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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
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

Therapy

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
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
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

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
Pinto-Paz ME, Cotrina-Concha JM, Benites-Zapata VA
Cancer Treat Res Commun 2021;29:100464. Epub 2021 Sep 25 doi: 10.1016/j.ctarc.2021.100464. PMID: 34598061
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
Eisenstein A, Gonzalez EC, Raghunathan R, Xu X, Wu M, McLean EO, McGee J, Ryu B, Alani RM
Mol Diagn Ther 2018 Apr;22(2):203-218. doi: 10.1007/s40291-018-0318-z. PMID: 29411301

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
Molodtsov AK, Khatwani N, Vella JL, Lewis KA, Zhao Y, Han J, Sullivan DE, Searles TG, Preiss NK, Shabaneh TB, Zhang P, Hawkes AR, Malik BT, Kolling FW 4th, Usherwood EJ, Wong SL, Phillips JD, Shirai K, Angeles CV, Yan S, Curiel TJ, Huang YH, Cheng C, Turk MJ
Immunity 2021 Sep 14;54(9):2117-2132.e7. doi: 10.1016/j.immuni.2021.08.019. PMID: 34525340Free PMC Article
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

Tsiogka A, Rubin AI, Gregoriou S, Soulaidopoulos S, Belyayeva H, Rigopoulos D
J Eur Acad Dermatol Venereol 2024 Jan;38(1):77-83. Epub 2023 Sep 7 doi: 10.1111/jdv.19482. PMID: 37644688
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
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
Cashin RP, Lui P, Machado M, Hemels ME, Corey-Lisle PK, Einarson TR
Value Health 2008 Mar-Apr;11(2):259-71. doi: 10.1111/j.1524-4733.2007.00243.x. PMID: 18380638

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