Triggiani Vincenzo, Castellana Marco, Basile Paolo, Renzulli Giuseppina, Giagulli Vito Angelo
Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, Interdisciplinary Department of Medicine, University of Bari, School of Medicine, Policlinico, Bari, Italy.
Via Turi 44 Rutigliano, Bari, Italy.
Endocr Metab Immune Disord Drug Targets. 2019;19(3):382-388. doi: 10.2174/1871530318666180910123316.
Neurofibromatosis type 1 is an autosomal dominant disorder characterized by an increased incidence of tumors, including endocrine ones. Primary hyperparathyroidism can be rarely caused by a parathyroid carcinoma; these patients are generally characterized by severe symptoms, large neck lesions and high levels of PTH and calcium. We report a case of hyperparathyroidism due to parathyroid carcinoma in a patient affected by neurofibromatosis type 1. A systematic review of the literature was also conducted.
A 56-year-old woman was referred for a 13 mm-nodular lesion of the neck incidentally discovered on ultrasound examination and mild hyperparathyroidism. A 99mTctetrofosmin/ pertechnetate subtraction scintigraphy was negative for parathyroid disease. Given the absence of suspicious ultrasound finding, a fine-needle aspiration cytology was performed with iPTH determination in the aspirate, confirming the parathyroid origin of the lesion. The patient underwent left inferior parathyroidectomy with intraoperative monitoring of iPTH and became normocalcemic. On histopathological examination, parathyroid carcinoma presenting at the resection margin was diagnosed, thus a surgery revision was requested.
Even if literature does not support a syndromic association between neurofibromatosis type 1 and primary hyperparathyroidism, the benefit of precociously diagnosing and treating this condition may outweigh costs associated with screening. This case report moreover demonstrates that sometimes clinical, laboratory and imaging aspects suspicious for cancer may be missing. A prompt referral to a high-volume center is crucial for the management of those cases of incidental histopathological diagnosis.
1型神经纤维瘤病是一种常染色体显性疾病，其特征为肿瘤发病率增加，包括内分泌肿瘤。原发性甲状旁腺功能亢进很少由甲状旁腺癌引起；这些患者通常具有严重症状、颈部大肿块以及高水平的甲状旁腺激素（PTH）和钙。我们报告1例1型神经纤维瘤病患者发生甲状旁腺癌导致的甲状旁腺功能亢进病例。同时还对文献进行了系统综述。
一名56岁女性因超声检查偶然发现颈部有一个13毫米的结节性病变以及轻度甲状旁腺功能亢进前来就诊。99mTc-替曲膦/高锝酸盐减影闪烁扫描显示甲状旁腺疾病为阴性。鉴于超声检查未发现可疑迹象，遂进行细针穿刺细胞学检查并测定穿刺液中的iPTH，证实病变起源于甲状旁腺。患者接受了左下方甲状旁腺切除术，术中监测iPTH，术后血钙恢复正常。组织病理学检查诊断为切除边缘出现甲状旁腺癌，因此要求再次手术。
即使文献不支持1型神经纤维瘤病与原发性甲状旁腺功能亢进之间存在综合征关联，但早期诊断和治疗这种疾病的益处可能超过筛查相关的成本。本病例报告还表明，有时可能会遗漏癌症可疑的临床、实验室和影像学表现。对于那些偶然组织病理学诊断的病例，及时转诊至高容量中心对于管理至关重要。
