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Cutaneous Malignant Melanoma 2

MedGen UID:
924394
Concept ID:
C4283859
Neoplastic Process

Definition

An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous Malignant Melanoma 2

Professional guidelines

PubMed

Newlands C, Gurney B
Br J Oral Maxillofac Surg 2014 Apr;52(4):301-7. Epub 2014 Feb 22 doi: 10.1016/j.bjoms.2014.01.016. PMID: 24565440

Recent clinical studies

Etiology

Matsubara J, Mukai K, Kondo T, Yoshioka M, Kage H, Oda K, Kudo R, Ikeda S, Ebi H, Muro K, Hayashi R, Tokudome N, Yamamoto N, Muto M
JAMA Netw Open 2023 Jul 3;6(7):e2323336. doi: 10.1001/jamanetworkopen.2023.23336. PMID: 37459099Free PMC Article
Elsheikh S, Gurney SP, Burdon MA
Clin Exp Dermatol 2020 Mar;45(2):147-152. Epub 2019 Nov 19 doi: 10.1111/ced.14095. PMID: 31742740
Wright FC, Souter LH, Kellett S, Easson A, Murray C, Toye J, McCready D, Nessim C, Ghazarian D, Hong NJL, Johnson S, Goldstein DP, Petrella T; Melanoma Disease Site Group
Curr Oncol 2019 Aug;26(4):e541-e550. Epub 2019 Aug 1 doi: 10.3747/co.26.4885. PMID: 31548823Free PMC Article
Pavri SN, Clune J, Ariyan S, Narayan D
Plast Reconstr Surg 2016 Aug;138(2):330e-340e. doi: 10.1097/PRS.0000000000002367. PMID: 27465194
Wood BA
Pathology 2016 Feb;48(2):155-65. Epub 2016 Jan 16 doi: 10.1016/j.pathol.2015.12.001. PMID: 27020388

Diagnosis

Garbe C, Amaral T, Peris K, Hauschild A, Arenberger P, Basset-Seguin N, Bastholt L, Bataille V, Del Marmol V, Dréno B, Fargnoli MC, Forsea AM, Grob JJ, Hoeller C, Kaufmann R, Kelleners-Smeets N, Lallas A, Lebbé C, Lytvynenko B, Malvehy J, Moreno-Ramirez D, Nathan P, Pellacani G, Saiag P, Stratigos AJ, Van Akkooi ACJ, Vieira R, Zalaudek I, Lorigan P; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO), and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Jul;170:256-284. Epub 2022 May 24 doi: 10.1016/j.ejca.2022.04.018. PMID: 35623961
Bunnell AM, Nedrud SM, Fernandes RP
Oral Maxillofac Surg Clin North Am 2022 May;34(2):221-234. doi: 10.1016/j.coms.2021.12.001. PMID: 35491079
Elsheikh S, Gurney SP, Burdon MA
Clin Exp Dermatol 2020 Mar;45(2):147-152. Epub 2019 Nov 19 doi: 10.1111/ced.14095. PMID: 31742740
Pavri SN, Clune J, Ariyan S, Narayan D
Plast Reconstr Surg 2016 Aug;138(2):330e-340e. doi: 10.1097/PRS.0000000000002367. PMID: 27465194
Wood BA
Pathology 2016 Feb;48(2):155-65. Epub 2016 Jan 16 doi: 10.1016/j.pathol.2015.12.001. PMID: 27020388

Therapy

Kirkwood JM, Del Vecchio M, Weber J, Hoeller C, Grob JJ, Mohr P, Loquai C, Dutriaux C, Chiarion-Sileni V, Mackiewicz J, Rutkowski P, Arenberger P, Quereux G, Meniawy TM, Ascierto PA, Menzies AM, Durani P, Lobo M, Campigotto F, Gastman B, Long GV
Nat Med 2023 Nov;29(11):2835-2843. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02583-2. PMID: 37845511Free PMC Article
Larkin J, Del Vecchio M, Mandalá M, Gogas H, Arance Fernandez AM, Dalle S, Cowey CL, Schenker M, Grob JJ, Chiarion-Sileni V, Marquez-Rodas I, Butler MO, Di Giacomo AM, Middleton MR, Lutzky J, de la Cruz-Merino L, Arenberger P, Atkinson V, Hill AG, Fecher LA, Millward M, Nathan PD, Khushalani NI, Queirolo P, Ritchings C, Lobo M, Askelson M, Tang H, Dolfi S, Ascierto PA, Weber J
Clin Cancer Res 2023 Sep 1;29(17):3352-3361. doi: 10.1158/1078-0432.CCR-22-3145. PMID: 37058595Free PMC Article
Gorry C, McCullagh L, O'Donnell H, Barrett S, Schmitz S, Barry M, Curtin K, Beausang E, Barry R, Coyne I
Cochrane Database Syst Rev 2023 Jan 17;1(1):CD012974. doi: 10.1002/14651858.CD012974.pub2. PMID: 36648215Free PMC Article
Weber J, Mandala M, Del Vecchio M, Gogas HJ, Arance AM, Cowey CL, Dalle S, Schenker M, Chiarion-Sileni V, Marquez-Rodas I, Grob JJ, Butler MO, Middleton MR, Maio M, Atkinson V, Queirolo P, Gonzalez R, Kudchadkar RR, Smylie M, Meyer N, Mortier L, Atkins MB, Long GV, Bhatia S, Lebbé C, Rutkowski P, Yokota K, Yamazaki N, Kim TM, de Pril V, Sabater J, Qureshi A, Larkin J, Ascierto PA; CheckMate 238 Collaborators
N Engl J Med 2017 Nov 9;377(19):1824-1835. Epub 2017 Sep 10 doi: 10.1056/NEJMoa1709030. PMID: 28891423
Long GV, Hauschild A, Santinami M, Atkinson V, Mandalà M, Chiarion-Sileni V, Larkin J, Nyakas M, Dutriaux C, Haydon A, Robert C, Mortier L, Schachter J, Schadendorf D, Lesimple T, Plummer R, Ji R, Zhang P, Mookerjee B, Legos J, Kefford R, Dummer R, Kirkwood JM
N Engl J Med 2017 Nov 9;377(19):1813-1823. Epub 2017 Sep 10 doi: 10.1056/NEJMoa1708539. PMID: 28891408

