Parathyroid carcinoma during pregnancy: a novel pathogenic CDC73 mutation - a case report.
CDC73 mutation
Case report
PTH-dependent hypercalcemia
Parathyroid carcinoma
Pregnancy
Journal
BMC endocrine disorders
ISSN: 1472-6823
Titre abrégé: BMC Endocr Disord
Pays: England
ID NLM: 101088676
Informations de publication
Date de publication:
25 Oct 2022
25 Oct 2022
Historique:
received:
11
02
2022
accepted:
05
10
2022
entrez:
26
10
2022
pubmed:
27
10
2022
medline:
28
10
2022
Statut:
epublish
Résumé
Parathyroid carcinoma is an uncommon cause of PTH-dependent hypercalcemia. Only a handful of cases have been reported of parathyroid carcinoma during pregnancy. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 36284286
doi: 10.1186/s12902-022-01169-2
pii: 10.1186/s12902-022-01169-2
pmc: PMC9594882
doi:
Substances chimiques
Calcium
SY7Q814VUP
Parathyroid Hormone
0
Vitamin D
1406-16-2
Phosphates
0
CDC73 protein, human
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
259Informations de copyright
© 2022. The Author(s).
Références
Cancer Treat Rev. 2020 Jun;86:102012
pubmed: 32247225
J Clin Endocrinol Metab. 2001 Feb;86(2):485-93
pubmed: 11157996
Curr Protoc Hum Genet. 2020 Jun;106(1):e98
pubmed: 32176464
N Engl J Med. 1962 Sep 27;267:637-42
pubmed: 14467191
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S198-200
pubmed: 24251157
J Reprod Med. 1980 Aug;25(2):83-7
pubmed: 7411530
J Reprod Med. 1987 Feb;32(2):123-5
pubmed: 3560072
Obstet Gynecol. 2000 Nov;96(5 Pt 2):841
pubmed: 11094233
Aust N Z J Obstet Gynaecol. 2012 Apr;52(2):204-7
pubmed: 22188427
Endocrinol Diabetes Metab Case Rep. 2014;2014:140056
pubmed: 25298882
J Clin Endocrinol Metab. 2018 Nov 1;103(11):3993-4004
pubmed: 30060226
J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534-4540
pubmed: 29040582
World J Clin Cases. 2014 May 16;2(5):151-6
pubmed: 24868516
Surgery. 1991 Dec;110(6):1028-33; discussion 1033-4
pubmed: 1745971
J Gen Intern Med. 1992 Jul-Aug;7(4):448-53
pubmed: 1506954
Am J Med Sci. 1993 Nov;306(5):309-12
pubmed: 8238086
Mol Cell Biol. 2005 Jun;25(12):5052-60
pubmed: 15923622
Endocr Pract. 1996 Sep-Oct;2(5):362-7
pubmed: 15251518