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Blood, 15 February 2001, Vol. 97, No. 4, pp. 1050-1055
NEOPLASIA
Constitutive kinase activation of the TEL-Syk fusion
gene in myelodysplastic syndrome with t(9;12)(q22;p12)
Yoshie Kuno,
Akihiro Abe,
Nobuhiko Emi,
Minako Iida,
Toshiya Yokozawa,
Masayuki Towatari,
Mitsune Tanimoto, and
Hidehiko Saito
From the First Department of Internal Medicine, Nagoya
University School of Medicine, Nagoya, Japan.
The TEL gene on 12p12-13 is a target for a number of
translocations associated with various hematological malignancies.
The fusion of the TEL gene to the Syk
gene in a patient with myelodysplastic syndrome (MDS) with
t(9;12)(q22;p12) is reported. Southern blot analysis of patient bone
marrow cells with TEL and Syk gene probes detected rearranged fragments. Anchored polymerase chain reaction identified the Syk gene, a nonreceptor tyrosine kinase, on
9q22 fused downstream of TEL exon 5. The TEL
gene was fused in-frame to Syk and produced a fusion
protein that was constitutively phosphorylated in tyrosine with
dimerization that was mediated by the helix-loop-helix domain
of TEL. A TEL-Syk fusion product transformed
the murine hematopoietic cell line BaF3 to interleukin-3 growth factor
independence. TEL-Syk is a novel transforming protein and leads to the
transformation of hematopoietic cells. These data implicate that the
rearranged Syk gene is involved in the pathogenesis of
hematopoietic malignancies.

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