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

被引：46

作者：

Akagi, Tadayuki ^{[1
]}

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

Kato, Motohiro ^{[4
]}

Kawamata, Norihiko ^{[1
]}

Yamamoto, Go ^{[4
,5
]}

Sanada, Masashi ^{[4
,5
]}

Okamoto, Ryoko ^{[1
]}

Miller, Carl W. ^{[1
]}

Liang, Der-Cherng ^{[6
]}

Ogawa, Seishi ^{[4
]}

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, Dept Internal Med, Div Hematol Oncol, Taipei 10591, Taiwan

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

[4] Univ Tokyo, Dept Hematol & Oncol, Tokyo, Japan

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

[6] Mackay Mem Hosp, Div Pediat Hematol Oncol, Taipei, Taiwan

来源：

BLOOD | 2009年 / 113卷 / 08期

基金：

美国国家卫生研究院;

关键词：

ACUTE MYELOID-LEUKEMIA; PML-RAR-ALPHA; INTERNAL TANDEM DUPLICATION; ACQUIRED UNIPARENTAL DISOMY; RETINOIC ACID; NORMAL KARYOTYPE; CELL-LINE; T(15-17) TRANSLOCATION; SIGNAL-TRANSDUCTION; PML/RAR-ALPHA;

D O I：

10.1182/blood-2007-12-130260

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Acute promyelocytic leukemia (APL) is ahematopoietic malignant disease characterized by the chromosomal translocation t(15; 17), resulting in the formation of the PML-RARA gene. Here, 47 t(15; 17) APL samples were analyzed with high-density single-nucleotide polymorphism microarray (50-K and 250-K SNP-chips) using the new algorithm AsCNAR (allele-specific copy-number analysis using anonymous references). Copy-number-neutral loss of heterozygosity (CNN-LOH) was identified at chromosomes 10q(3 cases), 11p (3 cases), and 19q (1 case). Twenty-eight samples (60%) did not have an obvious alteration (normal-copy-number [NC] group). Nineteen samples (40%) showed either one or more genomic abnormalities: 8 samples (17%) had trisomy 8 either with or without an additional duplication, deletion, or CNN-LOH (+ 8 group); and 11 samples (23%) had genomic abnormalities without trisomy 8 (other abnormalities group). These chromosomal abnormalities were acquired somatic mutations. Interestingly, FLT3-ITD mutations (11/47 cases) occurred only in the group with no genomic alteration (NC group). Taken together, these results suggest that the pathway of development of APL differs in each group: FLT3-ITD, trisomy 8, and other genomic changes. Here, we showed for the first time hidden abnormalities and novel disease-related genomic changes in t(15; 17) APL. (Blood. 2009; 113: 1741-1748)

引用

页码：1741 / 1748

页数：8

共 44 条

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