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Title: BRAF mutation testing for patients diagnosed with stage III or stage IV melanoma: practical guidance for the Australian setting.
Austin Authors: Scolyer, Richard A;Atkinson, Victoria;Gyorki, David E;Lambie, Duncan;O'Toole, Sandra;Saw, Robyn P M;Amanuel, Benhur;Angel, Christopher M;Button-Sloan, Alison E;Carlino, Matteo S;Ch'ng, Sydney;Colebatch, Andrew J;Daneshvar, Dariush;Pires da Silva, Inês;Dawson, Tamara;Ferguson, Peter M;Foster-Smith, Erwin;Fox, Stephen B;Gill, Anthony J;Gupta, Ruta;Henderson, Michael A;Hong, Angela M;Howle, Julie R;Jackett, Louise A ;James, Craig;Lee, C Soon;Lochhead, Alistair;Loh, Daphne;McArthur, Grant A;McLean, Catriona A;Menzies, Alexander M;Nieweg, Omgo E;O'Brien, Blake H;Pennington, Thomas E;Potter, Alison J;Prakash, Saurabh;Rawson, Robert V;Read, Rebecca L;Rtshiladze, Michael A;Shannon, Kerwin F;Smithers, B Mark;Spillane, Andrew J;Stretch, Jonathan R;Thompson, John F;Tucker, Paul;Varey, Alexander H R;Vilain, Ricardo E;Wood, Benjamin A;Long, Georgina V
Affiliation: Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia..
Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia..
NSW Health Pathology, Sydney, NSW, Australia..
Charles Perkins Centre, The University of Sydney, Sydney, NSW, Australia..
Royal Prince Alfred Hospital, Sydney, NSW, Australia..
Princess Alexandra Hospital & Greenslopes Private Hospital, Brisbane, Qld, Australia..
Queensland Melanoma Project, Princess Alexandra Hospital, Brisbane, Qld, Australia..
Faculty of Medicine, University of Queensland, Brisbane, Qld, Australia..
Peter MacCallum Cancer Centre, Melbourne, Vic, Australia..
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic, Australia...
Anatomical Pathology, Princess Alexandra Hospital, Pathology Queensland, Brisbane, Qld, Australia..
University of Queensland Diamantina Institute, Brisbane, Qld, Australia..
Mater Hospital, North Sydney, NSW, Australia..
School of Medical and Health Sciences, Edith Cowan University, WA, Australia..
PathWest Laboratory Medicine WA, Nedlands, WA, Australia..
Australia Melanoma Consumer Alliance, Melbourne, Vic, Australia..
Blacktown Hospital, Sydney, NSW, Australia..
Westmead Hospital, Sydney, NSW, Australia..
Pathology West, Tissue Pathology & Diagnostic Oncology, ICPMR-Westmead, Sydney, NSW, Australia..
Melanoma & Skin Cancer Advocacy Network, Melbourne, Vic, Australia..
SA Pathology, Royal Adelaide Hospital, Adelaide, SA, Australia..
University of Melbourne, Melbourne, Vic, Australia..
Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW, Australia..
Clinpath Pathology, Mile End, Adelaide, SA, Australia..
School of Medicine, Western Sydney University, Campbelltown, Sydney, NSW, Australia..
Ingham Institute for Applied Medical Research, Liverpool, Sydney, NSW, Australia..
Liverpool Hospital, Liverpool, Sydney, NSW, Australia..
South Western Sydney Clinical School, University of New South Wales, Sydney, NSW, Australia..
Southern.IML Pathology, Coniston, NSW, Australia..
The Wollongong Hospital, Wollongong, NSW, Australia..
University of Wollongong, Wollongong, NSW, Australia..
ACT Pathology, Canberra Hospital, Canberra, ACT, Australia..
Anatomical Pathology Department, Alfred Hospital, Melbourne, Vic, Australia..
Department of Medicine Central Clinical School, Monash University, Melbourne, Vic, Australia..
Royal North Shore Hospital, St Leonards, Sydney, NSW, Australia..
Sullivan Nicolaides Pathology, Brisbane, Qld, Australia..
Melbourne Pathology (Sonic Healthcare), Melbourne, Vic, Australia..
Calvary Health Care, Canberra, ACT, Australia..
College of Health and Medicine, Australian National University, Canberra, ACT, Australia..
Queensland Melanoma Project, Princess Alexandra Hospital, Brisbane, Qld, Australia..
Hobart Pathology, Hobart, Tas, Australia..
School of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia..
John Hunter Hospital, Newcastle, NSW, Australia..
The University of Western Australia, Perth, WA, Australia..
Issue Date: Feb-2022 2021-12-20
Publication information: Pathology 2022; 54(1): 6-19
Abstract: Targeted therapy (BRAF inhibitor plus MEK inhibitor) is now among the possible treatment options for patients with BRAF mutation-positive stage III or stage IV melanoma. This makes prompt BRAF mutation testing an important step in the management of patients diagnosed with stage III or IV melanoma; one that can help better ensure that the optimal choice of systemic treatment is initiated with minimal delay. This article offers guidance about when and how BRAF mutation testing should be conducted when patients are diagnosed with melanoma in Australia. Notably, it recommends that pathologists reflexively order BRAF mutation testing whenever a patient is found to have American Joint Committee on Cancer (AJCC)/Union for International Cancer Control (UICC) stage III or IV melanoma (i.e., any metastatic spread beyond the primary tumour) and that patient's BRAF mutation status is hitherto unknown, even if BRAF mutation testing has not been specifically requested by the treating clinician (in Australia, Medicare-subsidised BRAFV600 mutation testing does not need to be requested by the treating clinician). When performed in centres with appropriate expertise and experience, immunohistochemistry (IHC) using the anti-BRAF V600E monoclonal antibody (VE1) can be a highly sensitive and specific means of detecting BRAFV600E mutations, and may be used as a rapid and relatively inexpensive initial screening test. However, VE1 immunostaining can be technically challenging and difficult to interpret, particularly in heavily pigmented tumours; melanomas with weak, moderate or focal BRAFV600E immunostaining should be regarded as equivocal. It must also be remembered that other activating BRAFV600 mutations (including BRAFV600K), which account for ∼10-20% of BRAFV600 mutations, are not detected with currently available IHC antibodies. For these reasons, if available and practicable, we recommend that DNA-based BRAF mutation testing always be performed, regardless of whether IHC-based testing is also conducted. Advice about tissue/specimen selection for BRAF mutation testing of patients diagnosed with stage III or IV melanoma is also offered in this article; and potential pitfalls when interpreting BRAF mutation tests are highlighted.
DOI: 10.1016/j.pathol.2021.11.002
ORCID: 0000-0003-2792-6199
Journal: Pathology
PubMed URL: 34937664
PubMed URL:
Type: Journal Article
Subjects: BRAF mutation testing
BRAF mutation-positive melanoma
Stage IV melanoma
metastatic melanoma
stage III melanoma
targeted therapy
Appears in Collections:Journal articles

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