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NF1 Gene Rearrangement

MedGen UID:
1666586
Concept ID:
C4725941
Cell or Molecular Dysfunction
Synonyms: Neurofibromin 1 Gene Rearrangement; Neurofibromin Gene Rearrangement; NF-1 Gene Rearrangement; NFNS Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the NF1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNF1 Gene Rearrangement

Professional guidelines

PubMed

Naderi A
Cancer Rep (Hoboken) 2020 Oct;3(5):e1267. Epub 2020 Jul 24 doi: 10.1002/cnr2.1267. PMID: 32706923Free PMC Article
Hoogstraat M, de Pagter MS, Cirkel GA, van Roosmalen MJ, Harkins TT, Duran K, Kreeftmeijer J, Renkens I, Witteveen PO, Lee CC, Nijman IJ, Guy T, van 't Slot R, Jonges TN, Lolkema MP, Koudijs MJ, Zweemer RP, Voest EE, Cuppen E, Kloosterman WP
Genome Res 2014 Feb;24(2):200-11. Epub 2013 Nov 12 doi: 10.1101/gr.161026.113. PMID: 24221193Free PMC Article
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Recent clinical studies

Etiology

Ryall S, Zapotocky M, Fukuoka K, Nobre L, Guerreiro Stucklin A, Bennett J, Siddaway R, Li C, Pajovic S, Arnoldo A, Kowalski PE, Johnson M, Sheth J, Lassaletta A, Tatevossian RG, Orisme W, Qaddoumi I, Surrey LF, Li MM, Waanders AJ, Gilheeney S, Rosenblum M, Bale T, Tsang DS, Laperriere N, Kulkarni A, Ibrahim GM, Drake J, Dirks P, Taylor MD, Rutka JT, Laughlin S, Shroff M, Shago M, Hazrati LN, D'Arcy C, Ramaswamy V, Bartels U, Huang A, Bouffet E, Karajannis MA, Santi M, Ellison DW, Tabori U, Hawkins C
Cancer Cell 2020 Apr 13;37(4):569-583.e5. doi: 10.1016/j.ccell.2020.03.011. PMID: 32289278Free PMC Article
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
Appin CL, Brat DJ
Adv Anat Pathol 2015 Jan;22(1):50-8. doi: 10.1097/PAP.0000000000000048. PMID: 25461780
Chen YH, Gutmann DH
Oncogene 2014 Apr 17;33(16):2019-26. Epub 2013 Apr 29 doi: 10.1038/onc.2013.148. PMID: 23624918
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Diagnosis

Ryall S, Zapotocky M, Fukuoka K, Nobre L, Guerreiro Stucklin A, Bennett J, Siddaway R, Li C, Pajovic S, Arnoldo A, Kowalski PE, Johnson M, Sheth J, Lassaletta A, Tatevossian RG, Orisme W, Qaddoumi I, Surrey LF, Li MM, Waanders AJ, Gilheeney S, Rosenblum M, Bale T, Tsang DS, Laperriere N, Kulkarni A, Ibrahim GM, Drake J, Dirks P, Taylor MD, Rutka JT, Laughlin S, Shroff M, Shago M, Hazrati LN, D'Arcy C, Ramaswamy V, Bartels U, Huang A, Bouffet E, Karajannis MA, Santi M, Ellison DW, Tabori U, Hawkins C
Cancer Cell 2020 Apr 13;37(4):569-583.e5. doi: 10.1016/j.ccell.2020.03.011. PMID: 32289278Free PMC Article
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297
Appin CL, Brat DJ
Cancer J 2014 Jan-Feb;20(1):66-72. doi: 10.1097/PPO.0000000000000020. PMID: 24445767
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Therapy

Moran JMT, Le LP, Nardi V, Golas J, Farahani AA, Signorelli S, Onozato ML, Foreman RK, Duncan LM, Lawrence DP, Lennerz JK, Dias-Santagata D, Hoang MP
Mod Pathol 2022 Dec;35(12):1837-1847. Epub 2022 Jul 23 doi: 10.1038/s41379-022-01138-z. PMID: 35871080
Liu C, Liu C, Liao J, Yin JC, Wu X, Zhao X, Sun S, Wang H, Hu Z, Zhang Y, Yu H, Shao Y, Wang J
Lung Cancer 2022 Sep;171:18-25. Epub 2022 Jul 19 doi: 10.1016/j.lungcan.2022.07.011. PMID: 35870258
Dudnik E, Agbarya A, Grinberg R, Cyjon A, Bar J, Moskovitz M, Peled N; Israel Lung Cancer Group
Clin Transl Oncol 2020 Dec;22(12):2303-2311. Epub 2020 May 27 doi: 10.1007/s12094-020-02376-w. PMID: 32462394
Lehmann BD, Shaver TM, Johnson DB, Li Z, Gonzalez-Ericsson PI, Sánchez V, Shyr Y, Sanders ME, Pietenpol JA
Mol Cancer Res 2019 Sep;17(9):1842-1853. Epub 2019 Jun 11 doi: 10.1158/1541-7786.MCR-19-0257. PMID: 31186280Free PMC Article
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article

Prognosis

Egan C, Lack J, Skarshaug S, Pham TA, Abdullaev Z, Xi L, Pack S, Pittaluga S, Jaffe ES, Raffeld M
Mod Pathol 2021 Feb;34(2):336-347. Epub 2020 Sep 14 doi: 10.1038/s41379-020-00673-x. PMID: 32929178Free PMC Article
Cancer Genome Atlas Network
Cell 2015 Jun 18;161(7):1681-96. doi: 10.1016/j.cell.2015.05.044. PMID: 26091043Free PMC Article
Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297
Appin CL, Brat DJ
Adv Anat Pathol 2015 Jan;22(1):50-8. doi: 10.1097/PAP.0000000000000048. PMID: 25461780
Appin CL, Brat DJ
Cancer J 2014 Jan-Feb;20(1):66-72. doi: 10.1097/PPO.0000000000000020. PMID: 24445767

Clinical prediction guides

Appin CL, Brat DJ
Mol Aspects Med 2015 Nov;45:87-96. Epub 2015 May 21 doi: 10.1016/j.mam.2015.05.002. PMID: 26004297
Appin CL, Brat DJ
Adv Anat Pathol 2015 Jan;22(1):50-8. doi: 10.1097/PAP.0000000000000048. PMID: 25461780
Appin CL, Brat DJ
Cancer J 2014 Jan-Feb;20(1):66-72. doi: 10.1097/PPO.0000000000000020. PMID: 24445767
Wong JC, Le Beau MM, Shannon K
Best Pract Res Clin Haematol 2008 Dec;21(4):601-14. doi: 10.1016/j.beha.2008.09.001. PMID: 19041599
Steck PA, Saya H
Curr Opin Oncol 1991 Jun;3(3):476-84. doi: 10.1097/00001622-199106000-00006. PMID: 1909900

Supplemental Content

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