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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

Portfolio

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