%0 Journal Article
%T Melanoma of the Breast With Smoothened (SMO) Mutation: Case Report and Review of the Literature - Melanoma of the Breast With Smoothened (SMO) Mutation: Case Report and Review of the Literature - Open Access Pub
%A Ashraf Khan
%A Connie Lee
%A Dina Kandil
%A Jennifer L. Clark
%A Lloyd Hutchinson
%J OAP | Home | Journal of Cancer Genetics And Biomarkers | Open Access Pub
%D 2017
%X We report the case of a 75 year-old female with past history of ampullary adenocarcinoma presenting with a rapidly enlarging breast mass, initially misclassified on fine needle aspiration as a probable sarcoma, which was ultimately diagnosed as melanoma on resection in the absence of a known cutaneous primary lesion. Next-generation sequencing (NGS) of the tumor revealed a mutation in the Smoothened oncogene (SMO) of unknown significance and wild-type BRAF. To our knowledge, SMO mutation in melanoma of any site has not been previously reported, though the effectiveness of SMO inhibitors has been studied in both in vivo and in vitro models of melanoma. Currently, these inhibitors have not been studied in SMO mutant melanoma. The patient declined further therapy after resection due to multiple comorbidities. She expired two years after presenting with the breast mass from complications of high grade urothelial carcinoma. DOI10.14302/issn.2572-3030.jcgb-19-2581 Melanoma is one of the most common non-hematologic metastatic tumors to the breast, second only to lung carcinoma1, 2, 3. However, the debate regarding the possibility of primary melanoma of the breast in the absence of a primary cutaneous lesion at another site is ongoing and remains controversial4,5. In general, particularly in the absence of continuous involvement with the skin or nipple, melanomas of the breast are thought to represent distant metastases in the majority of cases even when no primary lesion can be identified4. This debatable assumption has presented some difficulty in the surgical, chemotherapeutic, and radiotherapeutic management of these patients. The diagnosis of melanoma in the breast is frequently difficult. Epithelioid melanomas may be mischaracterized as triple negative ductal carcinoma based on routine immunohistochemistry4. As in the present case, a melanoma with spindle cell features might be mistaken for a high grade sarcoma based on absent cytokeratin expression4. Several case studies have reinforced the importance of considering this diagnosis on biopsy and/or cytology specimens when there is absent expression of cytokeratin and hormone receptors4, 6, 7, 8. The role of molecular and genetic studies in the diagnosis and management of melanoma in the breast has not been well studied. We report the case of a breast melanoma in a patient with no identifiable primary cutaneous lesion and unexpected molecular findings. We report the case of a breast melanoma in a 75-year-old woman with a cancer history significant for ampullary adenocarcinoma for which she underwent
%U https://www.openaccesspub.org/jcgb/article/1008