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.
Pathology
translocations
| 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 |
rare rearrangements in invasive mammamy carcinoma (1.5%) (15887243)
See also
ETV6-associated leukemias
References
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