Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia

Platelets

Volumn 25, Issue 4, 2014, Pages 300-302

  Toya, Takashi ^a   Yoshimi, Akihide ^a   Morioka, Takehiko ^b   Arai, Shunya ^a   Ichikawa, Motoshi ^a   Usuki, Kensuke ^b   Kurokawa, Mineo ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Kanto Teishin Hospital   (Japan)

Author keywords

BRAF; Familial platelet disorder with predisposition to acute myeloid leukemia; Hairy cell leukemia; RUNX1

Indexed keywords

B RAF KINASE; CD103 ANTIGEN; CD19 ANTIGEN; CD20 ANTIGEN; CD22 ANTIGEN; CD79A ANTIGEN; CLADRIBINE; GLYCOPROTEIN P 15095; HLA DR ANTIGEN; INTERLEUKIN 2 RECEPTOR ALPHA; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; AGED; ANEMIA; ARTICLE; BONE MARROW EXAMINATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE PREDISPOSITION; GENE MUTATION; HAIRY CELL LEUKEMIA; HUMAN; LEUKOCYTOSIS; MALE; NEUTROPENIA; PRIORITY JOURNAL; SPLENOMEGALY; THROMBOCYTOPENIA; BIOPSY; BLOOD PLATELET DISORDERS; BONE MARROW; COMPLICATION; GENETICS; GERMLINE MUTATION; HOMOZYGOTE; LEUKEMIA, HAIRY CELL; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

AGED; BIOPSY; BLOOD PLATELET DISORDERS; BONE MARROW; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; LEUKEMIA, HAIRY CELL; MALE; PEDIGREE; SPLENOMEGALY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84899934761     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.3109/09537104.2013.818636     Document Type: Article

References (13)

1. Dowton SB, Beardsley D, Jamison D, Blattner S, Li FP. Studies of a familial platelet disorder. Blood 1985;65:557-563
2. Harada Y, Harada H. Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations. J Cell Physiol 2009; 220:16-20
3. Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon MC, Sinclair GD, Leber B, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008;112: 4639-4645
4. Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, Dhedin N, Andre JM, Cornillet-Lefebvre P, Baruchel A, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009;113:5583-5587
5. Nishimoto N, Imai Y, Ueda K, Nakagawa M, Shinohara A, Ichikawa M, Nannya Y, Kurokawa M. T cell acute lymphoblastic leukemia arising from familial platelet disorder. Int J Hematol 2010;92: 194-197
6. Gu TL, Goetz TL, Graves BJ, Speck NA. Auto-inhibition and partner proteins, core-binding factor beta (CBFbeta) and Ets-1, modulate DNA binding by CBFalpha2 (AML1). Mol Cell Biol 2000;20:91-103
7. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013;Chapter 7:Unit7 20
8. Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers 2010;14:533-537
9. Kundu M, Compton S, Garrett-Beal L, Stacy T, Starost MF, Eckhaus M, Speck NA, Liu PP. Runx1 deficiency predisposes mice to T-lymphoblastic lymphoma. Blood 2005;106: 3621-3624
10. Ichikawa M, Asai T, Saito T, Seo S, Yamazaki I, Yamagata T, Mitani K, Chiba S, Ogawa S, Kurokawa M, et al. AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. Nat Med 2004;10:299-304
11. Grever MR. How I treat hairy cell leukemia. Blood 2010;115:21-28
12. Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med 2011;364: 2305-2315
13. Niimi H, Harada H, Harada Y, Ding Y, Imagawa J, Inaba T, Kyo T, Kimura A. Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations. Leukemia 2006;20:635-644