Book contents
- Immunohistochemistry and Ancillary Studies in Diagnostic Dermatopathology
- Immunohistochemistry and Ancillary Studies in Diagnostic Dermatopathology
- Copyright page
- Dedication
- Contents
- Contributors
- Preface and Acknowledgments
- Chapter 1 Introduction to Immunohistochemistry
- Chapter 2 Molecular Studies
- Chapter 3 Epithelial or Squamous Neoplasms
- Chapter 4 Neoplasms of Cutaneous Appendages
- Chapter 5 Inflammatory Dermatoses Mimicking Lymphomas
- Chapter 6 Cutaneous Lymphoid Neoplasms
- Chapter 7 Melanocytic Neoplasms
- Chapter 8 Soft Tissue Neoplasms
- Chapter 9 Miscellaneous Tumors
- Chapter 10 Detection of Genetic Syndromes
- Chapter 11 Immunobullous Disorders
- Chapter 12 Cutaneous Infections
- Index
- References
Chapter 2 - Molecular Studies
Published online by Cambridge University Press: 17 June 2025
Edited by
Book contents
- Immunohistochemistry and Ancillary Studies in Diagnostic Dermatopathology
- Immunohistochemistry and Ancillary Studies in Diagnostic Dermatopathology
- Copyright page
- Dedication
- Contents
- Contributors
- Preface and Acknowledgments
- Chapter 1 Introduction to Immunohistochemistry
- Chapter 2 Molecular Studies
- Chapter 3 Epithelial or Squamous Neoplasms
- Chapter 4 Neoplasms of Cutaneous Appendages
- Chapter 5 Inflammatory Dermatoses Mimicking Lymphomas
- Chapter 6 Cutaneous Lymphoid Neoplasms
- Chapter 7 Melanocytic Neoplasms
- Chapter 8 Soft Tissue Neoplasms
- Chapter 9 Miscellaneous Tumors
- Chapter 10 Detection of Genetic Syndromes
- Chapter 11 Immunobullous Disorders
- Chapter 12 Cutaneous Infections
- Index
- References
Summary
Recent advances in molecular techniques such as targeted next-generation sequencing analyses, fusion assays, comparative genomic hybridization, and fluorescence in-situ hybridization have facilitated accurate tumor diagnosis. T- and B-cell clonality studies are essential in diagnosing lymphoproliferative disorders. This chapter will describe these molecular techniques and how they can serve as ancillary tests.
Information
- Type
- Chapter
- Information
- Publisher: Cambridge University PressPrint publication year: 2025
References
Hosler, GA, Murphy, KM. Molecular Diagnostics for Dermatology: Practical Applications of Molecular Testing for the Diagnosis and Management of the Dermatology Patient. Berlin, Heidelberg: Springer Berlin Heidelberg; 2014. Available from: http://link.springer.com/10.1007/978-3-642-54066-0CrossRefGoogle Scholar
Hosler, GA, Murphy, KM. Ancillary testing for melanoma: current trends and practical considerations. Hum Pathol 2023; 140: 5–21.CrossRefGoogle ScholarPubMed
Fung, MA, Vidal, CI, Armbrecht, EA, et al. Appropriate use criteria for ancillary diagnostic testing in dermatopathology: New recommendations for 11 tests and 220 clinical scenarios from the American Society of Dermatopathology Appropriate Use Criteria Committee. J Cutan Pathol 2021; 49: 231–45.Google ScholarPubMed
Vidal, CI, Armbrect, EA, Andea, AA, et al. Appropriate use criteria in dermatopathology: Initial recommendations from the American Society of Dermatopathology. J Cutan Pathol 2018; 45: 563–80.CrossRefGoogle ScholarPubMed
Mirghani, H, Casiraghi, O, Amen, F, et al. Diagnosis of HPV-driven head and neck cancer with a single test in routine clinical practice. Mod Pathol 2015; 28: 1518–27.CrossRefGoogle ScholarPubMed
Mendez-Pena, JE, Sadow, PM, Nose, V, Hoang, MP. RNA chromogenic in situ hybridization assay with clinical automated platform is a sensitive method in detecting high-risk human papillomavirus in squamous cell carcinoma. Hum Pathol 2017; 63: 184–9.CrossRefGoogle ScholarPubMed
Rezk, SA, Zhao, X, Weiss, LM. Epstein-Barr virus (EBV)-associated lymphoid proliferations, a 2018 update. Hum Pathol 2018; 79: 18–41.CrossRefGoogle ScholarPubMed
