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- Presentation
The Role of Ancillary / Molecular Techniques in Reducing Melanoma Overdiagnosis
Description
The presentation by Dan Lozo from Stony Brook University discusses the challenges and solutions in reducing melanoma overdiagnosis through ancillary and molecular techniques. Overdiagnosis remains a significant issue, particularly in ambiguous cases where pathologists struggle to determine the malignant potential of lesions. The Empath DX tool is highlighted, which classifies lesions into four categories aiding pathologists in assessing whether a lesion is benign or malignant. Techniques such as CGH, FISH, and gene expression profiling (GEP) tests are described, emphasizing their role in assisting diagnosis and their limitations due to reliance on subjective interpretations by pathologists. While some techniques have shown promise, they must be interpreted cautiously, as no definitive 'gold standard' exists in the field. The importance of collaboration among dermatologists and pathologists is stressed to manage ambiguous cases effectively and to utilize diagnostic tests primarily to confirm one’s clinical opinion rather than as standalone diagnostic tools. The talk concludes by acknowledging that while molecular techniques can provide insights, the essence of diagnostics relies on thorough histopathological evaluation and expert consultations.
View moreConclusions
- Ancillary molecular techniques can help diagnose melanoma more accurately and reduce overdiagnosis.
- Pathologists often reach agreement on clear cases but have low concordance on ambiguous lesions.
- Ancillary tests such as GEP and IHC may prevent overdiagnosis by providing additional diagnostic support.
- The gold standard for testing accuracy is still the histopathological diagnosis, which can be subjective.
- Long-term outcomes for ambiguous lesions are often unknown due to treatment bias preventing true observations.
- There is a trend towards more aggressive treatment of ambiguous lesions, complicating the understanding of their natural progression.
- Tests like FISH and CGH are reserved for cases where the stakes are higher due to potential malignancy.
- Dermatopathologists should acknowledge uncertainty in their diagnoses but maintain confidence in diagnosing benign lesions.
- Dermatologists should raise the threshold for biopsies and ensure adequate clinical information is provided.
- Elmore JG, Barnhill RL, Elder DE, Longton GM, Pepe MS, Reisch LM, Carney PA, Titus LJ, Nelson HD, Onega T, Tosteson ANA, Weinstock MA, Knezevich SR, Piepkorn MW. Pathologists' diagnosis of invasive melanoma and melanocytic proliferations: observer accuracy and reproducibility study. BMJ. 2017 Jun 28;357:j2813. doi: 10.1136/bmj.j2813. Erratum in: BMJ. 2017 Aug 8;358:j3798. PMID: 28659278; PMCID: PMC5485913.
- Bastian BC, Olshen AB, LeBoit PE, Pinkel D. Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol. 2003 Nov;163(5):1765-70. doi: 10.1016/S0002-9440(10)63536-5. PMID: 14578177; PMCID: PMC1892437.
- Mesbah Ardakani N, Thomas C, Robinson C, Mina K, Harvey NT, Amanuel B, Wood BA. Detection of copy number variations in melanocytic lesions utilising array based comparative genomic hybridisation. Pathology. 2017 Apr;49(3):285-291. doi: 10.1016/j.pathol.2016.11.008. Epub 2017 Mar 6. PMID: 28274670.
- Carter MD, Durham AB, Miedema JR, Harms PW, Chan MP, Patel RM, Lowe L, Fullen DR, Hristov AC, Wang M, Andea AA. Molecular testing of borderline cutaneous melanocytic lesions: SNP array is more sensitive and specific than FISH. Hum Pathol. 2019 Apr;86:115-123. doi: 10.1016/j.humpath.2018.12.002. Epub 2018 Dec 18. PMID: 30576704.
- Bahmad HF, Oh KS, Alexis J. Potential diagnostic utility of PRAME and p16 immunohistochemistry in melanocytic nevi and malignant melanoma. J Cutan Pathol. 2023 Aug;50(8):763-772. doi: 10.1111/cup.14438. Epub 2023 Apr 27. PMID: 37114299.
- Uguen A, Talagas M, Costa S, Duigou S, Bouvier S, De Braekeleer M, Marcorelles P. A p16-Ki-67-HMB45 immunohistochemistry scoring system as an ancillary diagnostic tool in the diagnosis of melanoma. Diagn Pathol. 2015 Oct 26;10:195. doi: 10.1186/s13000-015-0431-9. PMID: 26503349; PMCID: PMC4623282.
- Lezcano C, Jungbluth AA, Busam KJ. Immunohistochemistry for PRAME in Dermatopathology. Am J Dermatopathol. 2023 Nov 1;45(11):733-747. doi: 10.1097/DAD.0000000000002440. PMID: 37856737; PMCID: PMC10593485.
- Ko JS, Matharoo-Ball B, Billings SD, Thomson BJ, Tang JY, Sarin KY, Cai E, Kim J, Rock C, Kimbrell HZ, Flake DD 2nd, Warf MB, Nelson J, Davis T, Miller C, Rushton K, Hartman AR, Wenstrup RJ, Clarke LE. Diagnostic Distinction of Malignant Melanoma and Benign Nevi by a Gene Expression Signature and Correlation to Clinical Outcomes. Cancer Epidemiol Biomarkers Prev. 2017 Jul;26(7):1107-1113. doi: 10.1158/1055-9965.EPI-16-0958. Epub 2017 Apr 4. PMID: 28377414.