ABSTRACT
Malignant melanoma has high morbidity and mortality rates if left untreated. It is the sixth most common cancer and accounts for greater than 47,000 deaths annually worldwide [1]. Melanoma can be sporadic or hereditary, with about 7%–15% patients diagnosed with melanoma having a positive family history [1]. While many family members share melanoma history due to similar level of sun exposure, hereditary mutations and familial syndromes also play an important role. One such syndrome is familial atypical multiple mole melanoma syndrome (FAMMM), which is characterized by multiple atypical nevi (usually greater than 50) with characteristic histological features, and a history of cutaneous melanoma in at least one first- or second-degree family member (Figure 39.1a). Approximately 40% of patients with FAMMM syndrome have a mutation in the gene CDKN2A, which is passed in an autosomal dominant fashion with variable penetrance and expressivity. Patients with FAMMM also have an increased risk for other systemic cancers, especially pancreatic cancer (PC) (Figure 39.1d).
