Familial atypical multiple mole melanoma syndrome

Alternate names

B-K mole syndrome; FAMM-PC syndrome; FAMMM syndrome; Familial atypical multiple mole melanoma-pancreatic carcinoma; Familial Clark nevus syndrome; Familial atypical mole syndrome; Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; Familial dysplastic nevus syndrome; Melanoma-pancreatic cancer syndrome; Familial Atypical Mole Melanoma Syndrome

Definition

(fuh-MIH-lee-ul AY-TIH-pih-kul MUL-tih-pul ... MEH-luh-NOH-muh SIN-drome) An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. Familial atypical multiple mole melanoma syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer. Also called FAMMM syndrome.

Cause

• FAMMM syndrome may be caused by mutations in the CDKN2A gene (in about 40% of cases) or CDK4 gene (in very rare cases).
• However, in about 60% of cases, the cause is unknown.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is autosomal dominant.

Signs and symptoms

FAMMM syndrome is marked by:

• one or more 1st or 2nd degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma;
• many moles, some of which are atypical (asymmetrical, raised, or different shades of color) and often of different sizes; and
• moles that have specific features when examined under a microscope.

Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma. They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple family members are affected. FAMMM syndrome may also increase the risk of pancreatic cancer in addition to melanoma.

Diagnosis

• The clinical and histopathologic characteristics of melanoma in FAMMM kindreds are not significantly different from those seen in sporadic cases of melanoma and, thus, are not useful in diagnosing the syndrome.
• Currently, most pigmented nevi are evaluated for melanoma on the basis of the subjective ABCDE characteristics of the nevus, referring to asymmetric shape, border irregularity, color variegation, diameter greater than 6 mm, and elevation or evolution .
• Other, more objective methods of evaluation have been employed to reduce diagnostic errors, including dermatoscopy, photography, digital dermatoscopy, and computer image analysis.[1].

Treatment

• Treatment for FAMMM syndrome typically involves surgery.
• Family members of people with this condition should have surveillance at periodic intervals for melanoma.

NIH genetic and rare disease info

• NIH info on Familial atypical multiple mole melanoma syndrome

Familial atypical multiple mole melanoma syndrome is a rare disease.

Familial atypical multiple mole melanoma syndrome Resources
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