ABSTRACT
Understanding the metastatic potential of a skin cancer is essential to effective management. Gene expression profiling (GEP) is an innovative technology that has allowed for a better understanding of tumor biology in various skin cancers. Current methods focus on identifying and quantifying ribonucleic acid (RNA) transcripts in tissue samples. Using reverse transcriptase-polymerase chain reaction, specific RNA transcripts are reverted into deoxyribonucleic acid (DNA) for quantification. The addition of RNA-seq has further enhanced our knowledge of genomes not only by measuring known sequences, but also by identifying novel genes in various skin cancers. GEP requires only a small amount of RNA and has a high level of reproducibility. Using this technology, several GEPs for skin cancers have been developed to augment diagnosis and prognosis of skin cancer. This article reviews the process of gene expression profiling and the current GEPs that are available or under investigation for skin cancer. J Drugs Dermatol. 2023;22(5): doi:10.36849/JDD.7017.
Subject(s)
Gene Expression Profiling , Skin Neoplasms , Humans , RNA, Messenger/analysis , RNA, Messenger/genetics , RNA, Messenger/metabolism , Reproducibility of Results , Gene Expression Profiling/methods , RNA/analysis , Skin Neoplasms/diagnosis , Skin Neoplasms/geneticsABSTRACT
Aim: To clinically validate the 40-gene expression profile (40-GEP) test for cutaneous squamous cell carcinoma patients and evaluate coupling the test with individual clinicopathologic risk factor-based assessment methods. Patients & methods: In a 33-site study, primary tumors with known patient outcomes were assessed under clinical testing conditions (n = 420). The 40-GEP results were integrated with clinicopathologic risk factors. Kaplan-Meier and Cox regression analyses were performed for metastasis. Results: The 40-GEP test demonstrated significant prognostic value. Risk classification was improved via integration of 40-GEP results with clinicopathologic risk factor-based assessment, with metastasis rates near the general cutaneous squamous cell carcinoma population for class 1 and ≥50% for class 2B. Conclusion: Combining molecular profiling with clinicopathologic risk factor assessment enhances stratification of cutaneous squamous cell carcinoma patients and may inform decision-making for risk-appropriate management strategies.
Plain language summary Cutaneous squamous cell carcinoma is a common skin cancer, with approximately 2 million cases diagnosed each year in the USA. Because substantial numbers of patients experience metastasis, which can result in death, accurate metastatic risk assessment is important. Clinicians use clinicopathologic factors to determine risk for disease progression. However, traditional methods miss pinpointing many patients who experience metastasis and sometimes categorize patients as at risk who do not develop metastasis, indicating that additional tools are needed. A molecular test, the 40-gene expression profile (40-GEP), was developed to predict metastatic risk based on the biology of the tumor. This study demonstrates that the 40-GEP, either as an independent tool or together with traditional methods, accurately identifies patients' risk of metastasis. Using the 40-GEP could improve patient management to improve patient outcomes.
Subject(s)
Carcinoma, Squamous Cell/genetics , Gene Expression Profiling/methods , Risk Assessment/methods , Skin Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Carcinoma, Squamous Cell/pathology , Humans , Male , Middle Aged , Prognosis , Risk Factors , Skin Neoplasms/pathologyABSTRACT
BACKGROUND. With the advent of effective therapeutics, melanoma mortality rates have decreased, yet incidence rates are continuing to rise, making accurate prognostication for risk of recurrence increasingly important. Gene expression profiling (GEP) is a clinically available, objective metric that can be used in conjunction with traditional clinicopathological staging to help physicians stratify risk in melanoma patients. There is a gap in guidance from the American Joint Committee on Cancer (AJCC) and the National Comprehensive Cancer Network (NCCN) regarding how to utilize GEP in melanoma care. OBJECTIVE. An expert panel of 31-GEP test users sought to provide clarification of use options and a rational clinical workflow to guide appropriate application of the 31- GEP test in everyday practice. METHODS. The authors participated in an in-depth review of the literature and panel discussion regarding current limitations of melanoma risk assessment and opportunities for improvement with GEP. The panel reviewed 1) validation and clinical impact data supporting the use of sentinel lymph node biopsy (SLNB), 2) existing primary data and meta-analyses for 31-GEP testing in melanoma risk assessment, 3) AJCC, NCCN, and Melanoma Prevention Working Group (MPWG) data and guidelines for GEP use in melanoma risk assessment, and 4) experiences, rationales, and scenarios in which 31-GEP testing may be helpful for risk assessment. RESULTS. The 31-GEP test is useful and actionable for patient care when applied in accordance with current NCCN guidelines. Stratification of patients into low (Class 1a), intermediate (Class 1b or 2a), or high (Class 2b) risk categories can inform multidisciplinary conference discussion and can assist with determining the intensity of imaging, surveillance, and follow-up care. Patient-specific features of the disease and individual circumstances should be considered in the decision to use 31-GEP testing. CONCLUSION. The authors suggest a clinical workflow that integrates 31-GEP testing under the umbrella of current national guidelines. Application of the test in appropriate patient populations can improve risk assessment and inform clinical decision-making.
