Aggressive Amelanotic Melanoma in a Patient with Oculocutaneous Albinism Type 1A: A Case with Limited Response to Targeted and Immunotherapy

Key Points

• To discuss the unique case of aggressive amelanotic melanoma in a patient with oculocutaneous albinism type 1A and its treatment challenges.
• Case report on the patient's melanoma progression and response to therapies.
• Genetic confirmation of oculocutaneous albinism type 1A.
• RNA-seq analysis to investigate tumor characteristics and immune response.
• Tumor exhibited poor response to both targeted and immune therapies.
• RNA-seq analysis indicated potential link between pigment loss and PD-L1 upregulation.