PDF(Pubmed)
Abstract：
Parathyroid carcinoma (PC) is extremely rare in children and adolescent. PC is more often sporadic, but also it could be associated with germline mutations. The clinical features of primary hyperparathyroidism (PHPT) are nonspecific in children and adolescent, which delays the diagnosis for years. This case of PC in a pediatric patient, caused by germline heterozygous pathogenic variant in exon 1 of the CDC73 gene (c.70 G > T, p. Glu24Ter) is the first to be reported in Russia. Due to the rarity of pediatric parathyroid malignancy, the diagnosis of this endocrine neoplasm remains a challenge. The main difficulties that we faced in the management of the patient were the morphological confirmation of diagnosis, multiple surgical interventions, and disseminated PC metastases. We describe a 13-year-old girl with delayed diagnosis of PC and subsequent local recurrence after several surgeries, who underwent specific radiation therapy that allowed controlling hypercalcemia.
摘要：
甲状旁腺癌（PC）在儿童和青少年中极为罕见。PC通常是零星的，但它也可能与种系突变有关。原发性甲状旁腺功能亢进症（PHPT）的临床特征在儿童和青少年中是非特异性的，这将诊断推迟了几年。这个儿科病人的PC病例,由CDC73基因外显子1的种系杂合致病变异引起（c.70G>T，p。Glu24Ter）是俄罗斯最早报道的。由于小儿甲状旁腺恶性肿瘤的罕见，这种内分泌肿瘤的诊断仍然是一个挑战.我们在患者的管理中面临的主要困难是诊断的形态学确认，多种手术干预措施，和播散的PC转移。我们描述了一个13岁的女孩，在几次手术后，延迟诊断为PC并随后局部复发，他们接受了允许控制高钙血症的特定放射治疗。
