A Pediatric Parathyroid Carcinoma: An Unusual Clinical Presentation and Mini-review

Abstract

Introduction: Primary hyperparathyroidism (PHPT) is a rare condition in the pediatric population. Parathyroid carcinoma (PC) is a very uncommon cause of PHPT, accounting for < 1% of pediatric PHPT cases. It is challenging to distinguish between parathyroid adenoma (PA), the most common cause of PHPT, and PC. In this report, we described a young female who presented with a history of progressive limping and was finally diagnosed with PC. Case Presentation: A 15-year-old girl presented with progressive limping and bone pain for 8 years. She was referred by an orthopedic surgeon because of elevated intact parathyroid hormone (iPTH) for further evaluation. Physical examination revealed a large, firm, and non-tender neck mass, left hip tenderness, and limited range of motion. The initial biochemistry tests showed a borderline high calcium level of 10.8 mg/dl, an elevated iPTH level of 2876 pg/mL, and a decreased phosphorus level of 2.4 mg/dL. The 99mTechnetium (Tc) sestamibi scan displayed early intense activity in the right thyroid lobe persisting in the three-hour repeat scan, compatible with a parathyroid lesion. The patient underwent right-sided neck exploration and parathyroidectomy. Intraoperative and pathology findings confirmed the diagnosis of PC. Immunohistochemistry (IHC) staining revealed creatine kinase (CK) and CD31 in endothelial cells of the tumor. Ki67 staining was also positive in 2% - 3% of tumor cells. The whole exome sequencing (WES) study was negative for cell division cycle 73 (CDC73) and multiple endocrine neoplasia 1 (MEN1) genes. Conclusions: PC should be considered as a differential diagnosis of PHPT in the pediatric population, even in the presence of mild hypercalcemia.

Pediatric Neuroendocrine Neoplasia of the Parathyroid Glands: Delving into Primary Hyperparathyroidism

“…As expected from the data on adults diagnosed with a parathyroid carcinoma, this exceptional histological entity (that is described in less than 1% of pediatric cases with PHP) is associated with very high PTH values [72,73]. For instance, Rahimi et al [73] reported on a 15-year-old female who initially presented with a PTH level of 2876 pg/mL (the immunohistochemistry report showed a Ki67 of 2-3%, and positive CK and CD31 reactions) [73]. The same authors [73] performed an analysis of published cases (from 1972 to 2020) and found 17 reports of parathyroid carcinoma in the pediatric population; total serum calcium varied between 12 and 20.7 mg/dL, and PTH levels were between 300 and 8638 pg/mL (the ages reported were between 8 and 16 years; the male to female ratio was 0.6; 60% of these children had palpable neck tumors; 50% of them displayed various bone complications; one out of five subjects had distant metastases, particularly pulmonary and lymphatic) [73].…”

“…As expected from the data on adults diagnosed with a parathyroid carcinoma, this exceptional histological entity (that is described in less than 1% of pediatric cases with PHP) is associated with very high PTH values [72,73]. For instance, Rahimi et al [73] reported on a 15-year-old female who initially presented with a PTH level of 2876 pg/mL (the immunohistochemistry report showed a Ki67 of 2-3%, and positive CK and CD31 reactions) [73].…”

“…For instance, Rahimi et al [73] reported on a 15-year-old female who initially presented with a PTH level of 2876 pg/mL (the immunohistochemistry report showed a Ki67 of 2-3%, and positive CK and CD31 reactions) [73]. The same authors [73] performed an analysis of published cases (from 1972 to 2020) and found 17 reports of parathyroid carcinoma in the pediatric population; total serum calcium varied between 12 and 20.7 mg/dL, and PTH levels were between 300 and 8638 pg/mL (the ages reported were between 8 and 16 years; the male to female ratio was 0.6; 60% of these children had palpable neck tumors; 50% of them displayed various bone complications; one out of five subjects had distant metastases, particularly pulmonary and lymphatic) [73]. Of note, a similar review from 2020 identified 12 published cases of parathyroid carcinomas in children, in addition to a new report of a 13-year-old male (with a baseline total serum calcium of 15.43 mg/dL and PTH of 980 pg/mL) [72].…”

“…Table 4. Case reports and series (<10 patients per article) of pediatric PHP (the list starts with the most recent publications) [9][10][11]15,29,[34][35][36][37][38][39][40]44,66,[68][69][70][71][72][73][74]77,78,[83][84][85]; the published cases with specific genetic testing were already introduced in Table 3 [17,53,61,62,64,65,67]. Abbreviations: C = case; CT = computed tomography; PT = parathyroid; PHP = primary hyperparathyroidism; SPECT/CT = single-photon emission computerized tomography/computed tomography; VATS = video-assisted thoracic surgery.…”

Chirurgische Therapie kritischer Hyperkalzämien und hyperkalzämischer Krisen

“…Dieses Verhältnis ändert sich jedoch bei Betrachtung der Gruppe mit kritischer Hyperkalzämie und hyperkalzämischer Krise. Hier werden vermehrt atypische Adenome und NSD-Karzinome gefunden [41,43,48,49,55,56,57]. So berichteten Gurrado et al [53] in einer Literaturrecherche von 499 Patient*innen mit hyperkalzämischer Krise, dass bei 32 von 318 Patient*innen (10,1 %) ein NSD-Karzinom nachgewiesen wurde.…”