Poling, JS, Yonescu, R, Subhawong, AP, Sharma, R, Argani, P, Ning, Y, Cimino-Mathews, A. MYB labeling by immunohistochemistry is more sensitive and specific for breast adenoid cystic carcinoma than MYB Labeling by FISH. Am J Surg Pathol 2017; 41: 973–9.CrossRefGoogle ScholarPubMed
Gerami, P, Jewell, SS, Morrison, LE, et al. Fluorescence in situ hybridization (FISH) as an ancillary diagnostic tool in the diagnosis of melanoma. Am J Surg Pathol 2009; 33: 1146–56.CrossRefGoogle Scholar
Bastian, BC, Olshen, AB, LeBoit, PE, Pinkel, D. Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol 2003; 163: 1765–70.CrossRefGoogle ScholarPubMed
Gerami, P, Cook, RW, Wilkinson, J, et al. Development of a prognostic genetic signature to predict the metastatic risk associated with cutaneous melanoma. Clin Cancer Res 2015; 21: 175–83.CrossRefGoogle ScholarPubMed
Clarke, LE, Warf, MB, Flake, DD 2nd, et al. Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma. J Cutan Pathol 2015; 42: 244–52.CrossRefGoogle ScholarPubMed
Onken, MD, Worley, LA, Char, DH, et al. Collaborative Ocular Oncology Group report number 1: prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology 2012; 119: 1596–603.CrossRefGoogle ScholarPubMed
Huey, RW, Shah, AT, Reddi, HV, et al. Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study. J Natl Cancer Inst 2023; 115: 994–7.CrossRefGoogle ScholarPubMed
Heerfordt, IM, Philipsen, PA, Andersen, JD, et al. RNA analysis of tape strips to rule out melanoma in lesions clinically assessed as cutaneous malignant melanoma: a diagnostic study. J Am Acad Dermatol 2023; 89: 537–43.CrossRefGoogle ScholarPubMed
Gerami, P, Alsobrook, JP 2nd, Palmer, TJ, Robin, HS. Development of a novel noninvasive adhesive patch test for the evaluation of pigmented lesions of the skin. J Am Acad Dermatol 2014; 71: 237–44.CrossRefGoogle ScholarPubMed
He, H, Bissonnette, R, Wu, J, et al. Tape strips detect distinct immune and barrier profiles in atopic dermatitis and psoriasis. J Allergy Clin Immunol 2021; 147: 199–212.CrossRefGoogle ScholarPubMed
Zarabi, SK, Azzato, EM, Tu, ZJ, et al. Targeted next generation sequencing (NGS) to classify melanocytic neoplasms. J Cutan Pathol 2020; 47: 691–704.CrossRefGoogle ScholarPubMed
Roth, A, Lampley, N 3rd, Boutko, A, et al. Next-generation sequencing improves agreement and accuracy in the diagnosis of Spitz and spitzoid melanocytic lesions. J Cutan Pathol 2022; 49: 868–74.CrossRefGoogle ScholarPubMed
Roth, A, Boutko, A, Lampley, N 3rd, et al. Next-generation sequencing as a potential diagnostic adjunct in distinguishing between desmoplastic melanocytic neoplasms. Am J Surg Pathol 2023; 47: 318–25.CrossRefGoogle ScholarPubMed
Burtrum, B, Kim, S, Dudley, E, et al. TCR gene recombination and alpha beta-gamma delta lineage divergence: productive TCR-beta rearrangement is neither exclusive nor preclusive of gamma/delta cell development. J Immunol 1996; 157: 4293–6.CrossRefGoogle ScholarPubMed
Krangel, MS. Mechanics of T cell receptor gene rearrangement. Curr Opin Immunol 2009; 21: 133–9.CrossRefGoogle ScholarPubMed
Davis, MM. The evolutionary and structural “logic” of antigen receptor diversity. Semin Immunol 2004; 16: 239–43.CrossRefGoogle ScholarPubMed
Blom, B, Verschuren, MC, Heemskerk, MH, et al. TCR gene rearrangements and expression of the pre-T cell receptor complex during human T-cell differentiation. Blood 1999; 93: 3033–43.CrossRefGoogle ScholarPubMed
Langerak, AW, Groenen, PJ, Bruggemann, M, et al. EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations. Leukemia 2012; 26: 2159–71.CrossRefGoogle ScholarPubMed
