Mucosal Melanoma of the Head and Neck: From Diagnosis to Treatment

Abstract

Mucosal melanomas of the head and neck are very rare malignancies that present with aggressive behavior and poor prognosis. Usually diagnosed at advanced stages, thus presenting macroscopically as aggressive nodular neoplasms arising from the mucosa; few cases are detected in situ. Tumor staging for mucosal melanoma remains a challenge. Several staging systems have been suggested, including tumornodal-metastases (TNM) staging systems, but none are frequently used. There is no clear consensus on the management of head and neck mucosal melanoma, which reflects the rare nature of the disease and complexity of the anatomic site. The late diagnosis, frequently presenting at an advanced stage, denotes the aggressive nature of the disease. Currently, early detection and surgical excision is considered the primary method of treatment. The multidisciplinary team approach can help reduce morbidity and mortality once optimize treatment, reduce costs and minimize adverse events, while maximizing the chances of recovery.

Cutaneous Malignant Melanoma Metastatic to the Larynx and Trachea: A Case Report and Review of the Literature

“…These tumors may bloom from either stem melanocytes bearing certain cytogenetic variations or form mature melanocytes expressing secondary cytogenetic alterations to external stimuli [6,7]. Melanocyte precursors traverse from the neural crest toward their final stop, passing through the embryonic mesenchyme, across distinct pathways, the majority of them winding up in the skin epidermis and dermis; meanwhile, some may end up in other sites, like the mucosal membranes belonging to the respiratory tract, the gastrointestinal tract or the genitourinary tract [4,6,8]. Of these sites, occurrence in the genitourinary tract is extremely rare, with only a total of 147 cases identified in a recent systematic review [9].…”

“…The presence of S100 protein and reactivity for any one of the foregoing melanocytic markers in a pleomorphic epithelioid or spindle cell neoplasm is almost diagnostic of melanoma [33]. Increased attention is conveyed to the high prevalence of activating mutations within the c-KIT oncogene (CD117), which is encountered in 80% of primary mucosal melanomas, which, on the other hand, have little to no pathogenic relevance in cutaneous melanomas [6,8,34,35]. Mutations in the BRAF gene, encountered in almost 70% of all cutaneous melanomas, were present in fewer than 10% of primary mucosal melanomas [6,8,35,36].…”

“…Increased attention is conveyed to the high prevalence of activating mutations within the c-KIT oncogene (CD117), which is encountered in 80% of primary mucosal melanomas, which, on the other hand, have little to no pathogenic relevance in cutaneous melanomas [6,8,34,35]. Mutations in the BRAF gene, encountered in almost 70% of all cutaneous melanomas, were present in fewer than 10% of primary mucosal melanomas [6,8,35,36]. Among the activating BRAF mutations associated with tumors, the most frequent is V600E.…”

“…Recent studies have shown that V600E is associated with high-risk forms of the disease (early onset, primary damage to the trunk, lack of chronic skin damage, reduced survival), hence the importance of the therapeutic inhibition of the mutant BRAF protein. The mutation predisposes towards an inhibition of apoptosis and an increase in tumor invasiveness; it is identified in approximately 50% of malignant melanoma cases [4,6]. Radiotherapy can also be used for a better locoregional control after surgery, but it does not prevent recurrences at a distant site [23].…”

Report of a recurrent tongue malignant melanoma and review of literature

“…10. 19 According to current German guidelines, a clinical examination is enough for in situ melanoma staging. Head MRI, whole-body imaging like PET-CT, CT, or skeletal scintigraphy combined with LDH and tumor marker S100B are used in advanced stages .…”