A Case of Apparently Sporadic Primary Hyperparathyroidism Carrying a Germline Mutation of CDC73 Gene

Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Filomena Cetani ◽  
Claudio Marcocci
2019 ◽  
Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Federica Saponaro ◽  
Elena Pardi ◽  
Chiara Banti ◽  
...  

2007 ◽  
Vol 14 (2) ◽  
pp. 493-499 ◽  
Author(s):  
F Cetani ◽  
E Pardi ◽  
E Ambrogini ◽  
P Viacava ◽  
S Borsari ◽  
...  

Early onset of primary hyperparathyroidism (PHPT) and multiglandular involvement suggest a familial form in which germline mutation of a PHPT-related gene(s) and a somatic event at the same locus can be often demonstrated. We investigated the involvement of multiple endocrine neoplasia type 1 (MEN1) and HRPT2 genes in a 39-year-old man with recurrent PHPT. PHPT was firstly diagnosed at the age of 21 and the patient had two recurrences separated by extended periods of normocalcemia. This unusual history prompted us to investigate other family members and study the MEN1 and HRPT2 genes. An HRPT2 germline missense mutation in exon 3 (R91P) was found in the index case, which was associated with different HRPT2 somatic alterations in each of the three examined parathyroid tumors. These findings are consistent with Knudson’s ‘two hit’ concept of biallelic inactivation of classical tumor suppressor genes. Screening of 15 asymptomatic relatives was negative for the R91P germline mutation. All the three abnormal parathyroid specimens showed cystic features at histology and were negative for parafibromin immunostaining. In one specimen, diffuse parafibromin staining was evident in a rim of normal parathyroid tissue surrounding the adenomatous lesion. Our study shows that different somatic genetic events at the HRPT2 locus are responsible for the asynchronous occurrence of multiple adenomas in a patient carrying an HRPT2 germline mutation. The finding of diffuse parafibromin staining in a rim of normal parathyroid tissue, but not in the contiguous adenomatous lesion, reinforces the concept that loss of parafibromin expression is responsible for the development of parathyroid tumors in this setting.


Endocrine ◽  
2012 ◽  
Vol 43 (2) ◽  
pp. 440-443 ◽  
Author(s):  
Shweta Varshney ◽  
Sanjay Kumar Bhadada ◽  
Uma Nahar ◽  
Viral N. Shah ◽  
Anil Bhansali ◽  
...  

2005 ◽  
Vol 71 (7) ◽  
pp. 557-563 ◽  
Author(s):  
Carmen C. Solorzano ◽  
Theresa M. Lee ◽  
Marcela C. Ramirez ◽  
Denise M. Carneiro ◽  
George L. Irvin

With a secure diagnosis of hyperparathyroidism, preoperative localization of abnormal glands is the initial step toward limited parathyroidectomy (LPX). We investigated whether ultrasonography in the hands of the surgeon (SUS) could improve the localization of abnormal parathyroids when sestamibi scans (MIBI) were negative or equivocal. One hundred eighty patients with sporadic primary hyperparathyroidism (SPHPT) underwent preoperative SUS and MIBI scans before LPX guided by intraoperative parathormone assay. When the sestamibi scans were negative, SUS was used to localize the parathyroid, distinguish parathyroid from thyroid tissue, and to guide the intraoperative jugular venous sampling for differential elevation of parathyroid hormone (PTH). Operative findings, intraoperative hormone dynamics, and postoperative calcium levels determined successful localization. MIBI was negative or equivocal in 36/180 (20%) patients: 1) showed no parathyroid gland in 22 patients, 2) suggested an incorrect location for the abnormal gland in 9, and 3) was insufficient in recognizing multiglandular disease in 5. In these 36 patients, the addition of SUS led to the successful identification of the abnormal tissue in 19/36 (53%). In the remaining 17 patients with negative/equivocal scans, the parathyroid could not be clearly visualized by SUS. In these patients, SUS facilitated LPX by aiding preoperative transcutaneous jugular venous sampling for differentially elevated PTH (n = 3) and identifying questionable thyroid nodule versus parathyroid tissue (n = 1). Overall, SUS was useful in 23/36 (67%) patients with nonlocalizing MIBI scans, thus improving the rate of localization from 80 per cent to 93 per cent ( P < 0.01). Surgeon-performed cervical ultrasonography improved the localization of abnormal parathyroids by MIBI scan, adding to the success of limited parathyroidectomy.


2009 ◽  
Vol 75 (7) ◽  
pp. 579-583 ◽  
Author(s):  
Jyotirmay Sharma ◽  
Collin J. Weber

Isolated familial hyperparathyroidism (FHPT) not associated with multiple endocrine neoplasia is a rare and aggressive form of primary hyperparathyroidism. The traditional management of FHPT is a bilateral neck exploration with an increased rate of multigland hyperplasia, supernumerary glands, and recurrence. A prospective database was queried, which included 1383 consecutive parathyroidectomies between 1992 and 2008, and 28 patients with FHPT were identified. Patient demographics, pathology, intraoperative parathyroid hormone (IOPTH) kinetics, recurrence patterns, and accuracy of localization studies were analyzed. Twenty-one patients underwent bilateral neck explorations as an initial surgery, and seven patients had nine unilateral neck explorations for recurrent hyperparathyroidism. Overall cure rate was 89.2 per cent with a mean follow-up of 2.9 years (range: 6 months to 9.2 years); 64.3 per cent of patients had multigland disease. IOPTH helped identify supernumerary glands in three (12.5%) patients and accurately lateralized recurrent disease in eight of nine surgeries (88.8%). Tc-99m-Sestamibi failed to identify multigland disease in 11 patients (52.3%). FHPT has a greater prevalence of multigland disease, decreased utility of sestamibi scanning, and a higher recurrence rate than sporadic primary hyperparathyroidism. In FHPT, IOPTH is a useful adjunct in identifying additional tumors and in select cases may play a role in tumor localization.


Sign in / Sign up

Export Citation Format

Share Document