Fusion genes

PAPSS1-BRAF
4 January 2014

PAPSS1-BRAF and TRIM24-BRAF fusion gene in melanoma BRAF fusions define a new molecular subset of melanoma, potentially comprising 4% to 8% of "pan-negative" cases. Their presence may explain an unexpected clinical response to MEK inhibitor therapy or assist in selecting patients for MEK-directed therapy.
References
BRAF Fusions Define a Distinct Molecular Subset of Melanomas with Potential Sensitivity to MEK Inhibition. Hutchinson KE, Lipson D, Stephens PJ, Otto G, Lehmann BD, Lyle PL, (...)
CRTC3-MAML2
14 October 2013

MAML2-CRTC3
Pathology
mucoepidermoid carcinoma The recurrent translocations t(11;19) and t(11;15) resulting in CRTC1-MAML2 or CRTC3-MAML2 fusion oncogenes, respectively, are identified in a large proportion of mucoepidermoid carcinomas (MECs) of the salivary gland and have impact on prognosis.
Warthin tumor Its putative occurrence in Warthin tumor (WT) of the parotid gland has been reported in few previous cases. It was speculated that extensive squamous metaplasia could explain the (...)
EWSR1-NFATC1
15 March 2013

NFATC1-EWSR1
Pathology
EWSR1-NFATC1 fusion gene in a hemangioma of the bone.with t(18;22)(q23;q12)
The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions.
EWSR1-NFATC1 fusion gene has been found in a hemangioma of the bone.
Chromosome banding analysis showed a t(18;22)(q23;q12) translocation as the sole change.
Fluorescence in situ hybridization mapping suggested the involvement of each of the 2 (...)
SLC45A3-ERG
11 January 2013, by admin

The majority of prostate cancer harbors recurrent gene fusions involving ETS transcription factors, most commonly ERG. The second most common 5’ fusion partner after TMPRSS2 is SLC45A3.
SLC45A3 show a weaker expression in cancer as compared to benign tissue, which was pronounced in cases with SLC45A3-ERG fusion.
SLC45A3 down regulation is significantly associated with shorter PSA-free survival times.
In contrast, TMPRSS2 is neither differentially expressed nor do it show a correlation (...)
CAMTA1-WWTR1
9 August 2012

WWTR1-CAMTA1
DEK-NUP214
2 January 2012

CAN-DEK
Pathology
DEK-NUP214 (CAN-DEK) fusion gene The t(6;9)(p23;q34) associated DEK/CAN (CAN-DEK) fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. (#20827285#)
References
The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. Oancea C, Rüster B, Henschler R, Puccetti E, Ruthardt M. Leukemia. 2010 Nov;24(11):1910-9. (...)
SYT-SSX1
1 January 2012

References
A novel variant of SYT-SSX1 fusion gene in a case of spindle cell synovial sarcoma. Krsková L, Sumerauer D, Stejskalová E, Kodet R. Diagn Mol Pathol. 2007 Sep;16(3):179-83. PMID: #17721327#
MYH9-USP6
19 December 2011

MYH9/USP6, USP6-MYH9, USP6/MYH9
BCOR-CCNB3
15 April 2009

BCOR/CCNB3; CCNB3-BCOR; CCNB3/BCOR
Pathology
A new subtype of bone sarcoma is defined by BCOR-CCNB3 gene fusion. (#22387997#) CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. The intrachromosomal X-chromosome fusion represents a new subtype of bone sarcoma caused by a newly identified gene fusion mechanism.
Open references BCOR-CCNB3 fusions are (...)
ABL1-NUP21
29 August 2008

NUP214/ABL1; NUP214/ABL1 fusion gene
CAN/Nup214 is an FXFG repeat-containing protein involved in myeloid leukemia in humans. It a component of the vertebrate nuclear pore complex (NPC), a 125-megadalton multiprotein assembly that mediates nucleocytoplasmic transport.
Pathology
NUP214/ABL1 fusion gene in T-cell acute lymphoblastic leukemia (##15361874#)
References
Graux, C.; Cools, J.; Melotte, C.; Quentmeier, H.; Ferrando, A.; Levine, R.; Vermeesch, J. R.; Stul, M.; Dutta, B.; (...)

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A. Molecular pathology