Sufficool, KE, Lockwood, CM, Abel, HJ, et al. T-cell clonality assessment by next-generation sequencing improves detection sensitivity in mycosis fungoides. J Am Acad Dermatol 2015; 73: 228–36.CrossRefGoogle ScholarPubMed
Arcila, ME, Yu, W, Syed, M, et al. Establishment of immunoglobulin heavy (IGH) chain clonality testing by next-generation sequencing for routine characterization of B-cell and plasma cell neoplasms. J Mol Diagn 2019; 21: 330–42.CrossRefGoogle ScholarPubMed
Thurber, SE, Zhang, B, Kim, YH, et al. T-cell clonality analysis in biopsy specimens from two different skin sites shows high specificity in the diagnosis of patients with suggested mycosis fungoides. J Am Acad Dermatol 2007; 57: 782–90.CrossRefGoogle ScholarPubMed
Kandolf Sekulovic, L, Cikota, B, Stojadinovic, O, et al. TCRgamma gene rearrangement analysis in skin samples and peripheral blood of mycosis fungoides patients. Acta Dermatovenerol Alp Pannonica Adriat 2007; 16: 149–55.Google ScholarPubMed
Lukowsky, A, Muche, JM, Sterry, W, Audring, H. Detection of expanded T cell clones in skin biopsy samples of patients with lichen sclerosus et atrophicus by T cell receptor-gamma polymerase chain reaction assays. J Invest Dermatol 2000; 115: 254–9.CrossRefGoogle Scholar
Boer, A, Tirumalae, R, Bresch, M, Falk, TM. Pseudoclonality in cutaneous pseudolymphomas: a pitfall in interpretation of rearrangement studies. Br J Dermatol 2008; 159: 394–402.CrossRefGoogle ScholarPubMed
Schachter, O, Tabibian-Keissar, H, Debby, A, Segal, O, Baum, S, Barzilai, A. Evaluation of the polymerase chain reaction-based T-cell receptor β clonality test in the diagnosis of early mycosis fungoides. J Am Acad Dermatol 2020; 83: 1400–05.CrossRefGoogle ScholarPubMed
Stewart, JP, Gazdova, J, Darzentas, N, et al.; EuroClonality-NGS Working Group. Validation of the EuroClonality-NGS DNA capture panel as an integrated genomic tool for lymphoproliferative disorders. Blood Adv 2021; 5: 3188–98.Google Scholar
Jungbluth, AA, Frosina, D, Fayad, M, et al. Immunohistochemical detection of γδ T lymphocytes in formalin-fixed paraffin-embedded tissues. Appl Immunohistochem Mol Morphol 2019; 27: 581–3.CrossRefGoogle ScholarPubMed
Waldron, D, O’Brien, D, Smyth, L, Quinn, F, Vandenberghe, E. Reliable detection of T-cell clonality by flow cytometry in mature T-cell neoplasms using TRBC1: implementation as a reflex test and comparison with PCR-based clonality testing. Lab Med 2022; 53: 417–25.CrossRefGoogle ScholarPubMed
Li, Z, Liu, P, Wang, Z, et al. Prevalence of human papillomavirus DNA and p16INK4a positivity in vulvar cancer and vulvar intraepithelial neoplasia: a systematic review and meta-analysis. Lancet Oncol 2023; 24: 403–14.CrossRefGoogle ScholarPubMed
Sekulic, A, Migden, MR, Oro, AE, et al. Efficacy and safety of vismodegib in advanced basal cell carcinoma. N Engl J Med 2012; 366: 2171–9.CrossRefGoogle ScholarPubMed
Chen, L, Aria, AB, Silapunt, S, Lee, HH, Migden, MR. Treatment of advanced basal cell carcinoma with sonidegib: perspective from the 30-month update of the BOLT trial. Future Oncol 2018; 14: 515–25.CrossRefGoogle ScholarPubMed
Carter, JM, Weiss, SW, Linos, K, DiCaudo, DJ, Folpe, AL. Superficial CD34-positive fibroblastic tumor: report of 18 cases of a distinctive low-grade mesenchymal neoplasm of intermediate (borderline) malignancy. Mod Pathol 2014; 27: 294–302.CrossRefGoogle ScholarPubMed
Lee, PH, Huang, SC, Wu, PS, et al. Molecular characterization of dermatofibrosarcoma protuberans: the clinicopathologic significance of uncommon fusion gene rearrangements and their diagnostic importance in the exclusively subcutaneous and circumscribed lesions. Am J Surg Pathol 2022; 46: 942–55.CrossRefGoogle ScholarPubMed
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