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Melanoma, cutaneous malignant, susceptibility to, 7(CMM7)

MedGen UID:
394200
•Concept ID:
C2677089
•
Finding
Synonyms: CMM7; Cutaneous malignant melanoma 7
 
Monarch Initiative: MONDO:0012842
OMIM®: 612263

Definition

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). [from OMIM]

Professional guidelines

PubMed

Impact of melanoma genetic test reporting on perceived control over melanoma prevention.
Aspinwall LG, Stump TK, Taber JM, Kohlmann W, Leaf SL, Leachman SA
J Behav Med 2015 Oct;38(5):754-65. Epub 2015 Mar 31 doi: 10.1007/s10865-015-9631-8. PMID: 25822116Free PMC Article

Recent clinical studies

Etiology

Germline genomic findings in children and young adults with melanocytic tumors.
Nagel MB, Perrino MR, Nuccio R, Blake AK, Harrison L, Nichols KE, Pappo AS
Pediatr Blood Cancer 2023 Jul;70(7):e30361. Epub 2023 Apr 19 doi: 10.1002/pbc.30361. PMID: 37073685
The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.
Pellegrini S, Elefanti L, Dall'Olmo L, Menin C
Genes (Basel) 2021 Jul 16;12(7) doi: 10.3390/genes12071077. PMID: 34356093Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK
Fam Cancer 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. PMID: 26251183
Clinicopathological characteristics and mutation profiling in primary cutaneous melanoma.
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

Diagnosis

Germline genomic findings in children and young adults with melanocytic tumors.
Nagel MB, Perrino MR, Nuccio R, Blake AK, Harrison L, Nichols KE, Pappo AS
Pediatr Blood Cancer 2023 Jul;70(7):e30361. Epub 2023 Apr 19 doi: 10.1002/pbc.30361. PMID: 37073685
Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Carbone M, Pass HI, Ak G, Alexander HR Jr, Baas P, Baumann F, Blakely AM, Bueno R, Bzura A, Cardillo G, Churpek JE, Dianzani I, De Rienzo A, Emi M, Emri S, Felley-Bosco E, Fennell DA, Flores RM, Grosso F, Hayward NK, Hesdorffer M, Hoang CD, Johansson PA, Kindler HL, Kittaneh M, Krausz T, Mansfield A, Metintas M, Minaai M, Mutti L, Nielsen M, O'Byrne K, Opitz I, Pastorino S, Pentimalli F, de Perrot M, Pritchard A, Ripley RT, Robinson B, Rusch V, Taioli E, Takinishi Y, Tanji M, Tsao AS, Tuncer AM, Walpole S, Wolf A, Yang H, Yoshikawa Y, Zolondick A, Schrump DS, Hassan R
J Thorac Oncol 2022 Jul;17(7):873-889. Epub 2022 Apr 21 doi: 10.1016/j.jtho.2022.03.014. PMID: 35462085Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Targeted Genomic Profiling of Acral Melanoma.
Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM
J Natl Cancer Inst 2019 Oct 1;111(10):1068-1077. doi: 10.1093/jnci/djz005. PMID: 30657954Free PMC Article
Clinicopathological characteristics and mutation profiling in primary cutaneous melanoma.
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

Therapy

The role of serum interleukins in Cancer: A Multi-center Mendelian Randomization study.
Zhang Z, Wang J, Teng M, Yan X, Liu Q
Int Immunopharmacol 2024 Aug 20;137:112520. Epub 2024 Jun 19 doi: 10.1016/j.intimp.2024.112520. PMID: 38901247
Expression Differences in BCL2 Family Members between Uveal and Cutaneous Melanomas Account for Varying Sensitivity to BH3 Mimetics.
Mukherjee N, Dart CR, Amato CM, Honig-Frand A, Lambert JR, Lambert KA, Robinson WA, Tobin RP, McCarter MD, Couts KL, Fujita M, Norris DA, Shellman YG
J Invest Dermatol 2022 Jul;142(7):1912-1922.e7. Epub 2021 Dec 20 doi: 10.1016/j.jid.2021.11.035. PMID: 34942200Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
UVB: susceptibility in malignant melanoma.
Nasser N
An Bras Dermatol 2010 Nov-Dec;85(6):843-8. doi: 10.1590/s0365-05962010000600010. PMID: 21308308

Prognosis

Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK
Fam Cancer 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. PMID: 26251183
Clinicopathological characteristics and mutation profiling in primary cutaneous melanoma.
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015
Ocular melanoma: an overview of the current status.
Jovanovic P, Mihajlovic M, Djordjevic-Jocic J, Vlajkovic S, Cekic S, Stefanovic V
Int J Clin Exp Pathol 2013;6(7):1230-44. Epub 2013 Jun 15 PMID: 23826405Free PMC Article
The current epidemiology of cutaneous malignant melanoma.
Berwick M, Wiggins C
Front Biosci 2006 May 1;11:1244-54. doi: 10.2741/1877. PMID: 16368510

Clinical prediction guides

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Carbone M, Pass HI, Ak G, Alexander HR Jr, Baas P, Baumann F, Blakely AM, Bueno R, Bzura A, Cardillo G, Churpek JE, Dianzani I, De Rienzo A, Emi M, Emri S, Felley-Bosco E, Fennell DA, Flores RM, Grosso F, Hayward NK, Hesdorffer M, Hoang CD, Johansson PA, Kindler HL, Kittaneh M, Krausz T, Mansfield A, Metintas M, Minaai M, Mutti L, Nielsen M, O'Byrne K, Opitz I, Pastorino S, Pentimalli F, de Perrot M, Pritchard A, Ripley RT, Robinson B, Rusch V, Taioli E, Takinishi Y, Tanji M, Tsao AS, Tuncer AM, Walpole S, Wolf A, Yang H, Yoshikawa Y, Zolondick A, Schrump DS, Hassan R
J Thorac Oncol 2022 Jul;17(7):873-889. Epub 2022 Apr 21 doi: 10.1016/j.jtho.2022.03.014. PMID: 35462085Free PMC Article
The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.
Pellegrini S, Elefanti L, Dall'Olmo L, Menin C
Genes (Basel) 2021 Jul 16;12(7) doi: 10.3390/genes12071077. PMID: 34356093Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK
Fam Cancer 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. PMID: 26251183

Recent systematic reviews

Association of XPG rs17655G>C and XPF rs1799801T>C Polymorphisms with Susceptibility to Cutaneous Malignant Melanoma: Evidence from a Case-Control Study, Systematic Review and Meta-Analysis.
Mohammadreza Niktabar S, Alireza Dastgheib S, Heiranizadeh N, Kargar S, Raee-Ezzabadi A, Jarahzadeh MH, Mohsen Miresmaeili S, Zare-Shehneh M, Neamatzadeh H
Klin Onkol 2020 Spring;33(3):184-194. doi: 10.14735/amko2020184. PMID: 32683874

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