Signaling by membrane-tethered fusions of PDGFRA or PDGFRB

Stable Identifier
Homo sapiens
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In addition to activating missensse and in-frame deletion mutations, PDGFRA and PDGFRB are also subject to low frequency gene fusion events arising from chromosomal rearrangements. To date there are about 35 identified PDGFRA or B fusion partners, with PDGFRB being the more common partner (reviewed in Appiah-Kubi et al, 2017). Although some of the PDGF fusions proteins are cytosolic by virtue of removal of the PDGFR transmembrane region (TMD), a number of fusions retain the TMD and are linked to the plasma membrane (Hidalgo-Curtis et al, 2010; Ozawa et al, 2010; Curtis et al, 2007; Medves et al, 2010; reviewed in Appiah-Kubi et al, 2017). The most common transmembrane fusion partner of PDGFRA and PDGFRB is ETV6 (also known as TEL1), a transcriptional repressor with known ability to homodimerize (Curtis et al, 2007; Golub et al, 1994; Andrae et al, 2008; reviewed in de Braekeleer et al, 2012; Wang et al, 2016; Appiah-Kubi et al, 2017).

Literature References
PubMed ID Title Journal Year
27170215 The platelet-derived growth factors (PDGFs) and their receptors (PDGFRs) are major players in oncogenesis, drug resistance, and attractive oncologic targets in cancer

Yao, X, Chen, Y, Wu, M, Qian, H, Wang, Y, Wu, Y, Appiah-Kubi, K

Growth Factors 2016
22578774 ETV6 fusion genes in hematological malignancies: a review

De Braekeleer, E, De Braekeleer, M, Douet-Guilbert, N, Basinko, A, Le Bris, MJ, Morel, F

Leuk. Res. 2012
18483217 Role of platelet-derived growth factors in physiology and medicine

Betsholtz, C, Andrae, J, Gallini, R

Genes Dev 2008
17555450 Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia

Grand, FH, Clark, A, Curtis, CE, Reiter, A, Minervini, MM, Cross, NC, Perla, G, Musto, P, Murphy, J, Stewart, J

Br. J. Haematol. 2007
8168137 Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation

Golub, TR, Gilliland, DG, Barker, GF, Lovett, M

Cell 1994
28010895 Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies

Yao, X, Chen, Y, Wu, M, Qian, H, Wang, Y, Wu, Y, Appiah-Kubi, K, Lan, T

Crit. Rev. Oncol. Hematol. 2017
20085582 Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms

Grand, FH, Hidalgo-Curtis, C, Apperley, JF, Stark, A, Jeng, M, Gotlib, J, Cross, NC, Stark, A, Chase, A

Br. J. Haematol. 2010
20889717 PDGFRA gene rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas

Ladanyi, M, Fomchenko, EI, Fujii, K, Brennan, CW, Tandon, A, Oka, H, Yasui, Y, Nakada, M, Wang, L, Sasayama, T, Holland, EC, Levine, RL, Pedraza, A, Utsuki, S, Huse, JT, Ozawa, T, Squatrito, M

Genes Dev. 2010
20164854 KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia

Duhoux, FP, Toffalini, F, Libouton, JM, Demoulin, JB, Poirel, HA, Medves, S, Ameye, G, Ferrant, A

Leukemia 2010
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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