A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

被引：33

作者：

Kirito, Keita ^{[1
]}

Sakoe, Kumi ^{[1
]}

Shinoda, Daisuke ^{[1
]}

Takiyama, Yoshihisa ^{[2
]}

Kaushansky, Kenneth ^{[3
]}

Komatsu, Norio ^{[1
]}

机构：

[1] Univ Yamanashi, Dept Hematol, Yamanashi, Japan

[2] Jichi Med Univ, Dept Internal Med, Div Neurol, Shimotuke, Tochigi, Japan

[3] Univ Calif San Diego, Dept Med, Div Hematol Oncol, San Diego, CA 92103 USA

来源：

HAEMATOLOGICA | 2007年 / 93卷 / 01期

关键词：

RUNX1; acute myeloid leukemia; FPD/MM;

D O I：

10.3324/haematol.12050

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

引用

收藏

页码：155 / 156

页数：2

相关论文

共 12 条

[1] A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies [J].

Buijs, A ;

Poddighe, P ;

van Wijk, R ;

van Solinge, W ;

Borst, E ;

Verdonck, L ;

Hagenbeek, A ;

Pearson, P ;

Lokhorst, H .

BLOOD, 2001, 98 (09) :2856-2858

[2] Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation [J].

Christiansen, DH ;

Andersen, MK ;

Pedersen-Bjergaard, J .

BLOOD, 2004, 104 (05) :1474-1481

[3] High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia [J].

Harada, H ;

Harada, Y ;

Niimi, H ;

Kyo, T ;

Kimura, A ;

Inaba, T .

BLOOD, 2004, 103 (06) :2316-2324

[4] Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation [J].

Heller, PG ;

Glembotsky, AC ;

Gandhi, MJ ;

Cummings, CL ;

Pirola, CJ ;

Marta, RF ;

Kornblihtt, LI ;

Drachman, JG ;

Molinas, FC .

BLOOD, 2005, 105 (12) :4664-4670

[5] A novel inherited single-nucleotide mutation in 5'-UTR in the transcription factor RUNX1 in familial platelet disorder with propensity to develop mycloid malignancies. [J].

Kirito, Keita ;

Mitsumori, Toru ;

Nagashima, Takahiro ;

Kunitama, Masae ;

Nakajima, Kei ;

Yoshida, Kozue ;

Hu, Yongzhen ;

Yanagai, Mitsuhiro ;

Komatsu, Norio .

BLOOD, 2006, 108 (11) :543A-543A

[6] In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis [J].

Michaud, J ;

Wu, F ;

Osato, M ;

Cotties, GM ;

Yanagida, M ;

Asou, N ;

Shigesada, K ;

Ito, Y ;

Benson, KF ;

Raskind, WH ;

Rossier, C ;

Antonarakis, SE ;

Israels, S ;

McNicol, A ;

Weiss, H ;

Horwitz, M ;

Scott, HS .

BLOOD, 2002, 99 (04) :1364-1372

[7] Point mutations in the RUNX1/AML1 gene:: another actor in RUNX leukemia [J].

Osato, M .

ONCOGENE, 2004, 23 (24) :4284-4296

[8] Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2αB gene associated with myeloblastic leukemias [J].

Osato, M ;

Asou, N ;

Abdalla, E ;

Hoshino, K ;

Yamasaki, H ;

Okubo, T ;

Suzushima, H ;

Takatsuki, K ;

Kanno, T ;

Shigesada, K ;

Ito, Y .

BLOOD, 1999, 93 (06) :1817-1824

[9] Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia [J].

Song, WJ ;

Sullivan, MG ;

Legare, RD ;

Hutchings, S ;

Tan, XL ;

Kufrin, D ;

Ratajczak, J ;

Resende, IC ;

Haworth, C ;

Hock, R ;

Loh, M ;

Felix, C ;

Roy, DC ;

Busque, L ;

Kurnit, D ;

Willman, C ;

Gewirtz, AM ;

Speck, NA ;

Bushweller, JH ;

Li, FP ;

Gardiner, K ;

Poncz, M ;

Maris, JM ;

Gilliland, DG .

NATURE GENETICS, 1999, 23 (02) :166-175

[10] Core-binding factors in haematopoiesis and leukaemia [J].

Speck, NA ;

Gilliland, DG .

NATURE REVIEWS CANCER, 2002, 2 (07) :502-513