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ETV6

12p13.1

Thursday 3 June 2004

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

Portfolio

  • ETV6 partners
  • ETV6 fusion genes (TEL fusion genes)