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Glioma susceptibility 9(GLM9)

MedGen UID:
908376
Concept ID:
C4225278
Finding
Synonyms: GLIOMA SUSCEPTIBILITY 9; GLM9
 
OMIM®: 606478; 616568

Disease characteristics

Excerpted from the GeneReview: POT1 Tumor Predisposition
POT1 tumor predisposition (POT1-TPD) is characterized by an increased lifetime risk for multiple cutaneous melanomas, chronic lymphocytic leukemia (CLL), angiosarcoma (particularly cardiac angiosarcomas), and gliomas. Additional cancers (e.g., colorectal cancer, thyroid cancer, breast angiosarcomas) have been reported in individuals with POT1-TPD but with very limited evidence. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years. The majority of POT1 associated cancers are diagnosed in adulthood. [from GeneReviews]
Authors:
Marie-Louise Henry  |  Jenae Osborne  |  Tobias Else   view full author information

Professional guidelines

PubMed

Dos Santos CJ, Ferreira Castro FL, de Aguiar RB, Menezes IG, Santos AC, Paulus C, Nevels M, Carlan da Silva MC
J Gen Virol 2018 Sep;99(9):1274-1285. Epub 2018 Jul 27 doi: 10.1099/jgv.0.001118. PMID: 30045780
Patel P, Baradaran H, Delgado D, Askin G, Christos P, John Tsiouris A, Gupta A
Neuro Oncol 2017 Jan;19(1):118-127. Epub 2016 Aug 8 doi: 10.1093/neuonc/now148. PMID: 27502247Free PMC Article
Lamszus K, Meyerhof W, Westphal M
J Neurooncol 1997 Dec;35(3):353-64. doi: 10.1023/a:1005893223090. PMID: 9440032

Recent clinical studies

Etiology

Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli FMG, Wu X, Daniels C, Rich JN, Jones SJM, Moore RA, Marra MA, Huang X, Reimand J, Sorensen PH, Wechsler-Reya RJ, Weiss WA, Pugh TJ, Garzia L, Kleinman CL, Stein LD, Jabado N, Malkin D, Ayrault O, Golden JA, Ellison DW, Doble B, Ramaswamy V, Werbowetski-Ogilvie TE, Suzuki H, Millen KJ, Taylor MD
Nature 2022 Sep;609(7929):1021-1028. Epub 2022 Sep 21 doi: 10.1038/s41586-022-05215-w. PMID: 36131014Free PMC Article
Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE
JAMA Netw Open 2021 Mar 1;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945. PMID: 33734413Free PMC Article
Zhang G, Xi M, Li Y, Wang L, Gao L, Zhang L, Yang Z, Shi H
Genomics 2021 Mar;113(2):706-716. Epub 2020 Dec 14 doi: 10.1016/j.ygeno.2020.12.019. PMID: 33326832
Melin BS, Barnholtz-Sloan JS, Wrensch MR, Johansen C, Il'yasova D, Kinnersley B, Ostrom QT, Labreche K, Chen Y, Armstrong G, Liu Y, Eckel-Passow JE, Decker PA, Labussière M, Idbaih A, Hoang-Xuan K, Di Stefano AL, Mokhtari K, Delattre JY, Broderick P, Galan P, Gousias K, Schramm J, Schoemaker MJ, Fleming SJ, Herms S, Heilmann S, Nöthen MM, Wichmann HE, Schreiber S, Swerdlow A, Lathrop M, Simon M, Sanson M, Andersson U, Rajaraman P, Chanock S, Linet M, Wang Z, Yeager M; GliomaScan Consortium, Wiencke JK, Hansen H, McCoy L, Rice T, Kosel ML, Sicotte H, Amos CI, Bernstein JL, Davis F, Lachance D, Lau C, Merrell RT, Shildkraut J, Ali-Osman F, Sadetzki S, Scheurer M, Shete S, Lai RK, Claus EB, Olson SH, Jenkins RB, Houlston RS, Bondy ML
Nat Genet 2017 May;49(5):789-794. Epub 2017 Mar 27 doi: 10.1038/ng.3823. PMID: 28346443Free PMC Article
Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523

Diagnosis

Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE
JAMA Netw Open 2021 Mar 1;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945. PMID: 33734413Free PMC Article
Simpson JE, Gammoh N
Open Biol 2020 Sep;10(9):200184. Epub 2020 Sep 2 doi: 10.1098/rsob.200184. PMID: 32873152Free PMC Article
Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523
Desai SS, Paulino AC, Mai WY, Teh BS
Int J Radiat Oncol Biol Phys 2006 Jul 15;65(4):1222-7. Epub 2006 Apr 19 doi: 10.1016/j.ijrobp.2006.01.038. PMID: 16626890
Lamszus K, Meyerhof W, Westphal M
J Neurooncol 1997 Dec;35(3):353-64. doi: 10.1023/a:1005893223090. PMID: 9440032

