|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>Parathyroid carcinoma.</i> Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, non-functioning parathyroid carcinomas are also rarely described in individuals with a <i>CDC73-</i>related disorder.
|
29692167 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Parafibromin, the protein product of the HRPT2 gene responsible for hyperparathyroidism-jaw tumor syndrome, has been implicated in the development of sporadic parathyroid carcinomas and loss of immunohistochemical expression of this protein has been suggested to be of value in making the diagnosis of parathyroid carcinoma.
|
18684024 |
2008 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the hyperparathyroidism-jaw tumour syndrome, which is associated with renal and uterine tumours.
|
19522828 |
2009 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors.
|
21360064 |
2011 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CDC73 mutations were detected in 9/19 (47%) PC samples.
|
30362515 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A case of pediatric parathyroid carcinoma associated with haploinsufficiency of CDC73 is discussed.
|
26650250 |
2016 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with FIHP, due to adenomas, atypical adenomas, and parathyroid carcinomas.
|
24823466 |
2014 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.
|
30361844 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Absence of parafibromin nuclear staining was noted in 8/12 (67 %) CA, 2/13 (15 %) AA, and 3/17 (18 %) TA tumors.
|
22987117 |
2012 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Absence of parafibromin staining was a factor that influenced PC recurrence.
|
30865538 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unacceptable recurrence/persistence rate (80%) associated with increasingly difficult re-operations and risk of parathyroid carcinoma in the setting of germline mutations of HRPT2 gene with familial hyperparathyroidism suggest that a more aggressive operative approach should be undertaken in these patients.
|
18436011 |
2008 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
|
20052758 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant.
|
14585940 |
2003 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant.
|
14585940 |
2003 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Complete loss of APC immunoreactivity and reduced expression of parafibromin was evident in two of the atypical adenomas and in the parathyroid carcinoma.
|
20473645 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Different authors report a parafibromin and adenomatous polyposis coli (APC) loss or reduction in PC cases.
|
27490759 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
|
14715834 |
2004 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.
|
23293331 |
2013 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genomic alterations identified in PC are mostly represented by CDC73 gene mutations, codifying for a loss-of-function protein termed parafibromin.
|
30641523 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA analysis for HRPT2/CDC73 mutation is recommended in all patients with parathyroid cancer because of the potential benefit for first-degree relatives, who should nevertheless undergo serum calcium screening.
|
21167377 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Histopathological characteristics of PC compared to PA are increased mitotic activity (p= .001), chief cells (p = .003), diffuse growth pattern (p < .001), higher Ki67 (p< .001) and negative parafibromin (p < .001).
|
28362521 |
2017 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, proponents have found immunohistochemistry for parafibromin useful to definitively confirm a pathological diagnosis of parathyroid carcinoma, predict a worse outcome in definite parathyroid carcinomas, triage formal genetic testing for HPT-JT syndrome, and predict the outcome of histologically atypical parathyroid adenomas.
|
24402736 |
2014 |