Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment

Abstract

Primary central nervous system (CNS) melanoma is an extremely rare condition, with an incidence rate of 0.01 per 100,000 individuals per year. Despite its rarity, the etiology and pathogenesis of this disease are not yet fully understood. Primary CNS melanoma exhibits highly aggressive biological behavior and presents clinically in a distinct manner from other types of melanomas. It can develop at any age, predominantly affecting the meninges as the primary site, with clinical symptoms varying depending on the neoplasm’s location. Due to the lack of specificity in its presentation and the challenging nature of imaging diagnosis, distinguishing primary CNS melanoma from other CNS diseases. The combination of challenges in early detection, heightened tumor aggressiveness, and the obscured location of its origin contribute to an unfavorable prognostic outcome. Furthermore, there has been currently no consensus on a standardized treatment approach for primary CNS melanoma. Despite recent advancements in targeted therapy and immunotherapy for CNS melanoma, patients with primary CNS melanoma have limited treatment options due to their inadequate response to these therapies. Here, we provided a comprehensive summary of the epidemiology, clinical features, molecular pathological manifestations, and available diagnostic and therapeutic approaches of primary CNS melanoma. Additionally, we proposed potential therapeutic strategies for it.

Malignant Melanoma: An Overview, New Perspectives, and Vitamin D Signaling

“…The most prevalent types of melanomas include cutaneous malignant melanomas which affect large segments of the population with high incidence and mortality rates compared to other cancers [ 2 , 6 , 11 , 15 , 16 , 17 , 18 , 19 ]. However, melanomas also originate from melanocytes of the eye and mucosa (including oral, anorectal, and genitourinary melanomas) with very rare melanomas arising from other organs including the central nervous system (CNS) [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ]. According to the recent World Health Organization (WHO) classification, melanomas are subdivided etiologically into those related to sun exposure and those that are not, with the former stratified according to cumulative solar damage (CSD) of the skin into low- and high-CSD melanomas [ 2 , 21 , 30 ].…”

“…According to the recent World Health Organization (WHO) classification, melanomas are subdivided etiologically into those related to sun exposure and those that are not, with the former stratified according to cumulative solar damage (CSD) of the skin into low- and high-CSD melanomas [ 2 , 21 , 30 ]. Melanomas of which the etiology is predominantly unrelated to sun exposure include mucosal, acral, uveal and Spitzoid melanomas, melanomas arising in blue or congenital nevi, and rare melanomas arising in the CNS [ 7 , 21 , 25 , 27 , 31 , 32 , 33 , 34 , 35 ]. In this review, we will focus on melanomas related to sun exposure, including melanomas with low CSD, such as superficial spreading type and nodular melanomas, and with high CSD, such as the lentigo maligna type and desmoplastic melanomas [ 21 , 30 , 36 , 37 ].…”