Therapy

Audi ZF, Saker Z, Rizk M, Harati H, Fares Y, Bahmad HF, Nabha SM
Curr Treat Options Oncol 2021 Jul 30;22(9):83. doi: 10.1007/s11864-021-00874-9. PMID: 34328587
Chuntova P, Downey KM, Hegde B, Almeida ND, Okada H
Front Immunol 2018;9:3062. Epub 2019 Jan 22 doi: 10.3389/fimmu.2018.03062. PMID: 30740109Free PMC Article
Patel P, Baradaran H, Delgado D, Askin G, Christos P, John Tsiouris A, Gupta A
Neuro Oncol 2017 Jan;19(1):118-127. Epub 2016 Aug 8 doi: 10.1093/neuonc/now148. PMID: 27502247Free PMC Article
Desai SS, Paulino AC, Mai WY, Teh BS
Int J Radiat Oncol Biol Phys 2006 Jul 15;65(4):1222-7. Epub 2006 Apr 19 doi: 10.1016/j.ijrobp.2006.01.038. PMID: 16626890
Lamszus K, Meyerhof W, Westphal M
J Neurooncol 1997 Dec;35(3):353-64. doi: 10.1023/a:1005893223090. PMID: 9440032

Prognosis

Zhang H, Chen Y, Liu X, Deng H
Biomolecules 2023 Sep 19;13(9) doi: 10.3390/biom13091408. PMID: 37759808Free PMC Article
Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium, Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M
Sci Adv 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. PMID: 37115922Free PMC Article
Zhang G, Xi M, Li Y, Wang L, Gao L, Zhang L, Yang Z, Shi H
Genomics 2021 Mar;113(2):706-716. Epub 2020 Dec 14 doi: 10.1016/j.ygeno.2020.12.019. PMID: 33326832
Simpson JE, Gammoh N
Open Biol 2020 Sep;10(9):200184. Epub 2020 Sep 2 doi: 10.1098/rsob.200184. PMID: 32873152Free PMC Article
Chuntova P, Downey KM, Hegde B, Almeida ND, Okada H
Front Immunol 2018;9:3062. Epub 2019 Jan 22 doi: 10.3389/fimmu.2018.03062. PMID: 30740109Free PMC Article

Clinical prediction guides

Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium, Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M
Sci Adv 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. PMID: 37115922Free PMC Article
Nazem A, Guiry SC, Pourfathi M, Ware JB, Anderson H, Iyer SK, Moon BF, Fan Y, Witschey WR, Rizi R, Bagley SJ, Desai A, O'Rourke DM, Brem S, Nasrallah M, Nabavizadeh A
J Neurooncol 2022 Feb;156(3):645-653. Epub 2022 Jan 19 doi: 10.1007/s11060-022-03947-3. PMID: 35043276
Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE
JAMA Netw Open 2021 Mar 1;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945. PMID: 33734413Free PMC Article
Zhang G, Xi M, Li Y, Wang L, Gao L, Zhang L, Yang Z, Shi H
Genomics 2021 Mar;113(2):706-716. Epub 2020 Dec 14 doi: 10.1016/j.ygeno.2020.12.019. PMID: 33326832
Simpson JE, Gammoh N
Open Biol 2020 Sep;10(9):200184. Epub 2020 Sep 2 doi: 10.1098/rsob.200184. PMID: 32873152Free PMC Article

Recent systematic reviews

Waqar M, Lewis D, Agushi E, Gittins M, Jackson A, Coope D
Br J Radiol 2021 Sep 1;94(1125):20201450. Epub 2021 Jun 9 doi: 10.1259/bjr.20201450. PMID: 34106749Free PMC Article
Abrigo JM, Fountain DM, Provenzale JM, Law EK, Kwong JS, Hart MG, Tam WWS
Cochrane Database Syst Rev 2018 Jan 22;1(1):CD011551. doi: 10.1002/14651858.CD011551.pub2. PMID: 29357120Free PMC Article
Patel P, Baradaran H, Delgado D, Askin G, Christos P, John Tsiouris A, Gupta A
Neuro Oncol 2017 Jan;19(1):118-127. Epub 2016 Aug 8 doi: 10.1093/neuonc/now148. PMID: 27502247Free PMC Article
Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523
Barrett TF, Sarkiss CA, Dyvorne HA, Lee J, Balchandani P, Shrivastava RK
World Neurosurg 2016 Feb;86:450-65. Epub 2015 Sep 25 doi: 10.1016/j.wneu.2015.09.048. PMID: 26409071

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