AGED; CHRONIC DISEASE; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; POLYCYTHEMIA VERA; TUMOR MARKERS, BIOLOGICAL;

EID: 84860412654     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08837.x     Document Type: Letter

References (10)

1. Abdel-Wahab, O. (2011) Genetics of the myeloproliferative neoplasms. Current Opinion in Hematology, 18, 117-123.
2. Abdel-Wahab, O., Pardanani, A., Rampal, R., Lasho, T.L., Levine, R.L. & Tefferi, A. (2011) DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms. Leukemia, 25, 1219-1220.
3. Butcher, C.M., Hahn, U., To, L.B., Gecz, J., Wilkins, E.J., Scott, H.S., Bardy, P.G. & D'Andrea, R.J. (2008) Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia, 22, 870-873.
4. Jia, D., Jurkowska, R.Z., Zhang, X., Jeltsch, A. & Cheng, X. (2007) Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature, 449, 248-251.
5. 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. (2011) DNMT3A mutations in acute myeloid leukemia. New England Journal of Medicine, 363, 2424-2433.
6. Schaub, F.X., Looser, R., Li, S., Hao-Shen, H., Lehmann, T., Tichelli, A. & Skoda, R.C. (2011) Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood, 115, 2003-2007.
7. Stegelmann, F., Bullinger, L., Schlenk, R.F., Paschka, P., Griesshammer, M., Blersch, C., Kuhn, S., Schauer, S., Dohner, H. & Dohner, K. (2011) DNMT3A mutations in myeloproliferative neoplasms. Leukemia, 25, 1217-1219.
8. Tefferi, A. (2010) Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia, 24, 1128-1138.
9. Walter, M.J., Ding, L., Shen, D., Shao, J., Grillot, M., McLellan, M., Fulton, R., Schmidt, H., Kalicki-Veizer, J., O'Laughlin, M., Kandoth, C., Baty, J., Westervelt, P., Dipersio, J.F., Mardis, E.R., Wilson, R.K., Ley, T.J. & Graubert, T.A. (2011) Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia, 25, 1153-1158.
10. Yan, X.J., Xu, J., Gu, Z.H., Pan, C.M., Lu, G., Shen, Y., Shi, J.Y., Zhu, Y.M., Tang, L., Zhang, X.W., Liang, W.X., Mi, J.Q., Song, H.D., Li, K.Q., Chen, Z. & Chen, S.J. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nature Genetics, 43, 309-315.