卡尼综合征 (CNC) 是一种罕见的常染色体显性综合征，最常见由 PRKAR1A 基因突变引起，其特征是皮肤和粘膜色素改变，伴有多种内分泌和非内分泌肿瘤。本病例报告强调了患有多种肿瘤和复杂病史的患者中与 CNC 相关的诊断挑战，包括产生皮质醇的肾上腺腺瘤、乳腺癌、黑色素瘤和心房粘液瘤。我们报告了一名 41 岁女性的病例具有因产生皮质醇的腺瘤而接受左肾上腺切除术的病史（2005 年），随访时没有肾上腺功能不全的迹象，因 BRCA1/2 阴性癌接受右乳房切除术（2013 年）和左腮腺 BRAF-V600E 野生型黑色素瘤切除术（2019 年），接受纳武单抗辅助治疗。 2019年8月，第五次纳武利尤单抗给药后，患者因医源性垂体炎出现中枢性皮质醇功能减退症，经脑部MRI证实，并接受口服氢化可的松适当治疗。由于患者的决定，纳武单抗被停用。 2020年10月和2021年4月，患者出现缺血性中风，需要全身溶栓。超声心动图检查发现左心房肿块，组织学发现粘液瘤。考虑到这种肿瘤的罕见性和对综合征性疾病的怀疑，进行了基因评估，证实了 PRKAR1A 基因突变和卡尼复合体的诊断。该病例说明了 CNC 的诊断挑战，特别是对于具有多种肿瘤表现和各种危及生命的临床表现的患者。它强调了多学科方法诊断和管理罕见疾病的重要性，通过及时的基因检测和协调护理来改善患者的治疗结果。© 2024。作者。

Carney complex (CNC) is a rare, autosomal dominant syndrome, most commonly caused by PRKAR1A gene mutations and characterized by pigmented skin and mucosal changes with multiple endocrine and non-endocrine tumours. This case report highlights the diagnostic challenges associated with CNC in a patient with multiple neoplasms and a complex medical history, including cortisol-producing adrenal adenoma, breast cancer, melanoma, and atrial myxoma.We report the case of a 41-year-old woman with a medical history of left adrenalectomy for cortisol producing adenoma (2005) with no sign of adrenal insufficiency at follow-up, right mastectomy for BRCA1/2 negative carcinoma (2013) and left parotid BRAF-V600E wild-type melanoma (2019), treated with nivolumab adjuvant therapy. In August 2019, following the fifth nivolumab administration, the patient developed central hypocortisolism due to iatrogenic hypophysitis, confirmed by brain MRI and properly treated with oral hydrocortisone. Nivolumab was discontinued due to the patient's decision. In October 2020 and April 2021, the patient had ischaemic strokes, requiring systemic thrombolysis. Echocardiographic examination then revealed a left atrial mass, with histological finding of myxoma.Given the rarity of this neoplasm and the suspicion of a syndromic disorder, a genetic evaluation was conducted, which confirmed a PRKAR1A gene mutation and the diagnosis of Carney complex.This case illustrates the diagnostic challenges in CNC, especially in patients with multiple tumourous manifestations and a wide spectrum of life-threatening clinical presentations. It underscores the importance of a multidisciplinary approach to diagnose and manage rare diseases, improving patient outcomes through timely genetic testing and coordinated care.© 2024. The Author(s).