ABSTRACT
We present a 54-year-old Caucasian female with a history of diabetes mellitus, multiple sclerosis, and ulcerative colitis who presented with nail dystrophy, polyarthralgia in her hands and hips, myalgia, proximal myopathy, dactylitis, and psoriasiform-appearing progressive, painful plaques on the dorsal aspect of her hands. Histologic examination of the lesion from the left index finger revealed an interstitial and necrobiotic granulomatous dermatitis with connective tissue mucin deposition associated with a perivascular lymphoid infiltrate. Additionally, there was focal transepidermal elimination of the necrobiotic material. She was diagnosed with perforating granuloma annulare (PGA). We are unaware of any other cases of PGA in the literature with this presentation.
ABSTRACT
Melanoma is usually apparent on the skin and readily detected by trained medical providers using a routine total body skin examination, yet this malignancy is responsible for the majority of skin cancer-related deaths. Currently, there is no national consensus on skin cancer screening in the USA, but dermatologists and primary care providers are routinely confronted with making the decision about when to recommend total body skin examinations and at what interval. The objectives of this paper are: to propose rational, risk-based, data-driven guidelines commensurate with the US Preventive Services Task Force screening guidelines for other disorders; to compare our proposed guidelines to recommendations made by other national and international organizations; and to review the US Preventive Services Task Force's 2016 Draft Recommendation Statement on skin cancer screening.
ABSTRACT
Background: Adequate treatment and follow-up of a patient with nonmelanoma skin cancer is of utmost concern for a clinician. However, there is a lack of international consensus on recommendations for surgical excision margins. Furthermore, lack of familiarity of the published guidelines leads to a variety in practice styles. Objective: To compare the consistency in global recommendations for surgical excision margins for basal cell carcinoma, cutaneous squamous cell carcinoma, dermatofibrosarcoma protuberans, and Merkel cell carcinoma. Methods: A review of the current literature and global guidelines for surgical excision margins for basal cell carcinoma, cutaneous squamous cell carcinoma, dermatofibrosarcoma protuberans, and Merkel cell carcinoma. Results: Upon review of international guidelines, variations do exist among guidelines for peripheral and deep surgical margins. Guideline recommendations were found to be more globally consistent in margin selection for low-risk basal cell carcinoma and low-risk cutaneous squamous cell carcinoma, however, least consistent when concerning margin selection for dermatofibrosarcoma protuberans and Merkel cell carcinoma. Conclusion: Although guidelines exist, there is a need for international collaboration and consensus to determine a more unified and evidence-based approach to surgical excision as a treatment for nonmelanoma skin cancer.
ABSTRACT
BACKGROUND: Nipple adenoma is a very uncommon, benign proliferative process of lactiferous ducts of the nipple. Clinically, it often presents as a palpable nipple nodule, a visible nipple skin erosive lesion, and/or with discharge from the surface of the nipple skin, and is primarily seen in middle-aged women. Resultantly, nipple adenoma can clinically mimic the presentation of mammary Paget's disease of the nipple. The purpose of our current case report is to present a comprehensive review of the available data on nipple adenoma, as well as provide useful information to health care providers (including dermatologists, breast health specialists, and other health care providers) who evaluate patients with dermatologic conditions of the breast skin for appropriately clinically recognizing, diagnosing, and treating patients with nipple adenoma. CASE PRESENTATION: Fifty-three year old Caucasian female presented with a one year history of erythema and induration of the skin of the inferior aspect of the right nipple/areolar region. Skin punch biopsies showed subareolar duct papillomatosis. The patient elected to undergo complete surgical excision with right central breast resection. Final histopathologic evaluation confirmed nipple adenoma. The patient is doing well 31 months after her definitive surgical therapy. CONCLUSIONS: Since nipple adenoma represents a benign proliferative process of the nipple, complete surgical excision is curative. However, the coexistence of nipple adenoma and ipsilateral or contralateral breast cancer is well reported in the literature. The potential for a direct causal link or association of nipple adenoma and breast cancer cannot be fully excluded.
