Concurrent and mutations in melanoma of unknown origin presenting as a breast mass

Concurrent and mutations in melanoma of unknown origin presenting as a breast mass

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Background: Metastases represent a small percentage of the malignancies affecting the breast, and only 5% of melanomas originate from non-cutaneous sites.Multiple genetic aberrations have been associated with the development of melanocytic lesions, including BRAF V600E mutation.Mutations in PTEN gene have also been related to the pathogenesis of multiple malignancies.Purpose/Method: This is the case of a 28-year-old female who presented with a tender, palpable mass in the upper outer quadrant of the right breast.Ultrasound showed a 1-cm solid mass, initially diagnosed as invasive ductal carcinoma on biopsy.

During pre-operative workup, a second mass Airbrush was identified and biopsied.Immunohistochemical stains performed on the second mass biopsy demonstrated that the neoplastic cells were positive for cytokeratin AE1/3, pan-melanoma, tyrosinase, and SOX-10 and negative for CK7, CAM5.2, and GATA-3.Subsequent workup showed widespread metastatic disease involving the liver, lungs, bones, and brain.The brain metastasis tested positive for BRAF p.

V600E and PTEN p.R130Efs*4 mutations.Thorough skin and eye examination did not reveal a primary melanoma.Conclusion: Only few reports have been published of F F NIACIN melanoma presenting as a breast mass.This is an interesting case due to the clinical presentation, diagnostic challenges, and genetic mutations profile.