Involved in translocations

Articles

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• CDK5RAP2
  3 April 2005

  Pathology
  germline mutations in primary autosomal recessive microcephaly type 3 (MIM.604804)
  CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
  References
  Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA (...)

• RANBP2
  29 March 2005

  Pathology
  Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in : ALK-associated inflammatory myofibroblastic tumor (#12661011#) at 2q11-q13 by t(2;2)(p23;q13) ALK-associated epithelioid inflammatory myofibroblastic sarcoma ( RANBP2-ALK )
  Open references
  A case report of epithelioid inflammatory myofibroblastic sarcoma with RANBP2-ALK fusion gene treated with the ALK inhibitor, crizotinib.
  Kimbara S, Takeda K, Fukushima H, Inoue T, Okada H, Shibata Y, Katsushima U, Tsuya A, (...)

• EWSR1
  15 November 2003

  EWS

• PAX8
  5 July 2004

  PO
  Definition: PAX8 is a paired-box gene important in embryogenesis of the thyroid, Müllerian tract, and renal/upper urinary tracts.
  Images
  FNA of extraovarian primary peritoneal carcinoma metastatic to supraclavicular lymphnode ER+ PAX8+ https://twitter.com/pathologyfinder/status/768395560562876416
  Function
  Pax8 is a transcription factor associated with the embryonic development of the thyroid gland, kidney, and the Müllerian system and plays a role in the tumorigenesis of these (...)

• CRTC1
  8 May 2005

  TORC1, mucoepidermoid carcinoma-translocated 1, CRTC1; MECT1
  Pathology
  MAML2-CRTC1 gene fusion by t(11;19)(q21;p13) in
  mucoepidermoid carcinoma
  benign Warthin tumor
  cutaneous clear cell hidradenoma (#15729701#)
  The CRTC1-MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator.
  CRTC1-MAML2 translocation is highly specific for MEC and imparts a better prognosis. However, it is (...)

• DUX4
  30 January 2008

  Molecular biology
  CIC-DUX4 gen fusion in Ewing-like sarcoma
  Ewing-like sarcomas with t(4;19)(q35;q13)
  Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
  fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (#16717057#)
  CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a (...)

• SS18
  1 February 2008

  SYT

• WIF1
  3 September 2007

  Function
  WNTs proteins are extracellular signaling molecules involved in the control of embryonic development. There are at least 2 families of secreted inhibitors of WNT signaling:
  the secreted frizzled-related protein family (as SFRP1; MIM.604156), all of which have an N-terminal cysteine-rich domain and are transmembrane receptors;
  and the Dickkopf (German for ’big head,’ or ’stubborn’) family (as DKK1; MIM. 605189).
  Pathology
  WIF1/HMGA2 fusion in pleomorphic adenomas (#17171686#) (...)

• COL1A1
  21 May 2004

  Definition: COL1A1 (MIM.120150) is also called collagen of skin, tendon and bone COL1A1 (MIM.120150).
  Pathology
  germline COL1A1 mutations in :
  osteogenesis imperfecta type 1 (OI1)
  osteogenesis imperfecta type 2 (OI2s)
  osteogenesis imperfecta type 2A (OI2A)
  osteogenesis imperfecta type 2C (OI2C)
  osteogenesis imperfecta type 2 thin-bone subtype
  osteogenesis imperfecta type 3 (OI3)
  osteogenesis imperfecta type 4 (O4)
  bined osteogenesis imperfecta (MIM.166200) and (...)

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