Fusion genes

• NCOA2-RHOH
  13 January

  RHOH-NCOA2
  Pathology
  NCOA2-RHOH gene fusion involving RHOH ( AHRR ) and NCOA2 genes by t(5;8)(p15;q13) in soft tissue angiofibroma
  Open references
  Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma. Panagopoulos I, Gorunova L, Viset T, Heim S. Oncol Rep. 2016 Nov;36(5):2455-2462. doi:10.3892/or.2016.5096. PMID: #27633981# Free
  Paywall references (...)

• FUS-CREB3L1
  28 December 2016

  See FUS and CREB3L1
  Pathology
  Low-grade fibromyxoid sarcoma (LGFMS) bear either the t(7,16)(q32-34;p11) or t(11,16) (p11;p11) translocations, resulting in CREB3L2-FUS-or CREB3L1-FUS gene fusions, respectively.

• FUS-CREB3L2
  28 December 2016

  Pathology
  Low-grade fibromyxoid sarcomas (LGFMS) bear either the t(7,16) (q32-34;p11) or t(11,16) (p11;p11) translocations, resulting in FUS-CREB3L2 or FUS-CREB3L1 fusions, respectively.

• PPPR6R3-USP6
  18 November 2016

  PPPR6-USP6 gene fusion, which resulting in USP6 mRNA transcriptional upregulation, in nodualr fasciitis .
  References
  PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis. 2016. doi:10.1002/gcc.22366.

• HEY1-NCOA2
  17 November 2016

  Pathology
  HEY1-NCOA2 Gene Fusion in mesenchymal chondrosarcoma (#27544802#) between HEY1 and NCOA2
  AHRR-NCOA2 gene fusion in angiofibroma of soft tissue
  Open references
  Chromosome aberrations and HEY1-NCOA2 fusion gene in a mesenchymal chondrosarcoma. Panagopoulos I, Gorunova L, Bjerkehagen B, Boye K, Heim S.
  Oncol Rep. 2014 Jul;32(1):40-4. doi:10.3892/or.2014.3180.
  PMID: #24839999# (...)

• EWSR1-SP3
  6 November 2016

  Pathology
  EWSR1-SP3 fusion gene in undifferentiated small round cell sarcoma and Ewing-like sarcoma (#17690209#)
  See also
  EWSR1
  SP3

• MYB-NFIB
  4 November 2016

  See also : MYB | NFIB
  Pathology
  MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast (#25217885#)
  Paywall References
  MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features. D’Alfonso TM, Mosquera JM, MacDonald TY, Padilla J, Liu YF, Rubin MA, Shin SJ. Hum Pathol. 2014 Nov;45(11):2270-80. doi:10.1016/j.humpath.2014.07.013.
  PMID: (...)

• SFPQ-TFE3
  4 November 2016

  Pathology
  Fusion SFPQ-TFE3 gene in papillary renal cell carcinoma (#9393982#) melanotic Xp11 translocation renal cancer (#19809274#)
  References
  Melanotic Xp11 Translocation Renal Cancer: A Case With PSF-TFE3 Gene Fusion and Up-regulation of Melanogenetic Transcripts. Chang IW, Huang HY, Sung MT. Am J Surg Pathol. 2009 Oct 3. PMID: #19809274#
  Perivascular Epithelioid Cell Tumor With SFPQ/PSF-TFE3 Gene Fusion in a Patient With Advanced Neuroblastoma. Tanaka M, Kato K, Gomi K, (...)

• NCOA1-PAX3
  4 November 2016

  PAX3-NCOA1
  Pathology
  t(2;2)(q35;p23) creating a PAX3/NCOA1 fusion gene (PAX3 at 2q35 and NCOA1 at 2p23) in alveolar rhabdomyosarcoma (#15313887#) NCOA1-PAX3 fusion gene by t(2;2)(q35;p23) (PAX3 at 2q35 and NCOA1 at 2p23) (#15313887#)
  PAX3-NCOA1 fusion gene in biphenotypic sinonasal sarcoma With focal rhabdomyoblastic differentiation.

• TFE3-YAP1
  3 November 2016

  YAP1-TFE3
  Pathology
  YAP1-TFE3 fusion gene in a small subset (<5%) of epithelioid hemangioendothelioma (EHE) Epithelioid hemangioendothelioma (EHE) is a malignant endothelial neoplasm characterized by recurrent translocations involving chromosomal regions 1p36.3 and 3q25, resulting in the formation of a WWTR1-CAMTA1 fusion gene in approximately 90% of cases. A WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. (...)

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