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MELARIS® Case A

The patient is a woman diagnosed with melanoma at the age of 53 and again at 66. She has no family history of melanoma or pancreatic cancer. This patient pursued Comprehensive MELARIS® due to her diagnosis of two separate primary melanomas. However, no mutation was detected by genetic testing.

Genetic Evaluation

  • Based on the no mutation detected result for Comprehensive MELARIS®, the likelihood that this patient has hereditary melanoma has been reduced. The negative result leaves us without an explanation for the patient's diagnosis of melanoma, and her medical management must be based on her clinical history.
  • The patient does not have a strong family history of melanoma or pancreatic cancer, which leads to a low suspicion of an undetectable p16 mutation.

Medical Management

For patient:

  • Given her personal history of melanoma, the patient will continue to have an increased risk of melanoma.

With regard to at-risk relatives:

  • Since no mutation was detected in p16, her relatives are still at increased risk of melanoma due to the patient's diagnosis of two separate primary melanomas, with first-degree relatives at the highest risk (Geller et al, 2003; Hemminki et al, 2001; Hemminki et al, 2003; Stam-Posthuma et al, 2001).
  • The patient's relatives should talk with their healthcare providers about the family history of melanoma and recommendations for screening and prevention.
  • Genetic testing would not be recommended for this patient's relatives, since no mutation was detected in her.

References

  1. Geller AC, Emmons K, Brooks DR, Zhang Z, Powers C, Koh HK, Sober AJ, Miller DR, Li F, Haluska F, Gilchrest BA (2003) Skin cancer prevention and detection practices among siblings of patients with melanoma. J Am Acad Dermatol 49(4):631-8.
  2. Hemminki K, Lonnstedt I, Vaittinen P (2001) A population-based study of familial cutaneous melanoma. Melanoma Res 11(2):133-40.
  3. Hemminki K, Zhang H, Czene K (2003) Familial and attributable risks in cutaneous melanoma: effects of proband and age . J Invest Dermatol 120(2):217-23.
  4. Stam-Posthuma JJ, van Duinen C, Scheffer E, Vink J, Bergman W (2001) Multiple primary melanomas. J Am Acad Dermatol 44(1):22-7.

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