Subject(s)
Adenoma/pathology , Breast Neoplasms/pathology , Erythema/pathology , Nipples/pathology , Female , Humans , Middle AgedSubject(s)
Adenocarcinoma/therapy , Antineoplastic Agents, Phytogenic/adverse effects , Ovarian Neoplasms/therapy , Paclitaxel/adverse effects , Scleroderma, Systemic/chemically induced , Adenocarcinoma/pathology , Antineoplastic Agents, Phytogenic/administration & dosage , Antineoplastic Combined Chemotherapy Protocols , Biopsy, Needle , Carboplatin/administration & dosage , Chemotherapy, Adjuvant , Drug Therapy, Combination , Esophageal Motility Disorders/chemically induced , Esophageal Motility Disorders/drug therapy , Esophageal Motility Disorders/pathology , Female , Humans , Immunohistochemistry , Middle Aged , Myositis/chemically induced , Myositis/drug therapy , Myositis/pathology , Neoplasm Invasiveness/pathology , Neoplasm Staging , Ovarian Neoplasms/pathology , Ovariectomy/methods , Paclitaxel/administration & dosage , Prognosis , Raynaud Disease/chemically induced , Raynaud Disease/drug therapy , Raynaud Disease/pathology , Risk Assessment , Scleroderma, Systemic/pathology , Treatment OutcomeABSTRACT
This review discusses multiple cutaneous malignancies that can present on the perineum. Although all of these neoplasms are uncommon, a focus will be on the more common neoplasms including extramammary Paget disease, basal cell carcinoma, squamous cell carcinoma, and melanoma. Other more rare entities discussed are superficial leiomyosarcoma, giant solitary trichoepithelioma, and cutaneous endometriosis.
Subject(s)
Carcinoma, Basal Cell/diagnosis , Carcinoma, Squamous Cell/diagnosis , Leiomyosarcoma/diagnosis , Melanoma/diagnosis , Paget Disease, Extramammary/diagnosis , Perineum/pathology , Skin Neoplasms/diagnosis , Carcinoma, Basal Cell/epidemiology , Carcinoma, Basal Cell/therapy , Carcinoma, Squamous Cell/epidemiology , Carcinoma, Squamous Cell/therapy , Endometriosis/diagnosis , Endometriosis/epidemiology , Endometriosis/therapy , Female , Humans , Leiomyosarcoma/epidemiology , Leiomyosarcoma/therapy , Melanoma/epidemiology , Melanoma/therapy , Paget Disease, Extramammary/epidemiology , Paget Disease, Extramammary/therapy , Skin Diseases/diagnosis , Skin Diseases/epidemiology , Skin Diseases/therapy , Skin Neoplasms/epidemiology , Skin Neoplasms/therapyABSTRACT
IMPORTANCE: As medical school curricula become progressively integrated, a need exists to optimize education related to the skin cancer examination (SCE) for melanoma, a relevant competency gap that influences secondary prevention efforts. OBJECTIVES: To identify curricular factors associated with medical students' confidence, intent, and performance regarding the SCE. DESIGN, SETTING, AND PARTICIPANTS: Survey-based cross-sectional study from the Integrated Skin Exam Consortium at accredited US medical schools among a volunteer sample of second-year students representing 8 geographically varied public and private institutions. Students were administered a questionnaire to assess characteristics, curricular exposures, and educational and practical experiences related to skin cancer, as well as knowledge of melanoma risk and a detection method. MAIN OUTCOMES AND MEASURES: Primary outcomes were confidence in performing the SCE, intent to perform an integrated skin examination, and actual performance of the SCE. RESULTS: Physical diagnosis session and clinical encounter were most predictive of confidence in performance of the SCE (odds ratios [ORs], 15.35 and 11.48, respectively). Other curricular factors associated with confidence included instruction time of at least 60 minutes on skin cancer (OR, 6.35), lecture on the SCE (OR, 7.54), knowledge of melanoma risk (OR, 3.71), and at least 1 opportunity to observe the SCE (OR, 2.70). Physical diagnosis session and at least 4 opportunities to observe the SCE were most predictive of intent to perform an integrated skin examination (ORs, 4.84 and 4.72, respectively). Other curricular factors associated with intent included knowledge of melanoma risk (OR, 1.83), clinical encounter (OR, 2.39), and at least 1 opportunity to observe the SCE (OR, 1.95). Clinical encounter, physical diagnosis session, and at least 1 opportunity to observe the SCE were most predictive of performance of the SCE (ORs, 21.67, 15.48, and 9.92, respectively). Other curricular factors associated with performance included instruction time of at least 60 minutes on skin cancer (OR, 2.42) and lecture on the SCE (OR, 5.04). CONCLUSIONS AND RELEVANCE: To augment the practice of the SCE among medical students, course directors may design an integrated curriculum that includes at least 60 minutes of instruction related to melanoma and the SCE, a description of the integrated skin examination as part of the physical diagnosis course, and education on high-risk demographic groups and anatomic sites specific to men and women and on the ABCDEs of melanoma, and at least 1 opportunity to observe the SCE.
