Download Leukaemia Section t(12;15)(p13;q25) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Short Communication
t(12;15)(p13;q25)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 2008
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t1215p13q25ID1347.html
DOI: 10.4267/2042/44405
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fusion protein
Clinics and pathology
Description
Encodes a fusion protein with the sterile alpha motif
(SAM) oligomerization domain of ETV6 in N-term to
the C- term protein tyrosine kinase (PTK) domain of
NTRK3.
Oncogenesis
Functions as a constitutively active tyrosine kinase.
ETV6-NTRK3 is capable of homodimerization, or
heterodimerization with ETV6, and subsequent PTK
activation, leading to constitutive elevation of cyclin
D1, and increased cell cycle progression. ETV6NTRK3 also leads to constitutive activation of two of
the major effector pathways of NTRK3: the RasMAPK mitogenic pathway and the phosphatidyl
inositol-3-kinase (PI3K) pathway leading to activation
of the AKT cell survival factor (Lannon and Sorensen,
2005).
Disease
Acute myeloid leukaemia (AML), FAB M2 subtype.
Epidemiology
Only one case to date, a 59-year-old female patient.
Prognosis
The patient died 5 months after the onset of the
leukaemia.
Cytogenetics
Additional anomalies
+8 and other anomalies.
Genes involved and proteins
ETV6
To be noted
Location
12p13
Protein
ETS-related transcription regulator.
Note
The same translocation t(12;15)(p13;q25) with the
same genes involved (ETV6-NTRK3) can also be
found in: Secretory Ductal Breast Carcinoma , in
Congenital Mesoblastic Nephroma, and in Congenital
Fibrosarcoma.
NTRK3
Location
15q25
Protein
Tyrosine kinase cell surface receptor.
References
Setoyama M, Tojo A, Nagamura F, Asano S, Ishimae M,
Eguchi M, Kamada N. A unique translocation of the TEL gene
in a case of acute myelogenous leukemia with inv(12)(p13q15)
Blood. 1998 Aug 15;92(4):1454-5
Result of the chromosomal
anomaly
Eguchi M, Eguchi-Ishimae M, Tojo A, Morishita K, Suzuki K,
Sato Y, Kudoh S, Tanaka K, Setoyama M, Nagamura F, Asano
S, Kamada N. Fusion of ETV6 to neurotrophin-3 receptor
TRKC in acute myeloid leukemia with t(12;15)(p13;q25). Blood.
1999 Feb 15;93(4):1355-63
Hybrid gene
Description
5' ETV6-3' NTRK3
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2)
130
t(12;15)(p13;q25)
Huret JL
Lannon CL, Sorensen PH. ETV6-NTRK3: a chimeric protein
tyrosine kinase with transformation activity in multiple cell
lineages. Semin Cancer Biol. 2005 Jun;15(3):215-23
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2)
This article should be referenced as such:
Huret JL. t(12;15)(p13;q25). Atlas Genet Cytogenet Oncol
Haematol. 2009; 13(2):130-131.
131