Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML

被引：31

作者：

Barresi, Vincenza ^{[1
,2
]}

Palumbo, Giuseppe Alberto ^{[3
]}

Musso, Nicolo ^{[2
]}

Consoli, Carla ^{[3
]}

Capizzi, Carmela ^{[2
]}

Meli, Carmela Rita ^{[3
]}

Romano, Alessandra ^{[2
,3
]}

Di Raimondo, Francesco ^{[3
]}

Condorelli, Daniele Filippo ^{[1
,2
]}

机构：

[1] Univ Catania, Dept Chem Sci, Sect Biochem & Mol Biol, I-95125 Catania, Italy

[2] Univ Catania, Scuola Super Catania, Lab Sistemi Complessi, I-95125 Catania, Italy

[3] Univ Catania, Osped Ferrarotto, Div Hematol, I-95125 Catania, Italy

来源：

LEUKEMIA RESEARCH | 2010年 / 34卷 / 11期

关键词：

Myelodysplastic syndrome; Acute myeloid leukemia; SNP array; Copy-neutral loss of heterozygosity; CBL gene; ACQUIRED UNIPARENTAL DISOMY; MALIGNANCIES; NEOPLASMS; GENOME;

D O I：

10.1016/j.leukres.2010.07.004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

By conventional metaphase and SNP array cytogenetics we serially studied a patient affected by high-risk myelodysplastic syndrome (MDS), documenting the conversion from partial trisomy 8q to trisomy 8 and partial tetrasomy 8q during progression to acute myeloid leukemia (AML). Moreover, the serial application of high resolution genomic array analysis at different disease stages allowed the description of cryptic abnormalities and the demonstration of their enrichment in the AML phase. In particular the detection and quantification of a copy-neutral loss of heterozygosity region located in chromosome 11q guided the search for point mutations in the CBL gene, thus allowing the escription of the novel missense mutation K382E and the demonstration of its selection during progression to secondary AML. (C) 2010 Elsevier Ltd. All rights reserved.

引用

页码：1539 / 1542

页数：4

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