Prevalence and Clinical Associations of CDKN2A Mutations in a Cohort of Childhood, Adolescent, and Young Adult (CAYA) Melanoma Patients

A 56-year-old patient presented with a painless lesion on the left shoulder, described as an erythematous nodule with a rounded shape, clear borders, smooth edges and shiny surface.This lesion had been present approximately six months and was subjectively asymptomatic.It measured 1.5x1.5 cm, elevated above the level of healthy skin, with single serous crusts, without ulceration.Non-pigmented melanoma on left shoulder Dermatoscopy revealed a polymorphic vascular network (vessels of different diameters and shapes, chaotically arranged within the lesion): punctate, glomerular, and linear vessels.Absence of a characteristic pigment pattern and crystalline structures, arranged at right angles to each other, were observed on a white-pink background. DermatoscopyAn excisional biopsy was performed due to a clinical suspicion of melanoma.Histological examination confirmed the diagnosis of nodular melanoma (4 Nx LVIO PnO R0)(ICD-0 code 8721/3), Breslow thickness -4.1 mm, mitotic index -7/mm.After confirming the diagnosis, the patient was informed of the need for further treatment, including wide excision and sentinel lymph node biopsy with subsequent pathomorphological examination.However, the patient refused further treatment.Continuous discussions with the patient about the necessity of treatment are ongoing.Conclusions: Non-pigmented melanoma closely resembles various dermatological conditions, both benign and malignant.Diagnosing non-pigmented melanoma can be particularly challenging due to the absence of pigmentation and typical melanoma features, potentially leading to incorrect treatment strategies.Dermatoscopy is sufficiently informative for establishing an accurate preliminary diagnosis.Early diagnosis and a multidisciplinary approach are crucial for successful treatment and improving patient prognosis.Conversely, late diagnosis of non-pigmented melanoma is associated with a high risk of metastasis and poor outcomes.