Home > A. Molecular pathology > ETV6
ETV6
12p13.1
Thursday 3 June 2004
TEL (translocation ets leukemia)
ETV6 is frequently involved in other epithelial and nonepithelial tumors, and many fusion partners of ETV6 have been reported.
ETV6 (initially called TEL) gene has been reported to form fusions with multiple partners: PDGFRB, MN1, ABL, CBFA2 (AML1), MDS1/EVI1, STL, and JAK2.
Pathology
translocations
In many cases, 12p13 rearrangements target ETV6 (initially called TEL), a gene that has been reported to form fusions with multiple partners: PDGFRB, MN1, ABL, CBFA2 (AML1), MDS1/EVI1, STL, and JAK2.
| ARNT | 1q21 | MIM.126110 | t(1;12)(q21;p13) | acute myeloblastic leukemia M2 |
| ABL2 | 1q25 | MIM.164690 | t(1;12)(q25;p13) | acute myeloid leukemia M4 with eosinophilia |
| MDS1 | 3q26 | MIM.600049 | t(3;21)(q26;q22) | chronic myelogenous leukemia in blast crisis |
| FGFR3 | 4p16 | MIM.134934 | t(4;12)(p16;p13) | peripheral T-cell lymphoma |
| FGFR3 | 4p16 | MIM.134934 | t(4;12)(p16;p13) | acute myelogenous leukemia (AML) |
| CHIC2 | 4q11 | MIM.604332 | t(4;12)(q11-q12;p13) | atypical chronic myelogenous leukemia |
| PDGFRB | 5q33 | MIM.173410 | t(5;12)(q33;p13) | chronic myeloproliferative disorders |
| PDGFRB | 5q33 | MIM.173410 | t(5;12)(q33;p13) | chronic myeloproliferative disorders |
| FRK | 6q21 | MIM.606573 | t(6;12)(q21;p13) | acute myelogenous leukemia |
| STL | 6q23 | MIM.602532 | t(6;12)(q23;p13) | B-cell acute lymphoblastic leukemia (B-ALL) |
| HLXB9 | 7q36 | MIM.142994 | t(7;12)(q36;p13) | acute myeloid leukemia |
| JAK2 | 9p24 | MIM.147796 | t(9;12)(p24;p13) | pre-B acute lymphoid leukemia |
| JAK2 | 9p24 | MIM.147796 | t(9;12)(p24;p13) | atypical chronic myelogenous leukemia in transformation |
| PAX5 | 9p13 | MIM.167414 | t(9;12)(p13;p13) | pre-B acute lymphoblastic leukemia |
| SYK | 9q22 | MIM.600085 | t(4;12)(p16;p13) | peripheral T-cell lymphoma |
| ABL1 | 9q34 | MIM.189980 | t(9;12)(q34; p13) | acute myeloid leukemia with eosinophilia |
| CDX2 | 13q12 | MIM.600297 | t(12;13)(p13;q12) | acute myeloid leukemia |
| TTL | 13q14 | MIM.608291 | t(12;13)(p13;q14) | acute lymphoblastic leukemia |
| IGH | 14q32 | MIM.147100 | ||
| NTRK3 | 15q25 | MIM.191316 | t(12;15)(p13;q25) | congenital fibrosarcoma |
| NTRK3 | 15q25 | MIM.191316 | t(12;15)(p13;q25) | cellular mesoblastic nephroma |
| NTRK3 | 15q25 | MIM.191316 | t(12;15)(p13;q25) | chronic myeloid leukemia |
| NTRK3 | 15q25 | MIM.191316 | t(12;15)(p13;q25) | secretory breast carcinoma |
| PER1 | 17p12 | MIM.602260 | t(12;17)(p13;p12-p13) | acute myeloid leukemia |
| RUNX1 | 21q22 | 151385 | t(12;21) (p13;q22) | acute lymphoblastic leukemia |
| MN1 | 22q11 | MIM.156100 | t(12;22)(p13;q11) | myelodysplastic syndrome |
| MN1 | 22q11 | MIM.156100 | t(12;22)(p13;q11) | acute myeloid leukemia |
By tumors
secretory mammary carcinoma (1.5%) (15887243) mammary analogue secretory carcinoma (MASC) (25651470)
See also
ETV6-associated leukemias
References
Mammary Analogue Secretory Carcinoma of Salivary Glands: A Clinicopathologic and Molecular Study Including 2 Cases Harboring ETV6-X Fusion. Ito Y, Ishibashi K, Masaki A, Fujii K, Fujiyoshi Y, Hattori H, Kawakita D, Matsumoto M, Miyabe S, Shimozato K, Nagao T, Inagaki H. Am J Surg Pathol. 2015 Feb 3. PMID: 25651470
Wlodarska I, Mecucci C, Baens M, Marynen P, van den Berghe H. ETV6 gene rearrangements in hematopoietic malignant disorders. Leuk Lymphoma. 1996 Oct;23(3-4):287-95. PMID: 9031109
