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The second ETV6 allele is not necessarily deleted in acute leukemias with a ETV6/ABL fusion
Author(s) -
Hannemann Jürgen R.,
Healy Lyn E.,
Ridge Susan A.,
Wiedemann Leanne M.
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199803)21:3<256::aid-gcc11>3.0.co;2-n
Subject(s) - etv6 , fusion gene , chromosomal translocation , abl , biology , locus (genetics) , gene , cancer research , allele , microbiology and biotechnology , genetics , receptor , tyrosine kinase
The ETV6 ( TEL ) locus at chromosome band 12p13 is a major site of translocations in acute leukemia, particularly in childhood acute lymphoblastic leukemia (ALL). In cases with translocations involving ETV6 , the normal ETV6 allele is often deleted. In addition, loss of heterozygosity of ETV6 is frequently observed in childhood ALL. Thus, it has been suggested that ETV6 may have an anti‐oncogenic role to play, in addition to its oncogenic role. We have described an unusual case of ALL in which ETV6 is found fused to the ABL gene; ABL is normally activated by fusion to the BCR gene in the 9:22 translocation. We expanded the primary cells from this ETV6/ABL rearranged case of ALL in SCID animals and analyzed them for expression of both ETV6/ABL and the normal ETV6 mRNA. We found that both the rearranged and normal ETV6 mRNAs are expressed in the expanded cell population. Furthermore, sequence analysis of the ETV6 PCR product revealed no point mutations which would influence the amino acid sequence. Thus, deletion of the second ETV6 allele is not necessary for the transformation to leukemia by ETV6/ABL . Genes Chromosomes Cancer 21:256–259, 1998. © 1998 Wiley‐Liss, Inc.