| Written | 2008-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| Atlas_Id | 1347 |
| 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. |
| Cytogenetics |
| Additional anomalies | +8 and other anomalies |
| Genes involved and Proteins |
| Gene Name | ETV6 (ets variant 6) |
| Location | 12p13.2 |
| Protein | ETS-related transcription regulator |
| Gene Name | NTRK3 (neurotrophic tyrosine kinase, receptor, type 3) |
| Location | 15q25.3 |
| Protein | Tyrosine kinase cell surface receptor |
| Result of the chromosomal anomaly |
| Description | 5' ETV6-3' NTRK3 |
| 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). |
| 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. |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(12;15)(p13;q25) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):130-131. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1215p13q25ID1347.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | ETV6 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;15)(p13;q25) ETV6/NTRK3 | |
| External links |
| Mitelman database | t(12;15)(p13;q25) [Case List] t(12;15)(p13;q25) [Association List] Mitelman database (CGAP - NCBI) |
| arrayMap | Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | ETV6/NTRK3 [MCList] ETV6 (12p13.2) NTRK3 (15q25.3) |
| TCGA_Fusion | ETV6/NTRK3 [BRCA] ETV6 (12p13.2) NTRK3 (15q25.3) |
| TICdb | ETV6/NTRK3 ETV6 (12p13.2) NTRK3 (15q25.3) |
| Disease database | t(12;15)(p13;q25) ETV6/NTRK3 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:20:11 CEST 2017 |
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