Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells

被引：15

作者：

Akagi, Tadayuki ^{[1
]}

Shih, Lee-Yung ^{[2
,3
]}

Ogawa, Seishi ^{[4
,5
]}

Gerss, Joachim ^{[6
]}

Moore, Stephen R. ^{[7
,8
]}

Schreck, Rhona ^{[7
,8
]}

Kawamata, Norihiko ^{[1
]}

Liang, Der-Cherng ^{[9
]}

Sanada, Masashi ^{[4
]}

Nannya, Yasuhito ^{[4
]}

Deneberg, Stefan ^{[1
]}

Zachariadis, Vasilios ^{[11
]}

Nordgren, Ann ^{[11
]}

Song, Jee Hoon ^{[1
]}

Dugas, Martin ^{[6
]}

Lehmann, Soren ^{[1
,10
]}

Koeffler, H. Phillip ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Cedars Sinai Med Ctr, Sch Med, Div Hematol & Oncol, Los Angeles, CA 90048 USA

[2] Chang Gung Mem Hosp, Div Hematol Oncol, Taipei 10591, Taiwan

[3] Chang Gung Univ, Sch Med, Tao Yuan, Taiwan

[4] Univ Tokyo, Dept Haematol & Oncol, Grad Sch Med, Tokyo, Japan

[5] Univ Tokyo, 21st Century COE Program, Grad Sch Med, Tokyo, Japan

[6] Univ Munster, Dept Med Informat & Biomath, Munster, Germany

[7] Cedars Sinai Med Ctr, Pathol Lab Med, Los Angeles, CA 90048 USA

[8] Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA

[9] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

[10] Karolinska Univ Hosp, Dept Hematol, Stockholm, Sweden

[11] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

来源：

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2009年 / 94卷 / 09期

关键词：

t(8; 21); AML1-ETO; CNN-LOH; SNP-chip; KIT; PIM1; ACUTE MYELOGENOUS LEUKEMIA; UNIPARENTAL DISOMY; AML1-ETO; MUTATIONS; EXPRESSION; TRANSLOCATIONS; ABNORMALITIES; HYPERMUTATION; LYMPHOMAS; MODEL;

D O I：

10.3324/haematol.2009.005744

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Translocation of chromosomes 8 and 21, t(8;21), resulting in the AML1-ETO fusion gene, is associated with acute myeloid leukemia. We searched for additional genomic abnormalities in this acute myeloid leukemia subtype by performing single nucleotide polymorphism genomic arrays (SNP-chip) analysis on 48 newly diagnosed cases. Thirty-two patients (67%) had a normal genome by SNP-chip analysis (Group A), and 16 patients (33%) had one or more genomic abnormalities including copy number changes or copy number neutral loss of heterozygosity (Group B). Two samples had copy number neutral loss of heterozygosity on chromosome 6p including the PIM1 gene; and one of these cases had E135K mutation of Pim1 Interestingly, 38% of Group B and only 13% of Group A samples had a KIT-D816 mutation, suggesting that genomic alterations are often associated with a KIT-D816 mutation. Importantly, prognostic analysis revealed that overall survival and event-free survival of individuals in Group B were significantly worse than those in Group A.

引用

页码：1301 / 1306

页数：6

共 24 条

[1] Hidden abnormalities and novel classification of t(15;17) acute promyelocytic leukemia (APL) based on genomic alterations [J].

Akagi, Tadayuki ;

Shih, Lee-Yung ;

Kato, Motohiro ;

Kawamata, Norihiko ;

Yamamoto, Go ;

Sanada, Masashi ;

Okamoto, Ryoko ;

Miller, Carl W. ;

Liang, Der-Cherng ;

Ogawa, Seishi ;

Koeffler, H. Phillip .

BLOOD, 2009, 113 (08) :1741-1748

[2] Frequent genomic abnormalities in acute myeloid leukemia/myelodysplastic syndrome with normal karyotype [J].

Akagi, Tadayuki ;

Ogawa, Seishi ;

Dugas, Martin ;

Kawamata, Norihiko ;

Yamamoto, Go ;

Nannya, Yasuhito ;

Sanada, Masashi ;

Miller, Carl W. ;

Yung, Amanda ;

Schnittger, Susanne ;

Haferlach, Torsten ;

Haferlach, Claudia ;

Koeffler, H. Phillip .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (02) :213-223

[3] Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement [J].

Beghini, A ;

Ripamonti, CB ;

Castorina, P ;

Pezzetti, L ;

Doneda, L ;

Cairoli, R ;

Morra, E ;

Larizza, L .

CANCER GENETICS AND CYTOGENETICS, 2000, 119 (01) :26-31

[4] Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias [J].

Care, RS ;

Valk, PJM ;

Goodeve, AC ;

Abu-Duhier, FM ;

Geertsma-Kleinekoort, WMC ;

Wilson, GA ;

Gari, MA ;

Peake, IR ;

Löwenberg, B ;

Reilly, JT .

BRITISH JOURNAL OF HAEMATOLOGY, 2003, 121 (05) :775-777

[5]

DOWNING JR, 1993, BLOOD, V81, P2860

[6] Stem cell expression of the AML1/ETO fusion protein induces a myeloproliferative disorder in mice [J].

Fenske, TS ;

Pengue, G ;

Mathews, V ;

Hanson, PT ;

Hamm, SE ;

Riaz, N ;

Graubert, TA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (42) :15184-15189

[7] Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML [J].

Gondek, Lukasz P. ;

Tiu, Ramon ;

O'Keefe, Christine L. ;

Sekeres, Mikkael A. ;

Theil, Karl S. ;

Maciejewski, Jaroslaw R. .

BLOOD, 2008, 111 (03) :1534-1542

[8] Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t(8;21) acute myeloid leukemia [J].

Higuchi, M ;

O'Brien, D ;

Kumaravelu, P ;

Lenny, N ;

Yeoh, EJ ;

Downing, JR .

CANCER CELL, 2002, 1 (01) :63-74

[9] Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray [J].

Kawamata, Norihiko ;

Ogawa, Seishi ;

Zimmermann, Martin ;

Kato, Motohiro ;

Sanada, Masashi ;

Hemminki, Kari ;

Yamatomo, Go ;

Nannya, Yasuhito ;

Koehler, Rolf ;

Flohr, Thomas ;

Miller, Carl W. ;

Harbott, Jochen ;

Ludwig, Wolf-Dieter ;

Stanulla, Martin ;

Schrappe, Martin ;

Bartram, Claus R. ;

Koeffler, H. Phillip .

BLOOD, 2008, 111 (02) :776-784

[10] Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1-ETO [J].

Kuchenbauer, F. ;

Schnittger, S. ;

Look, T. ;

Gilliland, G. ;

Tenen, D. ;

Haferlach, T. ;

Hiddemann, W. ;

Buske, C. ;

Schoch, C. .

BRITISH JOURNAL OF HAEMATOLOGY, 2006, 134 (06) :616-619

← 1 2 3 →