Subject(s)
Dermatology/education , Melanoma/diagnosis , Skin Neoplasms/diagnosis , Students, Medical/psychology , Cross-Sectional Studies , Female , Health Knowledge, Attitudes, Practice , Humans , Intention , Male , Physical Examination , Schools, Medical , Self Efficacy , Task Performance and Analysis , Time Factors , United StatesABSTRACT
Studies indicate that with training, nonmedical health professionals may be able to successfully recognize lesions suspicious for skin cancer and thereby assist with early detection of suspicious lesions. We present the results of a study aimed at assessing the efficacy of a 4-h continuing education program designed to educate massage therapists about skin cancer detection and prevention. Prior to and after the administration of the course, surveys were administered to attendees to gauge their ability to identify skin cancer and their comfort level with counseling clients with suspicious lesions. Our study suggests that while many massage therapists are educated on skin cancer and have experience referring patients for suspicious lesions, a 4-h educational session may not be sufficient to improve sensitivity of detection.
Subject(s)
Clinical Competence/standards , Health Education , Health Personnel/education , Massage , Physical Therapy Specialty , Skin Neoplasms/diagnosis , Adolescent , Adult , Aged , Carcinoma, Basal Cell/diagnosis , Carcinoma, Basal Cell/prevention & control , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/prevention & control , Delivery of Health Care , Early Diagnosis , Female , Health Knowledge, Attitudes, Practice , Health Personnel/psychology , Humans , Male , Middle Aged , Skin Neoplasms/prevention & control , Surveys and Questionnaires , Young AdultABSTRACT
BACKGROUND: Knowledge of the skin cancer examination (SCE) and its practice remain relevant competency gaps among medical students. OBJECTIVE: We elaborate on a method of SCE known as the Integrated Skin Exam and discuss the development of an instructional film that illustrates its principles. We assess the tool's effect on knowledge, attitudes, and perceptions related to the SCE. METHODS: Second-year students among 8 randomized schools viewed the film and completed pre-post questionnaires. RESULTS: After viewing The Integrated Skin Exam film, students demonstrated improved melanoma knowledge, including identification of high-risk demographic groups (61% vs 42.9%, P < .001), high-risk anatomic sites in women (88.6% vs 46.5%, P < .001) and men (92.1% vs 34.8%, P < .001), and the ABCDEs of melanoma (98.4% vs 91.2%, P < .001). Students demonstrated increased confidence in the SCE (66.93% vs 16.40%, P < .001) and augmented intentions to practice it (99.05% vs 13.9%, P < .001). A greater proportion (70.4% vs 41.9%, P < .001) of students thought less than 3 minutes were required to integrate SCE into the routine examination. LIMITATIONS: Longitudinal impact of the film was not assessed. CONCLUSION: The Integrated Skin Exam film introduces an integrated approach to the SCE that addresses knowledge gaps, mitigates perceived barriers, and augments intention related to practice of the SCE.
Subject(s)
Dermatology/education , Early Detection of Cancer/methods , Education, Medical , Melanoma/diagnosis , Motion Pictures , Skin Neoplasms/diagnosis , Attitude of Health Personnel , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Self Efficacy , Students, Medical/psychologyABSTRACT
Early detection of a melanoma recurrence is a major concern for the clinician. However, the follow-up care of melanoma patients lacks a uniform approach. Different dermatological and oncological organizations have developed their own strategies of follow-up management that vary by specialty and methods of screening for recurrence. Some areas of controversy in the follow-up care of melanoma patients include providers of care, use of staging versus Breslow depth to determine follow-up, the role of imaging and laboratory tests, frequency and duration of physical exams, and psychological well-being. Studies have evaluated these aspects of follow-up management, but no consensus exists. However, it is essential for clinicians to collaborate between specialties for an effective, evidence-based approach to melanoma clinical follow-up care.