Key result
Sporadic adrenocortical carcinoma can occur in patients with a history of melanoma, with somatic variants observed in known driver genes such as CTNNB1, APC, and TP53.
Why the study?
Even in sporadic adrenocortical carcinoma, a significant proportion of patients have other malignancies, and adrenal masses in melanoma patients may be misdiagnosed as metastases rather than primary malignancies.
Case Report (n=3)
Yes
Sporadic adrenocortical carcinoma can occur in patients with a history of melanoma, highlighting the need to consider primary adrenal malignancy in the differential diagnosis of suspicious adrenal lesions in these patients.
Alerts clinicians to adrenocortical carcinoma in melanoma survivors with adrenal lesions; leaves association and shared drivers unproven.
BACKGROUND: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a heterogeneous prognosis, while adrenal metastasis from other primary cancers, including melanoma, may occur more frequently. ACC may rarely occur as part of familial cancer syndromes, but even in sporadic cases, a significant proportion of patients had other malignancies before or after diagnosis of ACC. Herein we present three cases where sporadic ACC was identified in patients with coexistent or previous history of melanoma. CASE DESCRIPTION: Patient 1 - A 37-yr-old man with a superficial spreading BRAF-positive melanoma was found to harbour a progressively growing left adrenal mass. Initially, he was suspected of having adrenal metastasis, but the histology after adrenalectomy confirmed ACC. Patient 2 - A 68-year-old man with a history of recurrent BRAF-positive melanoma was diagnosed with disseminated metastatic melanoma recurrence, including a rapidly enlarging left adrenal mass. Consequently, he underwent left adrenalectomy, and histology again confirmed ACC. Patient 3 - A 50-yr-old man was referred with histological diagnosis of metastatic ACC. He had a background history of pT1 melanoma. We undertook targeted sequencing of ACC tissue samples in all cases. Somatic variants were observed in the known driver genes CTNNB1 (Patient 1), APC and KMT2D (Patient 2), and APC and TP53 (Patient 3). Germline TP53 variants (Li-Fraumeni syndrome) were excluded in all cases. Retrospective review of our patient cohort in the last 21 years revealed a frequency of 0.5% of histologically diagnosed melanoma metastasis among patients referred for adrenal masses. On the other hand, 1.6% of patients with histologically confirmed ACC had a previous history of melanoma. CONCLUSION: Sporadic ACC can occur in the background of melanoma, even if adrenal metastasis might appear to be the most likely diagnosis. Coexistent primary adrenal malignancy should be considered and investigated for in all patients with a history of melanoma with suspicious adrenal lesions.
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Ko et al. (2023) conducted a case report in Adrenocortical carcinoma and melanoma (n=3). History of melanoma was evaluated. Sporadic adrenocortical carcinoma can occur in patients with a history of melanoma, with somatic variants observed in known driver genes such as CTNNB1, APC, and TP53.
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