Two case reports of parathyroid carcinoma and review of the literature

Vital, Juliana Maria de Almeida; Farias, Terence Pires de; Vaisman, Fernanda; Fernandes, Juliana; Moraes, Arli Regina Lopes; Siebra, Paulo José de Cavalcanti; Paixão, José Gabriel Miranda da

doi:10.1016/j.jons.2016.11.001

Cited by 1 publication

(2 citation statements)

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“…But with the use of immunohistochemistry, now parathyroid adenoma and carcinoma can be clearly differentiated. The main immunohistochemistry features suggestive of PC are, loss of expression of parafibromin, Rb, p27, Bcl-2a, mdm -2 and APC with the positivity of galectin and overexpression of P53 and Ki index of > 5% [ 4 ]. Our patient, following initial surgery had a high mitotic index, questionable invasion, overexpression of P53 with Ki index of 12 are more suggestive of parathyroid carcinoma rather than atypical adenoma.…”

Section: Discussionmentioning

confidence: 99%

“…Familial syndromes, such as hyperparathyroidism-jaw tumour (HPT-JT) syndrome, multiple endocrine neoplasia (MEN) types 1 and 2A and familial isolated hyperparathyroidism have been linked with parathyroid carcinoma [ 3 ]. Inactivation mutations of HRPT2 (CDC73 or Parafibromin), retinoblastoma (RB) and p53 genes [ 4 ] and activation mutation of cyclin D1 gene could be involved in the pathogenesis of parathyroid carcinoma [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Parathyroid carcinoma during pregnancy: a novel pathogenic CDC73 mutation – a case report

Dematapitiya

Perera²,

Pathmanathan

et al. 2022

BMC Endocr Disord

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Background Parathyroid carcinoma is an uncommon cause of PTH-dependent hypercalcemia. Only a handful of cases have been reported of parathyroid carcinoma during pregnancy. Case presentation Twenty-four – Year – old female presented with proximal myopathy was found to have hypercalcemia. Her serum corrected total calcium was – 15 mg/dl (8.5 – 10.3), serum phosphate – 2.3 mg/dl (2.5 – 4.5), intact PTH – 118 pg/ml (20 – 80), Vitamin D – 15 ng/ml and Urine Ca/Cr ratio – 2.1 (0.1 – 0.2). Her CECT–neck revealed a well-defined mass lesion posterior to the right lobe of the thyroid – 2.6 cm × 2.5 cm × 2.9 cm in size. She was started on vitamin D supplementation, and she underwent right lower focal parathyroidectomy. Her PTH levels normalized following surgery. Her histology revealed an atypical parathyroid adenoma. She was treated with calcium and vitamin D. Her follow up was uneventful. One year following initial surgery the patient became pregnant and at 16 weeks of POA, the patient presented with a rapidly enhancing neck mass for one week duration. Her biochemical investigations were suggestive of a recurrence of primary hyperparathyroidism. Her ultrasound scan of the neck revealed a well-defined discreate hypoechoic nodule, superior to the thyroid isthmus which was confirmed by a non-contrast MRI scan of the neck. She underwent an uncomplicated second trimester parathyroid tumour excision with normalization of post op PTH. Her histology revealed a parathyroid carcinoma with vascular and capsular invasion. Her genetic studies revealed a novel frameshift mutation of the CDC73 gene. She was treated with calcium and vitamin D supplementation and closely followed up with ionized calcium and PTH levels which were normal throughout the pregnancy. She had an uncomplicated caesarean section at a POA of 37 weeks. Currently she is twelve weeks post-partum, in remission of disease. Conclusion This case shows the importance of stringent follow up of atypical parathyroid adenoma patients, the benefit of second trimester surgery in management of hypercalcemia due to parathyroid carcinoma during pregnancy and the importance of identifying the novel CDC73 gene mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%