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甲状旁腺腺瘤、甲状腺乳头状癌、嗜铬细胞瘤和心脏黏液瘤的散发性共存:一种针对极其罕见肿瘤组合的多学科治疗方法。

Sporadic Coexistence of Parathyroid Adenoma, Papillary Thyroid Carcinoma, Pheochromocytoma, and Cardiac Myxoma: A Multidisciplinary Approach to an Extremely Rare Tumor Constellation.

作者信息

Umeda Yukio, Mitta Shohei, Matsuno Yukihiro, Yoshikawa Shoji, Azuma Kenichiro

机构信息

Cardiovascular and Thoracic Surgery, Gifu Prefectural General Medical Center, Gifu, JPN.

Food and Nutritional Science, Toita Women's College, Tokyo, JPN.

出版信息

Cureus. 2025 May 14;17(5):e84134. doi: 10.7759/cureus.84134. eCollection 2025 May.

Abstract

A 74-year-old woman was referred for evaluation of asymptomatic hypercalcemia detected during a routine health examination. Laboratory testing confirmed primary hyperparathyroidism, with elevated serum calcium and intact parathyroid hormone (PTH) levels. Further diagnostic workup revealed a constellation of neoplasms: a parathyroid adenoma, papillary thyroid carcinoma, a right adrenal pheochromocytoma, a non-functional left adrenal cortical adenoma, and an incidental left atrial myxoma. There was no family history suggestive of hereditary tumor syndromes, and the patient declined genetic testing despite medical recommendation. A multidisciplinary team, including specialists in endocrinology, urology, otolaryngology, cardiology, cardiovascular surgery, and anesthesiology, collaborated to formulate a treatment strategy that minimized perioperative risks. Given the risk of hypertensive crisis, the right adrenal pheochromocytoma was resected first following adequate alpha-adrenergic blockade. This was followed by parathyroidectomy and left thyroid lobectomy with central neck dissection. Finally, to prevent potential embolic complications, the left atrial myxoma was excised via a transseptal approach under cardiopulmonary bypass. Histopathological examination confirmed the diagnoses of all tumors, with no evidence of malignant transformation or residual disease. This case illustrates a rare constellation of endocrine and cardiac tumors. Although the presentation raised clinical suspicion for hereditary syndromes such as multiple endocrine neoplasia (MEN) or Carney complex, the patient's advanced age, absence of mucocutaneous features, and negative family history favored a sporadic etiology. Nonetheless, the unusually delayed onset raises the possibility of a low-penetrance or as-yet-undescribed hereditary syndrome. Strategic surgical sequencing and interdisciplinary coordination were critical to ensuring patient safety and favorable clinical outcomes. Lifelong follow-up remains essential to monitor for recurrence and to reassess genetic risks as genomic technologies continue to evolve.

摘要

一名74岁女性因常规健康检查时发现无症状高钙血症而前来接受评估。实验室检查确诊为原发性甲状旁腺功能亢进,血清钙和完整甲状旁腺激素(PTH)水平升高。进一步的诊断检查发现了一系列肿瘤:甲状旁腺腺瘤、乳头状甲状腺癌、右肾上腺嗜铬细胞瘤、无功能的左肾上腺皮质腺瘤以及偶然发现的左心房黏液瘤。没有提示遗传性肿瘤综合征的家族史,尽管有医学建议,但患者拒绝进行基因检测。一个多学科团队,包括内分泌学、泌尿外科、耳鼻喉科、心脏病学、心血管外科和麻醉学专家,共同协作制定了一项将围手术期风险降至最低的治疗策略。鉴于存在高血压危象的风险,在充分的α-肾上腺素能阻滞之后,首先切除右肾上腺嗜铬细胞瘤。随后进行甲状旁腺切除术和左侧甲状腺叶切除术并清扫中央区颈部淋巴结。最后,为防止潜在的栓塞并发症,在体外循环下通过经房间隔途径切除左心房黏液瘤。组织病理学检查证实了所有肿瘤的诊断,没有恶性转化或残留疾病的证据。该病例说明了一种罕见的内分泌和心脏肿瘤组合。尽管临床表现引发了对遗传性综合征如多发性内分泌腺瘤病(MEN)或卡尼综合征的临床怀疑,但患者的高龄、无黏膜皮肤特征以及阴性家族史支持散发性病因。尽管如此,异常延迟的发病提出了存在低外显率或尚未描述的遗传性综合征的可能性。战略性的手术顺序安排和跨学科协调对于确保患者安全和良好的临床结果至关重要。终身随访对于监测复发以及随着基因组技术不断发展重新评估遗传风险仍然至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92ea/12168737/abb8884dc04b/cureus-0017-00000084134-i01.jpg

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