Fusion genes

• complex rearrangement of TRPM1-PUM1-LCK
  30 March 2022

  Tumors
  agminated Spitz nevi arising in a giant congenital hyperpigmented macule (#32386465#)

• EWSR1/FUS-CREBs
  15 September 2020

  EWSR1/FUS-CREBs fusion genes
  Fusions between EWSR1 or FUS with genes encoding for CREB-transcription factors family (ATF1, CREB1, and CREM) drives the pathogenesis of various tumor types spanning mesenchymal, neuroectodermal, and epithelial lineages.
  Gene fusions constitute pivotal driver mutations often encoding aberrant chimeric transcription factors.
  However, an increasing number of gene fusion events have been shown not to be histotype specific and shared among different tumor types, (...)

• MEIS1-NCOA2
  6 September 2018

  Pathology
  Novel MEIS1-NCOA2 gene fusions define a distinct primitive spindle cell sarcoma of the kidney. (#30179902#)

• BRAF-GIT2
  4 December 2017

  Pathology
  BRAF-GIT2 fusion gene in pilocytic astrocytoma
  Open references
  A novel GIT2-BRAF fusion in pilocytic astrocytoma.
  Helgager J, Lidov HG, Mahadevan NR, Kieran MW, Ligon KL, Alexandrescu S.
  Diagn Pathol. 2017 Nov 15;12(1):82. doi:10.1186/s13000-017-0669-5.
  PMID: #29141672# Free

• JAZF1-SUZ12
  25 July 2017

  WKP WKP
  Images
  LOW-GRADE ENDOMETRIAL STROMAL SARCOMA. NGS: JAZF1-SUZ12. NB: permeation of myometrium; whorls of bland spindle cells; prominent arterioles. https://twitter.com/histiocytosisX/status/888838034518671360
  Pathology
  fusion genes between JAZF1 at 7p15 and JJAZ1 at 17q21 by t(7;17)(p15;q21) in endometrial stromal tumors
  References
  Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Cin PD, Fletcher JA, Sklar J. Frequent fusion of the JAZF1 and JJAZ1 (...)

• EWSR1-FEV
  25 July 2017

  Tumors
  Ewing sarcoma
  Paywall references
  Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation. Milione M, Gasparini P, Sozzi G, Mazzaferro V, Ferrari A, Casali PG, Perrone F, Tamborini E, Pellegrinelli A, Gherardi G, Arrigoni G, Collini P, Testi A, De Paoli E, Aiello A, Pilotti S, Pelosi G. Histopathology. 2014 Jun;64(7):1014-26. doi:10.1111/his.12350. PMID: #24898918#
  Molecular diagnosis in Ewing family (...)

• PAX8-PPARG
  17 June 2017

  Pax-8 PPAR-gamma fusion gene
  PAX8 and PPARG fusion gene is found in follicular lesions: follicular carcinoma, some follicular adenomas and follicular variants of papillary carcinoma.

• THADA
  7 March 2017

  Pathology
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer. ( #28193878# )
  most IGF3BP3-THADA positive thyroid neoplasms are well circumscribed and have subtle nuclear alterations. https://twitter.com/chioseasi/status/831325327729258497 https://twitter.com/chioseasi/status/831324383645986821 https://twitter.com/chioseasi/status/831324780615888896
  References
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid (...)

• CIC-NUTM2A
  22 February 2017

  NUTM2A-CIC
  Pathology
  CIC-NUTM2A fusion gene in small round cell sarcoma https://twitter.com/PathologyTweet/status/834414989641383938
  See also
  CIC
  NUTM2A
  Paywall references
  NUTM2A-CIC fusion small round cell sarcoma: A genetically distinct variant of CIC-rearranged sarcoma. 2017. doi:10.1016/j.humpath.2017.01.012.

• IGF3BP3-THADA
  17 February 2017

  Pathology
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid cancer. ( #28193878# )
  most IGF3BP3-THADA positive thyroid neoplasms are well circumscribed and have subtle nuclear alterations. https://twitter.com/chioseasi/status/831325327729258497 https://twitter.com/chioseasi/status/831324383645986821 https://twitter.com/chioseasi/status/831324780615888896
  References
  THADA fusion is a mechanism of IGF2BP3 activation and IGF1R signaling in thyroid (...)

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