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NF2 Gene Rearrangement

MedGen UID:
1661819
•Concept ID:
C4725943
•
Cell or Molecular Dysfunction
Synonyms: ACN Gene Rearrangement; BANF Gene Rearrangement; Merlin Gene Rearrangement; Neurofibromin 2 Gene Rearrangement; NF-2 Gene Rearrangement; SCH Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the NF2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNF2 Gene Rearrangement

Recent clinical studies

Etiology

A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Zhang Y, Chen F, Donehower LA, Scheurer ME, Creighton CJ
Nat Commun 2021 Feb 10;12(1):937. doi: 10.1038/s41467-021-21081-y. PMID: 33568653Free PMC Article
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G
Acta Neuropathol 2021 Jan;141(1):101-116. Epub 2020 Oct 6 doi: 10.1007/s00401-020-02230-x. PMID: 33025139Free PMC Article
Diverse Resistance Mechanisms to the Third-Generation ALK Inhibitor Lorlatinib in ALK-Rearranged Lung Cancer.
Recondo G, Mezquita L, Facchinetti F, Planchard D, Gazzah A, Bigot L, Rizvi AZ, Frias RL, Thiery JP, Scoazec JY, Sourisseau T, Howarth K, Deas O, Samofalova D, Galissant J, Tesson P, Braye F, Naltet C, Lavaud P, Mahjoubi L, Abou Lovergne A, Vassal G, Bahleda R, Hollebecque A, Nicotra C, Ngo-Camus M, Michiels S, Lacroix L, Richon C, Auger N, De Baere T, Tselikas L, Solary E, Angevin E, Eggermont AM, Andre F, Massard C, Olaussen KA, Soria JC, Besse B, Friboulet L
Clin Cancer Res 2020 Jan 1;26(1):242-255. Epub 2019 Oct 4 doi: 10.1158/1078-0432.CCR-19-1104. PMID: 31585938Free PMC Article
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait B
Neurochirurgie 2018 Nov;64(5):335-341. Epub 2015 Jun 12 doi: 10.1016/j.neuchi.2015.01.004. PMID: 26073919
Genomic Characterization of Renal Cell Carcinoma with Sarcomatoid Dedifferentiation Pinpoints Recurrent Genomic Alterations.
Malouf GG, Ali SM, Wang K, Balasubramanian S, Ross JS, Miller VA, Stephens PJ, Khayat D, Pal SK, Su X, Sircar K, Tamboli P, Jonasch E, Tannir NM, Wood CG, Karam JA
Eur Urol 2016 Aug;70(2):348-57. Epub 2016 Feb 16 doi: 10.1016/j.eururo.2016.01.051. PMID: 26895810

Diagnosis

Peritoneal Mesothelioma-An Update.
Malpica A
Adv Anat Pathol 2023 Jul 1;30(4):262-274. Epub 2022 Dec 12 doi: 10.1097/PAP.0000000000000387. PMID: 36729766
Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma.
Collins K, Hwang M, Antic T, Paintal A, Argani P, Matoso A, Gopinath A, Baskovich B, Mehra R, Williamson SR, Idrees MT, Barletta JA, Anderson WJ, Hirsch MS, Hornick JL, Acosta AM
Histopathology 2022 Nov;81(5):577-586. Epub 2022 Aug 16 doi: 10.1111/his.14731. PMID: 35971742
Diverse Resistance Mechanisms to the Third-Generation ALK Inhibitor Lorlatinib in ALK-Rearranged Lung Cancer.
Recondo G, Mezquita L, Facchinetti F, Planchard D, Gazzah A, Bigot L, Rizvi AZ, Frias RL, Thiery JP, Scoazec JY, Sourisseau T, Howarth K, Deas O, Samofalova D, Galissant J, Tesson P, Braye F, Naltet C, Lavaud P, Mahjoubi L, Abou Lovergne A, Vassal G, Bahleda R, Hollebecque A, Nicotra C, Ngo-Camus M, Michiels S, Lacroix L, Richon C, Auger N, De Baere T, Tselikas L, Solary E, Angevin E, Eggermont AM, Andre F, Massard C, Olaussen KA, Soria JC, Besse B, Friboulet L
Clin Cancer Res 2020 Jan 1;26(1):242-255. Epub 2019 Oct 4 doi: 10.1158/1078-0432.CCR-19-1104. PMID: 31585938Free PMC Article
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait B
Neurochirurgie 2018 Nov;64(5):335-341. Epub 2015 Jun 12 doi: 10.1016/j.neuchi.2015.01.004. PMID: 26073919
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L
Genet Test 2008 Jun;12(2):311-8. doi: 10.1089/gte.2007.0096. PMID: 18554169

