t(12;15)(p13;q25) ETV6/NTRK3

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Written2008-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1347

2. Clinics and Pathology

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.

3. Cytogenetics

Additional anomalies +8 and other anomalies

4. Genes involved and Proteins

Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein ETS-related transcription regulator
Gene NameNTRK3 (neurotrophic tyrosine kinase, receptor, type 3)
Location 15q25.3
Protein Tyrosine kinase cell surface receptor

5. Result of the chromosomal anomaly

Hybrid gene
Description 5' ETV6-3' NTRK3
Fusion Protein
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. ETV6-NTRK3 also leads to constitutive activation of two of the major effector pathways of NTRK3: the Ras-MAPK mitogenic pathway and the phosphatidyl inositol-3-kinase (PI3K) pathway leading to activation of the AKT cell survival factor (Lannon and Sorensen, 2005).

6. To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.
-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.

7. Bibliography

Fusion of ETV6 to neurotrophin-3 receptor TRKC in acute myeloid leukemia with t(12;15)(p13;q25).
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
Blood. 1999 ; 93 (4) : 1355-1363.
PMID 9949179
ETV6-NTRK3: a chimeric protein tyrosine kinase with transformation activity in multiple cell lineages.
Lannon CL, Sorensen PH
Seminars in cancer biology. 2005 ; 15 (3) : 215-223.
PMID 15826836
A unique translocation of the TEL gene in a case of acute myelogenous leukemia with inv(12)(p13q15)
Setoyama M, Tojo A, Nagamura F, Asano S, Ishimae M, Eguchi M, Kamada N
Blood. 1998 ; 92 (4) : 1454-1455.
PMID 9694736

8. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):130-131.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t1215p13q25ID1347.html

9. Translocations implicated (Data extracted from papers in the Atlas)

 t(12;15)(p13;q25) ETV6/NTRK3

10. External links

ETV6 (12p13.2) NTRK3 (15q25.3)

ETV6 (12p13.2) NTRK3 (15q25.3)

ETV6 (12p13.2) NTRK3 (15q25.3)

Mitelman databaset(12;15)(p13;q25) [Case List]    t(12;15)(p13;q25) [Transloc-MCList] ETV6/NTRK3 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseETV6/NTRK3 [MCList]  ETV6 (12p13.2) NTRK3 (15q25.3)
TCGA_FusionETV6/NTRK3 [BRCA]  ETV6 (12p13.2) NTRK3 (15q25.3)
TICdbETV6/NTRK3  ETV6 (12p13.2) NTRK3 (15q25.3)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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indexed on : Wed Nov 28 16:19:28 CET 2018

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