Fusion genes

• SERPINE1-FOSB
  31 October 2016

  WKP
  Pathology
  A SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. (#24374978#)
  Open references
  Diagnostic utility of FOSB immunohistochemistry in pseudomyogenic hemangioendothelioma and its histological mimics.
  Sugita S, Hirano H, Kikuchi N, Kubo T, Asanuma H, Aoyama T, Emori M, Hasegawa T. Diagn Pathol. 2016 Aug 11;11(1):75. doi:10.1186/s13000-016-0530-2.
  PMID: #27515856# (...)

• YWHAE-NUTM2
  28 October 2016

  YWHAE-NUTM2B/E
  Pathology
  YWHAE-NUTM2B/E positive fusion gene in pediatric clear cell sarcoma of the kidney (CCSK)
  References
  The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney. Gooskens SL, Kenny C, Lazaro A, O’Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L’Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O’Sullivan MJ. Genes (...)

• YWHAE-FAM22
  28 October 2016

  Pathology
  YWHAE-FAM22 fusion gene in endometrial stromal sarcoma (ESS) joining YWHAE and FAM22
  References
  YWHAE-FAM22 endometrial stromal sarcoma: diagnosis by reverse transcription-polymerase chain reaction in formalin-fixed, paraffin-embedded tumor.
  Isphording A, Ali RH, Irving J, Goytain A, Nelnyk N, Hoang LN, Gilks CB, Huntsman DG, Nielsen TO, Nucci MR, Lee CH.
  Hum Pathol. 2013 May;44(5):837-43. doi:10.1016/j.humpath.2012.08.007.
  PMID: (...)

• DNAJB1-PRKACA
  6 July 2016

  See also
  DNAJB1
  PRKACA
  Open references
  Hepatocellular Carcinoma, Fibrolamellar Variant: Diagnostic Pathologic Criteria and Molecular Pathology Update. A Primer. 2016. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4808818/
  Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma. 2015. (#24578576#) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286414/

• gene fusions in carcinomas
  1 July 2016

  Open references
  Landscape of gene fusions in epithelial cancers: seq and ye shall find.
  Kumar-Sinha C, Kalyana-Sundaram S, Chinnaiyan AM.
  Genome Med. 2015 Dec 18;7:129. doi:10.1186/s13073-015-0252-1 .
  PMID: #26684754# Free

• FGFR3-TACC3
  17 May 2016

  Open References
  The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma. Parker BC, Annala MJ, Cogdell DE, Granberg KJ, Sun Y, Ji P, Li X, Gumin J, Zheng H, Hu L, Yli-Harja O, Haapasalo H, Visakorpi T, Liu X, Liu CG, Sawaya R, Fuller GN, Chen K, Lang FF, Nykter M, Zhang W. J Clin Invest. 2013 Feb;123(2):855-65. doi:10.1172/JCI67144 . PMID: #23298836# (Free)
  Transforming fusions of FGFR and TACC genes in human glioblastoma. Singh D, Chan JM, Zoppoli P, Niola (...)

• NAB2-STAT6
  24 June 2014

  NAB2/STAT6
  Pathology
  NAB2-STAT6 gene fusion Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor (#26337721#, #26425382#, #26686340#) detection by integrative sequencing. (#23313952#, #23313954#, #26337721#) NAB2-STAT6 Gene Fusion in meningeal Solitary Fibrous Tumor/Hemangiopericytoma (#26927892#, #26883114#)
  Open references
  A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. Ichiyanagi O, Ito H, Takai S, Naito S, Kato T, (...)

• CCDC6-RET
  5 January 2014

  Pathology
  Identification of a lung adenocarcinoma cell line with CCDC6-RET fusion gene (#23578175#) Coiled-coil domain-containing protein 6 is a protein that in humans is encoded by the CCDC6 gene.
  Reference
  Identification of a lung adenocarcinoma cell line with CCDC6-RET fusion gene and the effect of RET inhibitors in vitro and in vivo. Suzuki M, Makinoshima H, Matsumoto S, Suzuki A, Mimaki S, Matsushima K, Yoh K, Goto K, Suzuki Y, Ishii G, Ochiai A, Tsuta K, Shibata T, Kohno T, (...)

• FGFR1OP-RET
  5 January 2014

  Reference
  Functional characterization of a novel FGFR1OP-RET rearrangement in hematopoietic malignancies. Bossi D, Carlomagno F, Pallavicini I, Pruneri G, Trubia M, Raviele PR, Marinelli A, Anaganti S, Cox MC, Viale G, Santoro M, Di Fiore PP, Minucci S. Mol Oncol. 2013 Nov 19. pii: S1574-7891(13)00162-2. doi:10.1016/j.molonc.2013.11.004 . PMID: #24315414#

• TRIM24-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, (...)

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