Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation

British Journal of Haematology

Volumn 151, Issue 5, 2010, Pages 528-530

  Linden, Tobias ^a   Schnittger, Susanne ^b   Groll, Andreas H ^a   Juergens, Heribert ^a   Rossig, Claudia ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Max Lebsche Platz   (Germany)

Author keywords

Acute leukaemia; FPD AML; Genetic disorders; Paediatric haematology; Thrombocytopenia

Indexed keywords

ANTINEOPLASTIC AGENT; TRANSCRIPTION FACTOR RUNX1;

ACUTE LYMPHOBLASTIC LEUKEMIA; BLOOD CELL COUNT; CANCER REGRESSION; CASE REPORT; CHILD; CHILDHOOD CANCER; CHROMOSOME 12P; CHROMOSOME 21Q; FEMALE; GENE MUTATION; HUMAN; LETTER; LEUKOCYTE COUNT; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TETRASOMY; THROMBOCYTOPENIA; TRISOMY 12;

CHILD, PRESCHOOL; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FEMALE; HUMANS; MUTATION; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; THROMBOCYTOPENIA;

EID: 78349287321     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08370.x     Document Type: Letter

References (10)

1. Heller, P.G., Glembotsky, A.C., Gandhi, M.J., Cummings, C.L., Pirola, C.J., Marta, R.F., Kornblihtt, L.I., Drachman, J.G. & Molinas, F.C. (2005) Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood, 105, 4664-4670.
2. Ichikawa, M., Asai, T., Saito, T., Seo, S., Yamazaki, I., Yamagata, T., Mitani, K., Chiba, S., Ogawa, S., Kurokawa, M. & Hirai, H. (2004) AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. Nature Medicine, 10, 299-304.
3. Jongmans, M.C., Kuiper, R.P., Carmichael, C.L., Wilkins, E.J., Dors, N., Carmagnac, A., Schouten-van Meeteren, A.Y., Li, X., Stankovic, M., Kamping, E., Bengtsson, H., Schoenmakers, E.F., Van Kessel, A.G., Hoogerbrugge, P.M., Hahn, C.N., Brons, P.P., Scott, H.S. & Hoogerbrugge, N. (2010) Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia, 24, 242-246.
4. Kundu, M., Compton, S., Garrett-Beal, L., Stacy, T., Starost, M.F., Eckhaus, M., Speck, N.A. & Liu, P.P. (2005) Runx1 deficiency predisposes mice to T-lymphoblastic lymphoma. Blood, 106, 3621-3624.
5. Liu, X., Zhang, Q., Zhang, D.E., Zhou, C., Xing, H., Tian, Z., Rao, Q., Wang, M. & Wang, J. (2009) Overexpression of an isoform of AML1 in acute leukemia and its potential role in leukemogenesis. Leukemia, 23, 739-745.
6. Preudhomme, C., Renneville, A., Bourdon, V., Philippe, N., Roche-Lestienne, C., Boissel, N., Dhedin, N., Andre, J.M., Cornillet-Lefebvre, P., Baruchel, A., Mozziconacci, M.J. & Sobol, H. (2009) High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood, 113, 5583-5587.
7. Putz, G., Rosner, A., Nuesslein, I., Schmitz, N. & Buchholz, F. (2006) AML1 deletion in adult mice causes splenomegaly and lymphomas. Oncogene, 25, 929-939.
8. Shurtleff, S.A., Buijs, A., Behm, F.G., Rubnitz, J.E., Raimondi, S.C., Hancock, M.L., Chan, G.C., Pui, C.H., Grosveld, G. & Downing, J.R. (1995) TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia, 9, 1985-1989.
9. Song, W.J., Sullivan, M.G., Legare, R.D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I.C., Haworth, C., Hock, R., Loh, M., Felix, C., Roy, D.C., Busque, L., Kurnit, D., Willman, C., Gewirtz, A.M., Speck, N.A., Bushweller, J.H., Li, F.P., Gardiner, K., Poncz, M., Maris, J.M. & Gilliland, D.G. (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genetics, 23, 166-175.
10. Trevino, L.R., Yang, W., French, D., Hunger, S.P., Carroll, W.L., Devidas, M., Willman, C., Neale, G., Downing, J., Raimondi, S.C., Pui, C.H., Evans, W.E. & Relling, M.V. (2009) Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nature Genetics, 41, 1001-1005.