Metastatic Malignant Melanoma With Occult Primary Presenting as Breast Mass: A Case Report and Literature Review

Harsten, Rebecca; FISHER, Rebecca J.; Alsanjari, Nazar; Idaewor, Philip; Al‐Zawi, Abdalla Saad Abdalla

doi:10.7759/cureus.15886

Cited by 1 publication

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References 12 publications

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“…Despite the breast harbouring malignant lesions from remote sites, primary breast cancer is the most common cancer in women worldwide. According to GLOBOCAN data, it accounted for 25.4% of the total number of new cases of all cancers diagnosed in 2018 [9][10][11][12][13][14]. Moreover, breast cancer is one of the most prominent primary tumours in LFS, accounting for up to 80% of all cancer cases in females with LFS between the ages of 16 and 45 years.…”

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confidence: 99%

Li-Fraumeni Syndrome, A Rarity Among Rarities: A Case Report and Review of Literature

Elremeli,

Idaewor,

Rasheed

et al. 2023

Cureus

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Li-Fraumeni syndrome (LFS) is a rare inherited cancer susceptibility disorder with a wide tumour spectrum, particularly in children and young adults. Patients with LFS have life-long cancer risk, and the most commonly encountered tumours include soft tissue sarcoma, breast cancer, brain tumours, osteosarcoma, leukaemia and adrenocortical carcinoma. LFS is associated with mutations in the tumour suppressor gene TP53, andnearly two-thirds of families with LFS have this germline mutation. However, the diagnosis of LFS is currently based on recognised strict clinical criteria regardless of the genetic mutation status, as a few families with the clinical characteristics and cancer predisposition of LFS do not have TP53 mutations. Breast cancer is particularly significant among the common malignancies associated with LFS as it is the most common cancer in women worldwide. We present a case of a 27-year-old woman with unilateral breast cancer, in whom further history revealed a brain tumour at the age of 14 years. Due to the early onset of breast cancer and history of childhood malignancy, we suspected LFS. Genetic testing revealed a TP53 mutation, further suggesting the diagnosis of LFS. This has important implications in managing this patient's breast cancer, as the need for risk-reducing mastectomy and arranging a special surveillance programme. It also has great implications for the patient’s family members, especially in terms of psychological impact, particularly when the mutation has been detected in children. Also, there is a need for periodic surveillance, which can help in early diagnosis and timely treatment with a more favourable outcome.

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