Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany.
BMC Endocr Disord. 2023 Jan 6;23(1):4. doi: 10.1186/s12902-022-01253-7.
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.
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.
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.
肾上腺皮质癌（ACC）是一种罕见的内分泌恶性肿瘤，其预后存在异质性，而来自其他原发性癌症（包括黑色素瘤）的肾上腺转移可能更为常见。ACC 可能罕见地作为家族性癌症综合征的一部分发生，但即使在散发性病例中，相当一部分患者在诊断 ACC 之前或之后也患有其他恶性肿瘤。在此，我们介绍了三例散发性 ACC 病例，这些病例的患者同时或之前患有黑色素瘤。
患者 1 - 一名 37 岁男性，患有浅表扩散型 BRAF 阳性黑色素瘤，发现其左肾上腺有逐渐增大的肿块。最初，他被怀疑患有肾上腺转移，但肾上腺切除术的组织学结果证实为 ACC。患者 2 - 一名 68 岁男性，曾患有复发性 BRAF 阳性黑色素瘤，被诊断为播散性转移性黑色素瘤复发，包括左肾上腺迅速增大的肿块。因此，他接受了左肾上腺切除术，组织学再次证实为 ACC。患者 3 - 一名 50 岁男性，因转移性 ACC 的组织学诊断而转诊。他有 pT1 黑色素瘤的背景病史。我们对所有病例的 ACC 组织样本进行了靶向测序。在已知的驱动基因 CTNNB1（患者 1）、APC 和 KMT2D（患者 2）和 APC 和 TP53（患者 3）中观察到体细胞变异。在所有病例中均排除了种系 TP53 变异（Li-Fraumeni 综合征）。对我们过去 21 年的患者队列进行回顾性审查显示，有疑似肾上腺肿块的患者中，组织学诊断为黑色素瘤转移的频率为 0.5%。另一方面，组织学证实为 ACC 的患者中有 1.6% 有黑色素瘤病史。
即使肾上腺转移似乎是最可能的诊断，散发性 ACC 也可能发生在黑色素瘤的背景下。对于有可疑肾上腺病变的黑色素瘤病史的所有患者，应考虑并调查是否存在同时存在的原发性肾上腺恶性肿瘤。
