Acute panmyelosis with myelofibrosis with EVI1 amplification

详细信息	查看全文 | 推荐本文 |

• 作者：Beata Grygalewicz^a ; ^{bgrygal@coi.waw.pl} ; Renata Woroniecka^a ; Anna Pastwi艅ska^a ; Jolanta Rygier^a ; Paulina Krawczyk^a ; Katarzyna Borg^b ; Hanna Makuch-艁asica^b ; El偶bieta Patkowska^c ; Barbara Pie艅kowska-Grela^a
• 关键词：EVI1 ; acute myeloid leukemia ; amplification ; panmyelosis ; myelofibrosis
• 刊名：Cancer Genetics
• 出版年：2012
• 期刊代码：pca82_22107762
• 类别：med
• 出版时间：May, 2012
• 卷：205
• 期：5
• 页码：255-260
• 文件大小：290 K

摘要

EVI1 is located on chromosome 3q26 and is up-regulated mostly through an inv(3)(q21q26) or t(3;3)(q21;q26). Chromosomal aberrations involving 3q26 comprise 1-2%of all acute myeloid leukemia (AML). These changes result in overexpression of the EVI1 oncogene. EVI1 transcriptional activation has been reported in up to 10%of AML patients, even in the absence of 3q26 changes, and is an independent indicator of adverse prognosis. Rearrangements of the EVI1 locus are often associated with monosomy 7. We present a case of acute panmyelosis with myelofibrosis with a unique EVI1 amplification within a derivative 8 chromosome, characterized by karyotyping and fluorescence in situ hybridization, conventional high resolution comparative genomic hybridization, as well as by gene expression studies. We conclude that EVI1 overexpression as a consequence of EVI1 gene amplification causes similar biological effects to the changes caused by the typical 3q26 aberrations such as an inv(3)(q21q26) or t(3;3)(q21;q26) with EVI1 gene rearrangements.