Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.

Autor: Ko YL; Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Kumar V; Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Lippert J; Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany., Diaz-Cano S; Department of Histopathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Skordilis K; Department of Histopathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Kimpel O; Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany., Kircher S; Institute for Pathology, University of Würzburg, Würzburg, Germany., Asia M; Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Elhassan YS; Institute of Metabolism and System Research, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, B15 2TT, UK.; Centre for Endocrinology, Diabetes, and Metabolism (CEDAM), Birmingham Health Partners, Birmingham, UK., Altieri B; Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany., Ronchi CL; Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany. C.L.Ronchi@bham.ac.uk.; Institute of Metabolism and System Research, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, B15 2TT, UK. C.L.Ronchi@bham.ac.uk.; Centre for Endocrinology, Diabetes, and Metabolism (CEDAM), Birmingham Health Partners, Birmingham, UK. C.L.Ronchi@bham.ac.uk.
Jazyk: angličtina
Zdroj: BMC endocrine disorders [BMC Endocr Disord] 2023 Jan 06; Vol. 23 (1), pp. 4. Date of Electronic Publication: 2023 Jan 06.
DOI: 10.1186/s12902-022-01253-7
Abstrakt: 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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