Short communication B lymphoblastic leukemia with ETV6 amplification

We presente a case of acute lymphoblastic leukemia caused by ETV6 amplification. Although the cytogenetic result revealed complex karyotype, multicolor fluorescence in situ hybridization and high-resolution multicolor banding supported amplification of a gene on 12p13. Fluorescence in situ hybridization with ETV6 probe confirmed the amplification. ETV6 generally plays as tumor- suppressor gene in leukemia. Their expression is decreased or missed by deletion or mutation. Otherwise, ETV6 protein overexpression was verified in this case by immunohistochemistry. Any translocation or mutation involving ETV6 was not detected. This experience strongly supports the hypothesis that the amplification of ETV6 is a possible mechanism of leukeogenesis as

[1]  O. Haas,et al.  ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1 , 2010, Oncogene.

[2]  B. Klein,et al.  ETV6 mutations and loss in AML-M0 , 2008, Leukemia.

[3]  M. Minden,et al.  A tumor suppressor and oncogene: the WT1 story , 2007, Leukemia.

[4]  B. Löwenberg,et al.  Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia , 2005, Oncogene.

[5]  S. Bohlander.  ETV6: a versatile player in leukemogenesis. , 2005, Seminars in cancer biology.

[6]  S. Orkin,et al.  Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. , 2004, Genes & development.

[7]  N. Sorel,et al.  ETV6 (TEL) gene amplification in a myelodysplastic syndrome with excess of blasts , 2004, Leukemia.

[8]  K. Pritchard-Jones,et al.  Expression profile of wild‐type ETV6 in childhood acute leukaemia , 2003, British journal of haematology.

[9]  M. Roussel,et al.  The MN1-TEL Fusion Protein, Encoded by the Translocation (12;22)(p13;q11) in Myeloid Leukemia, Is a Transcription Factor with Transforming Activity , 2000, Molecular and Cellular Biology.

[10]  R. Bataille,et al.  Amplification of the 11q23 region in acute myeloid leukemia , 1999, Genes, chromosomes & cancer.

[11]  L. Savage,et al.  Characterization of the C-MYC amplicon in a case of acute myeloid leukemia with double minute chromosomes. , 1999, Cancer genetics and cytogenetics.

[12]  Y Fujiwara,et al.  The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow. , 1998, Genes & development.

[13]  D. Mahoney,et al.  Detection of double minute chromosomes in a child with acute lymphoblastic leukemia. , 1998, Cancer genetics and cytogenetics.