 |
MELARIS® Case B
The patient is a woman diagnosed with melanoma at the age of 52. Her family history is significant for a paternal grandfather diagnosed with skin cancer at the age of 72. She didn't know the exact type of skin cancer but thinks it may have been melanoma and reports that her grandfather was a farmer. This patient pursued Comprehensive MELARIS® due to her concern about her family members as well as concerns about developing another melanoma. 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.
- The skin cancer in her grandfather is most likely a basal cell carcinoma due to excessive sun exposure as a farmer.
Medical Management
For patient:
- Given her personal history of melanoma, the patient will continue to have an increased risk of melanoma. The patient should proceed with melanoma screening as recommended by her healthcare providers.
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 melanoma (Conrad et al, 1999, Geller 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
- Conrad N, Leis P, Orengo I, Medrano EE, Hayes TG, Baer S, Rosen T. (1999) Multiple primary melanoma. Dermatol Surg 25(7):576-81.
- 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.
- Stam-Posthuma JJ, van Duinen C, Scheffer E, Vink J, Bergman W (2001) Multiple primary melanomas. J Am Acad Dermatol 44(1):22-7.
« Back to the list of cases
« Back to the MELARIS® Test Results page
|
|
|
