Abstract：
BACKGROUND: Primary hyperparathyroidism (PHPT) caused by parathyroid tumours is mostly sporadic, with a genetic cause identified in 5-10% of cases. Familial parathyroid tumours can be included in complex syndromes, such as multiple endocrine neoplasia (MEN) type 1, 2A and 4 or hyperparathyroidism-jaw tumour syndrome (HPT-JT).
OBJECTIVE: Characterisation of the familial parathyroid tumours followed-up at our centre and comparison of the different clinicopathological manifestations between the syndromes.
METHODS: Retrospective analysis of 48 patients with familial parathyroid tumours harbouring RET (n = 11), CDC73 (n = 20) and MEN1 (n = 17) germline mutations was performed.
RESULTS: Cases of PHPT in MEN2A syndrome presented with lower serum PTH (sPTH) and serum calcium (sCa) levels at diagnosis (sPTH = 108.0 (IQR 53.3) pg/mL, sCa = 10.6 ± 1.1 mg/dL) than MEN1 (sPTH = 196.9 (IQR 210.5) pg/mL, sCa = 11.7 ± 1.2 mg/dL) (p = 0.01, p = 0.03, respectively) or HPT-JT cases (sPTH = 383.5 (IQR 775.8) pg/mL, sCa = 12.9 ± 1.8 mg/dL) (p = 0.01; p < 0.001, respectively). There was a statistical difference in sCa levels between MEN1 and HPT-JT (p = 0.02), but not between sPTH (p = 0.07). The predominant first manifestation of the syndrome in MEN1 was gastroenteropancreatic neuroendocrine tumour (GEP-NET) in 47.1% of the cases, in MEN2A was medullary thyroid cancer (90.9%) and in HPT-JT was PHPT in 85% patients. In MEN1 syndrome, the number of affected parathyroid glands was significantly higher than in MEN2A (p < 0.001) and HPT-JT (p = 0.01).
CONCLUSIONS: The first manifestation of the syndrome in MEN1 cases was GEP-NET and not PHPT. Although presenting at similar ages, patients with MEN2A exhibit less severe biochemical and clinical PHPT at diagnosis than the other familial syndromes.
OBJECTIVE: Characterisation of the familial parathyroid tumours followed-up at our centre and comparison of the different clinicopathological manifestations between the syndromes.
METHODS: Retrospective analysis of 48 patients with familial parathyroid tumours harbouring RET (n = 11), CDC73 (n = 20) and MEN1 (n = 17) germline mutations was performed.
RESULTS: Cases of PHPT in MEN2A syndrome presented with lower serum PTH (sPTH) and serum calcium (sCa) levels at diagnosis (sPTH = 108.0 (IQR 53.3) pg/mL, sCa = 10.6 ± 1.1 mg/dL) than MEN1 (sPTH = 196.9 (IQR 210.5) pg/mL, sCa = 11.7 ± 1.2 mg/dL) (p = 0.01, p = 0.03, respectively) or HPT-JT cases (sPTH = 383.5 (IQR 775.8) pg/mL, sCa = 12.9 ± 1.8 mg/dL) (p = 0.01; p < 0.001, respectively). There was a statistical difference in sCa levels between MEN1 and HPT-JT (p = 0.02), but not between sPTH (p = 0.07). The predominant first manifestation of the syndrome in MEN1 was gastroenteropancreatic neuroendocrine tumour (GEP-NET) in 47.1% of the cases, in MEN2A was medullary thyroid cancer (90.9%) and in HPT-JT was PHPT in 85% patients. In MEN1 syndrome, the number of affected parathyroid glands was significantly higher than in MEN2A (p < 0.001) and HPT-JT (p = 0.01).
CONCLUSIONS: The first manifestation of the syndrome in MEN1 cases was GEP-NET and not PHPT. Although presenting at similar ages, patients with MEN2A exhibit less severe biochemical and clinical PHPT at diagnosis than the other familial syndromes.
摘要：
背景：由甲状旁腺肿瘤引起的原发性甲状旁腺功能亢进（PHPT）大多是散发性的，在5-10%的病例中发现了遗传原因。家族性甲状旁腺肿瘤可包括在复杂综合征中，如多发性内分泌瘤（MEN）1、2A和4型或甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）。
目的：在我们中心随访的家族性甲状旁腺肿瘤的特征，并比较不同综合征之间的不同临床病理表现。
方法：回顾性分析48例家族性甲状旁腺肿瘤患者（n=11），进行CDC73(n=20)和MEN1(n=17)种系突变。
结果：MEN2A综合征的PHPT病例在诊断时血清PTH（sPTH）和血清钙（sCa）水平较低（sPTH=108.0（IQR53.3）pg/mL，sCa=10.6±1.1mg/dL)比MEN1(sPTH=196.9(IQR210.5)pg/mL,sCa=11.7±1.2mg/dL）（分别为p=0.01，p=0.03）或HPT-JT病例（sPTH=383.5（IQR775.8）pg/mL，sCa=12.9±1.8mg/dL)(分别为p=0.01;p<0.001)。MEN1和HPT-JT之间的sCa水平有统计学差异（p=0.02），但不在sPTH之间（p=0.07）。MEN1综合征的主要首发表现是47.1％的病例中的胃肠胰腺神经内分泌肿瘤（GEP-NET），MEN2A患者为甲状腺髓样癌(90.9%),HPT-JT患者为85%的PHPT.在MEN1综合征中，受影响的甲状旁腺的数量明显高于MEN2A（p<0.001）和HPT-JT（p=0.01）。
结论：在MEN1病例中，该综合征的首发表现是GEP-NET，而不是PHPT。虽然在相似的年龄出现，MEN2A患者在诊断时的生化和临床PHPT比其他家族性综合征严重.
目的：在我们中心随访的家族性甲状旁腺肿瘤的特征，并比较不同综合征之间的不同临床病理表现。
方法：回顾性分析48例家族性甲状旁腺肿瘤患者（n=11），
结果：MEN2A综合征的PHPT病例在诊断时血清PTH（sPTH）和血清钙（sCa）水平较低（sPTH=108.0（IQR53.3）pg/mL，
结论：在MEN1病例中，该综合征的首发表现是GEP-NET，而不是PHPT。