Prognosis

He Y, Wang X
Comput Biol Med 2023 Dec;167:107591. Epub 2023 Oct 18 doi: 10.1016/j.compbiomed.2023.107591. PMID: 37875043
Xiang S, Jian L, Zeng H, Wu H, Ge B, Zhang P, Lin J, Guo A, Zhou B
Biochem Pharmacol 2023 Dec;218:115859. Epub 2023 Oct 18 doi: 10.1016/j.bcp.2023.115859. PMID: 37863326
Ponto J, Bell RB
Oral Maxillofac Surg Clin North Am 2022 May;34(2):315-324. doi: 10.1016/j.coms.2021.11.010. PMID: 35491081
Bunnell AM, Nedrud SM, Fernandes RP
Oral Maxillofac Surg Clin North Am 2022 May;34(2):221-234. doi: 10.1016/j.coms.2021.12.001. PMID: 35491079
Elsheikh S, Gurney SP, Burdon MA
Clin Exp Dermatol 2020 Mar;45(2):147-152. Epub 2019 Nov 19 doi: 10.1111/ced.14095. PMID: 31742740

Clinical prediction guides

Matsubara J, Mukai K, Kondo T, Yoshioka M, Kage H, Oda K, Kudo R, Ikeda S, Ebi H, Muro K, Hayashi R, Tokudome N, Yamamoto N, Muto M
JAMA Netw Open 2023 Jul 3;6(7):e2323336. doi: 10.1001/jamanetworkopen.2023.23336. PMID: 37459099Free PMC Article
Versluis JM, Menzies AM, Sikorska K, Rozeman EA, Saw RPM, van Houdt WJ, Eriksson H, Klop WMC, Ch'ng S, van Thienen JV, Mallo H, Gonzalez M, Torres Acosta A, Grijpink-Ongering LG, van der Wal A, Bruining A, van de Wiel BA, Scolyer RA, Haanen JBAG, Schumacher TN, van Akkooi ACJ, Long GV, Blank CU
Ann Oncol 2023 Apr;34(4):420-430. Epub 2023 Jan 18 doi: 10.1016/j.annonc.2023.01.004. PMID: 36681299
Gorry C, McCullagh L, O'Donnell H, Barrett S, Schmitz S, Barry M, Curtin K, Beausang E, Barry R, Coyne I
Cochrane Database Syst Rev 2023 Jan 17;1(1):CD012974. doi: 10.1002/14651858.CD012974.pub2. PMID: 36648215Free PMC Article
Bunnell AM, Nedrud SM, Fernandes RP
Oral Maxillofac Surg Clin North Am 2022 May;34(2):221-234. doi: 10.1016/j.coms.2021.12.001. PMID: 35491079
Wright FC, Souter LH, Kellett S, Easson A, Murray C, Toye J, McCready D, Nessim C, Ghazarian D, Hong NJL, Johnson S, Goldstein DP, Petrella T; Melanoma Disease Site Group
Curr Oncol 2019 Aug;26(4):e541-e550. Epub 2019 Aug 1 doi: 10.3747/co.26.4885. PMID: 31548823Free PMC Article

Recent systematic reviews

Clarke EL, Wade RG, Magee D, Newton-Bishop J, Treanor D
Sci Rep 2023 Mar 23;13(1):4774. doi: 10.1038/s41598-023-31526-7. PMID: 36959221Free PMC Article
Gorry C, McCullagh L, O'Donnell H, Barrett S, Schmitz S, Barry M, Curtin K, Beausang E, Barry R, Coyne I
Cochrane Database Syst Rev 2023 Jan 17;1(1):CD012974. doi: 10.1002/14651858.CD012974.pub2. PMID: 36648215Free PMC Article
Ferioli M, Lancellotta V, Perrone AM, Arcelli A, Galuppi A, Strigari L, Buwenge M, De Terlizzi F, Cammelli S, Iezzi R, De Iaco P, Tagliaferri L, Morganti AG
Clin Exp Metastasis 2022 Oct;39(5):743-755. Epub 2022 Jul 22 doi: 10.1007/s10585-022-10180-9. PMID: 35869314Free PMC Article
Dafni U, Michielin O, Lluesma SM, Tsourti Z, Polydoropoulou V, Karlis D, Besser MJ, Haanen J, Svane IM, Ohashi PS, Kammula US, Orcurto A, Zimmermann S, Trueb L, Klebanoff CA, Lotze MT, Kandalaft LE, Coukos G
Ann Oncol 2019 Dec 1;30(12):1902-1913. doi: 10.1093/annonc/mdz398. PMID: 31566658
Crosby T, Fish R, Coles B, Mason M
Cochrane Database Syst Rev 2018 Feb 7;2(2):CD001215. doi: 10.1002/14651858.CD001215.pub2. PMID: 29411867Free PMC Article

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