Iványi Gábor, Christofi Alexandros, Sipka Gábor, Zombori Tamás, Kuthi Levente, Simon Andrea, Dobi Deján, Lázár György, Valkusz Zsuzsanna, Iványi Béla
Department of Internal Medicine, Albert Szent-Györgyi Medical School, University of Szeged, 6722 Szeged, Hungary.
Department of Nuclear Medicine, Albert Szent-Györgyi Medical School, University of Szeged, 6720 Szeged, Hungary.
Int J Mol Sci. 2025 May 7;26(9):4441. doi: 10.3390/ijms26094441.
The clinicopathological and molecular features of synchronous parathyroid carcinoma (PC) and thyroid carcinoma in a male patient are presented. At 11, he received mantle field radiotherapy for Hodgkin lymphoma. He had a 26-year adulthood history of recurrent nephrolithiasis treated five times with lithotripsy. At 52, he was referred to our clinic for hypercalcemia. Primary hyperparathyroidism was diagnosed (calcium: 3.46 mmol/L, parathormone: 150 pmol/L, preserved renal function, nephrolithiasis, and osteoporosis). Neck ultrasound revealed a 41 × 31 × 37 mm nodule in the left thyroid and smaller nodules in the right thyroid. Enlarged cervical lymph nodes were not observed. The large nodule was interpreted as parathyroid adenoma on 99Tc-pertechnetate scintigraphy/99Tc-MIBI scintigraphy with SPECT/CT. Total left-sided and subtotal right-sided thyroidectomy were performed. Histopathology confirmed locally invasive, low-grade PC (pT2; positive for parafibromin and E-cadherin, negative for galectin-3 and PGP9.5; wild-type expression for p53 and retinoblastoma protein; Ki-67 index 10%) and incidental papillary thyroid carcinoma (pT1b). Genetic profiling revealed no loss in , , , , , , and genes. Deletions in , , , , , and genes and monosomies in nine chromosomes were identified. The tumor mutational burden and genomic instability score were low, and the tumor was microsatellite-stable. The thyroid carcinoma exhibited a fusion. Following surgery, the parathormone and calcium levels had normalized, and the patient underwent radioiodine treatment for thyroid cancer. The follow-up of 14 months was eventless. In summary, the clinical, laboratory, and imaging features of hyperparathyroidism taken together could have suggested malignancy, then confirmed histologically. The synchronous carcinomas were most likely caused by irradiation treatment diagnosed 41 years after exposure. It seems that the radiation injury initially induced parathyroid adenoma in young adulthood, which underwent a malignant transformation around age fifty.
本文报告了一名男性患者同步发生甲状旁腺癌（PC）和甲状腺癌的临床病理及分子特征。11岁时，他因霍奇金淋巴瘤接受了斗篷野放疗。成年后有26年复发性肾结石病史，曾接受5次碎石治疗。52岁时，因高钙血症转诊至我院。诊断为原发性甲状旁腺功能亢进（血钙：3.46 mmol/L，甲状旁腺激素：150 pmol/L，肾功能正常，有肾结石和骨质疏松）。颈部超声显示左甲状腺有一个41×31×37 mm的结节，右甲状腺有较小的结节。未观察到颈部淋巴结肿大。在99Tc-高锝酸盐闪烁扫描/99Tc-MIBI闪烁扫描联合SPECT/CT检查中，大结节被诊断为甲状旁腺腺瘤。行左侧甲状腺全切术和右侧甲状腺次全切除术。组织病理学证实为局部侵袭性低级别甲状旁腺癌（pT2；副纤维蛋白和E-钙黏蛋白阳性，半乳糖凝集素-3和PGP9.5阴性；p53和视网膜母细胞瘤蛋白野生型表达；Ki-67指数10%）和偶然发现的乳头状甲状腺癌（pT1b）。基因分析显示， 、 及 基因无缺失， 、 、 、 、 及 基因有缺失，9条染色体有单体。肿瘤突变负荷和基因组不稳定性评分较低，肿瘤为微卫星稳定。甲状腺癌表现为 融合。手术后，甲状旁腺激素和血钙水平恢复正常，患者接受了甲状腺癌放射性碘治疗。14个月的随访无异常情况。总之，甲状旁腺功能亢进的临床、实验室和影像学特征综合起来可能提示恶性肿瘤，随后经组织学证实。同步发生的癌很可能是41年前接触辐射治疗所致。似乎辐射损伤最初在青年期诱发了甲状旁腺腺瘤，该腺瘤在50岁左右发生了恶性转化。
