Parathyroid Carcinoma in Multiple Endocrine Neoplasia Type 1 with a Classic Germline Mutation

Shih, Roger; Fackler, Sarah; Maturo, Stephen; True, Mark W.; Brennan, Joseph; Wells, David

doi:10.4158/ep09045.crr1

Cited by 32 publications

(28 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In the bibliographic search only five cases of parathyroid carcinoma in MEN1 were found (Table 1). [16][17][18][19] In two of these cases, included in the same publication, 16 no mutation of the MEN1 gene was detected, leading the authors to suggest that this could indicate the presence of one or more novel occult mutations with a more aggressive phenotype. Nevertheless, in other cases which were similar to those described in this report, mutations of the MEN1 gene were detected (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Pozo¹,

García-Pascual²,

Balsells³

et al. 2011

View full text Add to dashboard Cite

Parathyroid carcinoma is an infrequent cause of primary hyperparathyroidism. Although hyperparathyroidism in multiple endocrine neoplasia 1 (MEN1) syndrome is the most common manifestation, parathyroid carcinoma is rare. We report a male patient who was diagnosed at 44 years of age with parathyroid carcinoma in the context of MEN1 syndrome coincident with a malignant gastrinoma and non-functioning adrenal adenomas. A genetic analysis revealed the mutation W183c in exon 3 of the MEN1 gene. the diagnosis of carcinoma was made after parathyroid surgery; there had been no clinical suspicion prior to surgery, as the patient had presented only moderate hypercalcemia. Our review of the few published cases of parathyroid carcinoma in MEN1 syndrome reported in the literature indicates that MEN1 gene mutations do not confer a greater risk for parathyroid carcinoma and do not appear to differ from sporadic parathyroid carcinoma.

show abstract

Section: Discussionmentioning

confidence: 99%

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Pozo¹,

García-Pascual²,

Balsells³

et al. 2011

View full text Add to dashboard Cite

show abstract

“…26 Parathyroid carcinoma has also been reported in familial isolated hyperparathyroidism [27][28] and in rare patients with MEN1 syndrome. [29][30][31][32][33] A single case of parathyroid carcinoma has been reported in a patient with MEN2A syndrome. 34…”

Section: Etiologymentioning

confidence: 96%

Parathyroid Carcinoma

Cetani

Marcocci

2015

The Parathyroids

View full text Add to dashboard Cite

“…Endocrine Journal Advance Publication Discussion PHPT of MEN1 is mostly caused by parathyroid hyperplasia, and PC is quite rare as the causasive lesion with a prevalence reported as 0.28 to 2% [3,5,6]. There were 14 cases of MEN1-associated PC previously reported (Table 2) [5][6][7][8][9][10][11][12][13][14][15][16]. Very high levels of serum Ca and i-PTH, a palpable neck mass, and severe bone disease such as osteitis fibrosa cystica are the specific clinical features of PC [17].…”

mentioning

confidence: 99%

“…Only in two cases, PC was suspected prior to surgery. with one case having a high Ca concentration [11] and the other case detected by an aspiration biopsy [12]. Generally, needle puncture of a parathyroid gland for the purpose of diagnosis is not recommended because of the risk of dissemination.…”

mentioning

confidence: 99%

Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case

et al. 2018

View full text Add to dashboard Cite

Abstract. Primary hyperparathyroidism is the most common hormonal manifestation associated with multiple endocrine neoplasia 1 (MEN1). It is generally caused by parathyroid hyperplasia, and parathyroid carcinoma is rare. Here, we report a case of MEN1 with parathyroid carcinoma in two parathyroid glands causing primary hyperparathyroidism. A 40-year-old man with primary hyperparathyroidism due to MEN1 underwent a total parathyroidectomy. His corrected calcium and intact PTH (i-PTH) serum levels were 10.8 mg/dL and 203 pg/mL, respectively. Although three glands were successfully removed, the left upper parathyroid gland could not be detected. Since the right lower parathyroid lesion had invaded into the thyroid, right lobectomy was performed. A portion of the left lower parathyroid tissue was transplanted into his forearm. The histological findings of the left lower and the right upper parathyroid glands were consistent with hyperplasia while that of the right lower parathyroid gland was parathyroid carcinoma. Since the post-surgical i-PTH levels remained high, the intrathyroidal lesion of the left lobe, which was initally diagnosed as an adenomatous nodule, was suspected to contain parathyroid tumor. A fine needle aspiration of the tumor revealed a high concentration of i-PTH. One week after the first surgery, a left thyroid lobectomy was performed. The pathological diagnosis of the tumor was parathyroid carcinoma. After the surgery, calcium and i-PTH levels were normal. Although it is rare, parathyroid carcinoma should be considered as a cause of hyperparathyroidism in MEN1 patients. Since it is difficult to diagnose parathyroid carcinoma before surgery, intraoperative findings are important for the appropriate treatment. nancy that is found in less than 5% of PHPT patients [2]. PC occurs only in 2% of MEN1 patients that have received surgery for PHPT [3] in contrast to the 15% of PC found in hyperparathyroidism-jaw tumor syndrome patients [4]. Here, we report a case of MEN1 with PC causing primary hyperparathyroidism. Case presentationA 40-year-old man was referred for follow up of MEN1. His mother was diagnosed as PHPT due to MEN1, 3 years before by his previous doctor but she had not yet been treated. She also had non-functioning pancreatic tumor, lung cartinoid and was suspected as having prolactinoma as her serum PRL level elavated and pituitary gland swelled. At that time, the previous doctor examined his serum calcium (Ca) and intact-PTH (i-PTH) level and detected hypercalcemia and elevation of

show abstract

Parathyroid Carcinoma in Multiple Endocrine Neoplasia Type 1 with a Classic Germline Mutation

Cited by 32 publications

References 18 publications

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Parathyroid Carcinoma

Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case

Contact Info

Product

Resources

About