Home > A. Molecular pathology > fusion proteins

fusion proteins

Saturday 19 July 2003

Mechanisms

- balanced translocations

- chromosomal insertions

  • EWSR1/FLI1 by 22q12 insertion in Chr.11 in ES/PNET
  • EWSR1/ERG by 21q21-q22 insertion in 22q12 (15899394) or 22q12 insertion in 21q21-q22 in ES/PNET
  • RUNX1/CBFA2T1 (AML1/ETO) in acute myeloid leukemia (AML-M2)
  • PML/RARA in acute myeloid leukemia (AML-M3)
  • CBFB/MYH1 in acute myeloid leukemia (AML-M4)

Some examples of oncogentic fusion genes

Fusion proteins in sarcomas

Ewing sarcoma (ES/PNET) EWS/FLI1
congenital fibrosarcoma ETV6/NTRK3
inflammatory myofibroblastic tumor ALK/TPM3 ALK/TPM4 ALK/CLTC

Fusion proteins in renal tumors

cellular mesoblastic nephroma ETV6/NTRK3

Fusion proteins in carcinomas

juvenile renal cell carcinoma TFE3 TFEB
poorly differentiated carcinoma BRD4/NUT
thyroid carcinomas PAX8/PPARG1
papillary thyroid carcinoma RET/PTC1 RET/PTC2 RET/PTC3 RET/PTC8 RET/PCM1 RET/RFG8

Common fusion protein in different tumors

- ETV6/NTRK fusion gene in

  • congenital fibrosarcoma|leukemia
  • cellular mesoblastic nephroma

- ALK/TPM3 fusion gene in

  • anaplastic large-cell lymphoma
  • inflammatory myofibroblastic tumor

- ALK/CLTC fusion gene in

  • anaplastic large-cell lymphoma
  • inflammatory myofibroblastic tumor

- EWSR1/CREB1 fusion gene in

- ETV6/NTRK3 fusion gene in

  • congenital fibrosarcoma
  • cellular mesoblastic nephroma

See also

- fusion genes

References

- Fröhling S, Döhner H. Chromosomal abnormalities in cancer. N Engl J Med. 2008 Aug 14;359(7):722-34. PMID: 18703475

- Damm-Welk C, Fuchs U, Wossmann W, Borkhardt A. Targeting oncogenic fusion genes in leukemias and lymphomas by RNA interference. Semin Cancer Biol. 2003 Aug;13(4):283-92. PMID: 14563123

- Rabbitts TH, Stocks MR. Chromosomal translocation products engender new intracellular therapeutic technologies. Nat Med. 2003 Apr;9(4):383-6. PMID: 12669051

- Mitelman F, Johansson B, Mertens F. Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer. Nat Genet. 2004 Apr;36(4):331-4. PMID: 15054488

- Bohlander SK. Fusion genes in leukemia: an emerging network. Cytogenet Cell Genet. 2000;91(1-4):52-6. PMID: 11173830

Portfolio

  • Fusion genes and fusion transcripts
  • Consequences of tumoral chromosomal rearrangements