Therapy

Diverse Resistance Mechanisms to the Third-Generation ALK Inhibitor Lorlatinib in ALK-Rearranged Lung Cancer.
Recondo G, Mezquita L, Facchinetti F, Planchard D, Gazzah A, Bigot L, Rizvi AZ, Frias RL, Thiery JP, Scoazec JY, Sourisseau T, Howarth K, Deas O, Samofalova D, Galissant J, Tesson P, Braye F, Naltet C, Lavaud P, Mahjoubi L, Abou Lovergne A, Vassal G, Bahleda R, Hollebecque A, Nicotra C, Ngo-Camus M, Michiels S, Lacroix L, Richon C, Auger N, De Baere T, Tselikas L, Solary E, Angevin E, Eggermont AM, Andre F, Massard C, Olaussen KA, Soria JC, Besse B, Friboulet L
Clin Cancer Res 2020 Jan 1;26(1):242-255. Epub 2019 Oct 4 doi: 10.1158/1078-0432.CCR-19-1104. PMID: 31585938Free PMC Article
A prolonged response to platinum-based therapy in a patient with metastatic urothelial carcinoma harboring a single rearranged and truncated NF2 gene.
Achkar T, Ali SM, Welsh A, Dhir R, Gollin SM, Parikh RA
Genes Chromosomes Cancer 2018 Aug;57(8):430-433. Epub 2018 Mar 30 doi: 10.1002/gcc.22537. PMID: 29532557
Therapeutic radiation for childhood cancer drives structural aberrations of NF2 in meningiomas.
Agnihotri S, Suppiah S, Tonge PD, Jalali S, Danesh A, Bruce JP, Mamatjan Y, Klironomos G, Gonen L, Au K, Mansouri S, Karimi S, Sahm F, von Deimling A, Taylor MD, Laperriere NJ, Pugh TJ, Aldape KD, Zadeh G
Nat Commun 2017 Aug 4;8(1):186. doi: 10.1038/s41467-017-00174-7. PMID: 28775249Free PMC Article
Personalized comprehensive molecular profiling of high risk osteosarcoma: Implications and limitations for precision medicine.
Subbiah V, Wagner MJ, McGuire MF, Sarwari NM, Devarajan E, Lewis VO, Westin S, Kato S, Brown RE, Anderson P
Oncotarget 2015 Dec 1;6(38):40642-54. doi: 10.18632/oncotarget.5841. PMID: 26510912Free PMC Article

Prognosis

Genomic landscape of pleural and peritoneal mesothelioma tumours.
Hiltbrunner S, Fleischmann Z, Sokol ES, Zoche M, Felley-Bosco E, Curioni-Fontecedro A
Br J Cancer 2022 Nov;127(11):1997-2005. Epub 2022 Sep 22 doi: 10.1038/s41416-022-01979-0. PMID: 36138075Free PMC Article
Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas.
Lin DI, Huang RSP, Mata DA, Decker B, Danziger N, Lechpammer M, Hiemenz M, Ramkissoon SH, Ross JS, Elvin JA
Mod Pathol 2021 Dec;34(12):2200-2210. Epub 2021 Jul 23 doi: 10.1038/s41379-021-00873-z. PMID: 34302054
A prolonged response to platinum-based therapy in a patient with metastatic urothelial carcinoma harboring a single rearranged and truncated NF2 gene.
Achkar T, Ali SM, Welsh A, Dhir R, Gollin SM, Parikh RA
Genes Chromosomes Cancer 2018 Aug;57(8):430-433. Epub 2018 Mar 30 doi: 10.1002/gcc.22537. PMID: 29532557
Characterization of Clinical Cases of Advanced Papillary Renal Cell Carcinoma via Comprehensive Genomic Profiling.
Pal SK, Ali SM, Yakirevich E, Geynisman DM, Karam JA, Elvin JA, Frampton GM, Huang X, Lin DI, Rosenzweig M, Lipson D, Stephens PJ, Ross JS, Miller VA, Agarwal N, Shuch B, Choueiri TK, Chung JH
Eur Urol 2018 Jan;73(1):71-78. Epub 2017 Jun 4 doi: 10.1016/j.eururo.2017.05.033. PMID: 28592388
NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.
Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA
Neuromolecular Med 2003;3(1):41-52. doi: 10.1385/NMM:3:1:41. PMID: 12665675

Clinical prediction guides

Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma.
Collins K, Hwang M, Antic T, Paintal A, Argani P, Matoso A, Gopinath A, Baskovich B, Mehra R, Williamson SR, Idrees MT, Barletta JA, Anderson WJ, Hirsch MS, Hornick JL, Acosta AM
Histopathology 2022 Nov;81(5):577-586. Epub 2022 Aug 16 doi: 10.1111/his.14731. PMID: 35971742
Characterization of Clinical Cases of Advanced Papillary Renal Cell Carcinoma via Comprehensive Genomic Profiling.
Pal SK, Ali SM, Yakirevich E, Geynisman DM, Karam JA, Elvin JA, Frampton GM, Huang X, Lin DI, Rosenzweig M, Lipson D, Stephens PJ, Ross JS, Miller VA, Agarwal N, Shuch B, Choueiri TK, Chung JH
Eur Urol 2018 Jan;73(1):71-78. Epub 2017 Jun 4 doi: 10.1016/j.eururo.2017.05.033. PMID: 28592388
Therapeutic radiation for childhood cancer drives structural aberrations of NF2 in meningiomas.
Agnihotri S, Suppiah S, Tonge PD, Jalali S, Danesh A, Bruce JP, Mamatjan Y, Klironomos G, Gonen L, Au K, Mansouri S, Karimi S, Sahm F, von Deimling A, Taylor MD, Laperriere NJ, Pugh TJ, Aldape KD, Zadeh G
Nat Commun 2017 Aug 4;8(1):186. doi: 10.1038/s41467-017-00174-7. PMID: 28775249Free PMC Article
NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.
Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA
Neuromolecular Med 2003;3(1):41-52. doi: 10.1385/NMM:3:1:41. PMID: 12665675
NF2 gene in neurofibromatosis type 2 patients.
Zucman-Rossi J, Legoix P, Der Sarkissian H, Cheret G, Sor F, Bernardi A, Cazes L, Giraud S, Ollagnon E, Lenoir G, Thomas G
Hum Mol Genet 1998 Dec;7(13):2095-101. doi: 10.1093/hmg/7.13.2095. PMID: 9817927

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