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
  • [1] CUTANEOUS MELANOMA - A REVIEW OF CLINICAL MANAGEMENT
    BALCH, CM
    TEXAS MEDICINE, 1987, 83 (03) : 70 - 78
  • [2] Genomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data
    Hida, Tokimasa
    Kato, Junji
    Idogawa, Masashi
    Tokino, Takashi
    Uhara, Hisashi
    INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, 2024, 29 (12) : 1984 - 1998
  • [3] Genomic Classification of Cutaneous Melanoma
    Akbani, Rehan
    Akdemir, Kadir C.
    Aksoy, B. Arman
    Albert, Monique
    Ally, Adrian
    Amin, Samirkumar B.
    Arachchi, Harindra
    Arora, Arshi
    Auman, J. Todd
    Ayala, Brenda
    Baboud, Julien
    Balasundaram, Miruna
    Balu, Saianand
    Barnabas, Nandita
    Bartlett, John
    Bartlett, Pam
    Bastian, Boris C.
    Baylin, Stephen B.
    Behera, Madhusmita
    Belyaev, Dmitry
    Benz, Christopher
    Bernard, Brady
    Beroukhim, Rameen
    Bir, Natalie
    Black, Aaron D.
    Bodenheimer, Tom
    Boice, Lori
    Boland, Genevieve M.
    Bono, Riccardo
    Bootwalla, Moiz S.
    Bosenberg, Marcus
    Bowen, Jay
    Bowlby, Reanne
    Bristow, Christopher A.
    Brockway-Lunardi, Laura
    Brooks, Denise
    Brzezinski, Jakub
    Bshara, Wiam
    Buda, Elizabeth
    Burns, William R.
    Butterfield, Yaron S. N.
    Button, Michael
    Calderone, Tiffany
    Cappellini, Giancarlo Antonini
    Carter, Candace
    Carter, Scott L.
    Cherney, Lynn
    Cherniack, Andrew D.
    Chevalier, Aaron
    Chin, Lynda
    CELL, 2015, 161 (07) : 1681 - 1696
  • [4] The genomic landscape of cutaneous melanoma
    Zhang, Tongwu
    Dutton-Regester, Ken
    Brown, Kevin M.
    Hayward, Nicholas K.
    PIGMENT CELL & MELANOMA RESEARCH, 2016, 29 (03) : 266 - 283
  • [5] Genomic classification of cutaneous melanoma
    Watson, Ian R.
    Wu, Chang-Jiun
    Zou, Lihua
    Gershenwald, Jeffrey E.
    Chin, Lynda
    CANCER RESEARCH, 2015, 75
  • [6] Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma
    Chen, Wuzhen
    Cheng, Pu
    Jiang, Jingxin
    Ren, Yunqing
    Wu, Dang
    Xue, Dan
    AGING-US, 2020, 12 (13): : 12703 - 12725
  • [7] SEOM clinical guideline for the management of cutaneous melanoma (2020)
    Majem, M.
    Manzano, J. L.
    Marquez-Rodas, I.
    Mujika, K.
    Munoz-Couselo, E.
    Perez-Ruiz, E.
    de la Cruz-Merino, L.
    Espinosa, E.
    Gonzalez-Cao, M.
    Berrocal, A.
    CLINICAL & TRANSLATIONAL ONCOLOGY, 2021, 23 (05): : 948 - 960
  • [8] Management of metastatic cutaneous melanoma: updates in clinical practice
    Schvartsman, Gustavo
    Taranto, Patricia
    Glitza, Isabella C.
    Agarwala, Sanjiv S.
    Atkins, Michael B.
    Buzaid, Antonio C.
    THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY, 2019, 11
  • [9] SEOM clinical guideline for the management of cutaneous melanoma (2020)
    M. Majem
    J. L. Manzano
    I. Marquez-Rodas
    K. Mujika
    E. Muñoz-Couselo
    E. Pérez-Ruiz
    L. de la Cruz-Merino
    E. Espinosa
    M. Gonzalez-Cao
    A. Berrocal
    Clinical and Translational Oncology, 2021, 23 : 948 - 960
  • [10] An Analysis of the Clinical Trial Landscape for Cutaneous Melanoma
    Perkins, Sara Harcharik
    Stensland, Kristian D.
    Galsky, Matthew D.
    Sivendran, Shanthi
    CUTIS, 2015, 96 (03): : 186 - 190