Genomic analysis and clinical management of adolescent cutaneous melanoma

被引:12
|
作者
Rabbie, Roy [1 ,2 ]
Rashid, Mamunur [1 ]
Arance, Ana M. [3 ,4 ]
Sanchez, Marcelo [5 ]
Tell-Marti, Gemma [6 ,7 ]
Potrony, Miriam [8 ]
Conill, Carles [9 ]
van Doorn, Remco [10 ]
Dentro, Stefan [1 ]
Gruis, Nelleke A. [10 ]
Corrie, Pippa [2 ]
Iyer, Vivek [1 ]
Daniela Robles-Espinoza, Carla [11 ]
Puig-Butille, Joan A. [7 ,12 ]
Puig, Susana [6 ,7 ]
Adams, David J. [1 ]
机构
[1] Wellcome Trust Sanger Inst, Expt Canc Genet, Hinxton, Cambs, England
[2] Cambridge Univ Hosp Natl Hlth Serv Fdn Trust, Dept Oncol, Cambridge, England
[3] Hosp Clin Barcelona, Dept Med Oncol, Barcelona, Spain
[4] Hosp Clin Barcelona, Targeted Therapeut Solid Tumors Grp IDIBAPS, Barcelona, Spain
[5] Univ Barcelona, Hosp Clin, IDIBAPS, Melanoma Unit,Radiol Serv, Barcelona, Spain
[6] Hosp Clin Barcelona, Dept Dermatol, Melanoma Unit, Barcelona, Spain
[7] ISCIII, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain
[8] Barcelona Univ, Hosp Clin Barcelona, Dept Dermatol, IDIBAPS,Melanoma Unit, Barcelona, Spain
[9] Barcelona Univ, Hosp Clin, IDIBAPS, Melanoma Unit,Radiotherapy Oncol, Barcelona, Spain
[10] Leiden Univ, Med Ctr, Leiden, Netherlands
[11] Univ Nacl Autonoma Mexico, Lab Int Invest Genoma Humano, Santiago De Queretaro, Mexico
[12] Hosp Clin Barcelona, Biochem & Mol Genet Dept, Melanoma Unit, IDIBAPS, Barcelona, Spain
基金
英国惠康基金;
关键词
adolescent melanoma; germline mutation; ultraviolet radiation; BRAF mutation; immunotherapy; CONGENITAL MELANOCYTIC NEVI; PEDIATRIC MELANOMA; GERMLINE MUTATIONS; CTLA-4; BLOCKADE; VARIANTS; CHILDREN; PREDISPOSE; SKIN; CHILDHOOD; RISK;
D O I
10.1111/pcmr.12574
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Melanoma in young children is rare; however, its incidence in adolescents and young adults is rising. We describe the clinical course of a 15-year-old female diagnosed with AJCC stage IB non-ulcerated primary melanoma, who died from metastatic disease 4 years after diagnosis despite three lines of modern systemic therapy. We also present the complete genomic profile of her tumour and compare this to a further series of 13 adolescent melanomas and 275 adult cutaneous melanomas. A somatic BRAF(V600E) mutation and a high mutational load equivalent to that found in adult melanoma and composed primarily of C>T mutations were observed. A germline genomic analysis alongside a series of 23 children and adolescents with melanoma revealed no mutations in known germline melanoma-predisposing genes. Adolescent melanomas appear to have genomes that are as complex as those arising in adulthood and their clinical course can, as with adults, be unpredictable.
引用
收藏
页码:307 / 316
页数:10
相关论文
共 50 条
  • [21] Management of Cutaneous Melanoma of the Nose
    Bond, J. S.
    Haydu, L.
    Quinn, M.
    Saw, R.
    Jonathon, S.
    Thompson, J. F.
    ANNALS OF SURGICAL ONCOLOGY, 2012, 19 : S133 - S133
  • [22] Surgery and the management of cutaneous melanoma
    Allan, C.
    Smithers, B. M.
    BRITISH JOURNAL OF SURGERY, 2013, 100 (03) : 313 - 315
  • [23] Diagnosis and management of cutaneous melanoma
    Mar, Victoria J.
    Soyer, H. Peter
    Button-Sloan, Alison
    Fishburn, Paul
    Gyorki, David E.
    Hardy, Margaret
    Henderson, Michael
    Thompson, John F.
    AUSTRALIAN JOURNAL OF GENERAL PRACTICE, 2020, 49 (11) : 733 - 739
  • [24] Updates to the Management of Cutaneous Melanoma
    Johnson, Douglas B.
    JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2024, 22
  • [25] The Pathogenesis and Clinical Management of Cutaneous Melanoma: An Evidence-Based Review
    Burns, Deanna
    George, Jessica
    Aucoin, Danielle
    Bower, Jonathan
    Burrell, Steven
    Gilbert, Robert
    Bower, Nichole
    JOURNAL OF MEDICAL IMAGING AND RADIATION SCIENCES, 2019, 50 (03) : 460 - +
  • [26] Is nonmetastatic cutaneous melanoma predictable through genomic biomarkers?
    Branca, Mattia
    Orso, Samuel
    Molinari, Roberto C.
    Xu, Haotian
    Guerrier, Stephane
    Zhang, Yuming
    Mili, Nabil
    MELANOMA RESEARCH, 2018, 28 (01) : 21 - 29
  • [27] Comparative genomic hybridization analysis of archival biopsies of human cutaneous malignant melanoma.
    Wiltshire, RN
    Duray, P
    Meltzer, PS
    Liotta, LA
    Trent, JM
    LABORATORY INVESTIGATION, 1997, 76 (01) : 264 - 264
  • [28] Better prognostic determination and feature characterization of cutaneous melanoma through integrative genomic analysis
    Li, Xia
    Cai, Yunpeng
    AGING-US, 2019, 11 (14): : 5081 - 5107
  • [29] Surgical Management of Primary Cutaneous Melanoma
    Joyce, Daniel
    Skitzki, Joseph J.
    SURGICAL CLINICS OF NORTH AMERICA, 2020, 100 (01) : 61 - +
  • [30] Surgical management of primary cutaneous melanoma
    Urist, MM
    CA-A CANCER JOURNAL FOR CLINICIANS, 1996, 46 (04) : 217 - +