FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2782626708> ?p ?o ?g. }

• W2782626708 endingPage "46" @default.
• W2782626708 startingPage "35" @default.
• W2782626708 abstract "The gene CDC73 (previously known as HRPT2 ) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parathyroid carcinoma. Therefore loss of parafibromin expression by immunohistochemistry may triage genetic testing for hyperparathyroidism jaw tumor syndrome and be associated with malignant behavior in atypical parathyroid tumors. We share our experience that parafibromin-negative parathyroid tumors show distinctive morphology. We searched our institutional database for parathyroid tumors demonstrating complete loss of nuclear expression of parafibromin with internal positive controls. Forty-three parafibromin-negative tumors from 40 (5.1%) of 789 patients undergoing immunohistochemistry were identified. Thirty-three (77%) were external consultation cases; the estimated incidence in unselected tumors was 0.19%. Sixteen (37.2%) fulfilled World Health Organization 2017 criteria for parathyroid carcinoma and 63% had serum calcium greater than 3mmol/L. One of 27 (3.7%) noninvasive but parafibromin-negative tumors subsequently metastasized. Parafibromin-negative patients were younger (mean, 36 vs. 63 y; P <0.001) and had larger tumors (mean, 3.04 vs. 0.62 g; P <0.001). Not all patients had full testing, but 26 patients had pathogenic CDC73 mutation/deletions confirmed in tumor (n=23) and/or germline (n=16). Parafibromin-negative tumors demonstrated distinctive morphology including extensive sheet-like rather than acinar growth, eosinophilic cytoplasm, nuclear enlargement with distinctive coarse chromatin, perinuclear cytoplasmic clearing, a prominent arborizing vasculature, and, frequently, a thick capsule. Microcystic change was found in 21 (48.8%). In conclusion, there are previously unrecognized morphologic clues to parafibromin loss/ CDC73 mutation in parathyroid tumors which, given the association with malignancy and syndromic disease, are important to recognize." @default.
• W2782626708 created "2018-01-26" @default.
• W2782626708 creator A5002090404 @default.
• W2782626708 creator A5005778488 @default.
• W2782626708 creator A5015490244 @default.
• W2782626708 creator A5018954222 @default.
• W2782626708 creator A5024862063 @default.
• W2782626708 creator A5026034371 @default.
• W2782626708 creator A5032567530 @default.
• W2782626708 creator A5033101313 @default.
• W2782626708 creator A5037367588 @default.
• W2782626708 creator A5037493005 @default.
• W2782626708 creator A5041056556 @default.
• W2782626708 creator A5041064321 @default.
• W2782626708 creator A5045334444 @default.
• W2782626708 creator A5051055093 @default.
• W2782626708 creator A5052981522 @default.
• W2782626708 creator A5062735599 @default.
• W2782626708 creator A5063926905 @default.
• W2782626708 creator A5066999906 @default.
• W2782626708 creator A5068067115 @default.
• W2782626708 creator A5078945614 @default.
• W2782626708 creator A5085808058 @default.
• W2782626708 creator A5085824267 @default.
• W2782626708 creator A5088412047 @default.
• W2782626708 date "2019-01-01" @default.
• W2782626708 modified "2023-10-18" @default.
• W2782626708 title "Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features" @default.
• W2782626708 cites W1588731357 @default.
• W2782626708 cites W1933063061 @default.
• W2782626708 cites W1964811088 @default.
• W2782626708 cites W1966118044 @default.
• W2782626708 cites W1968933197 @default.
• W2782626708 cites W1969466720 @default.
• W2782626708 cites W1976928374 @default.
• W2782626708 cites W1981271304 @default.
• W2782626708 cites W1990033391 @default.
• W2782626708 cites W1998142538 @default.
• W2782626708 cites W2005203449 @default.
• W2782626708 cites W2009526192 @default.
• W2782626708 cites W2013043796 @default.
• W2782626708 cites W2021131253 @default.
• W2782626708 cites W2038954852 @default.
• W2782626708 cites W2042392656 @default.
• W2782626708 cites W2045145679 @default.
• W2782626708 cites W2060896896 @default.
• W2782626708 cites W2069772984 @default.
• W2782626708 cites W2076430807 @default.
• W2782626708 cites W2077370216 @default.
• W2782626708 cites W2078062201 @default.
• W2782626708 cites W2089187197 @default.
• W2782626708 cites W2097419174 @default.
• W2782626708 cites W2100815977 @default.
• W2782626708 cites W2104235396 @default.
• W2782626708 cites W2108828245 @default.
• W2782626708 cites W2115054276 @default.
• W2782626708 cites W2117513049 @default.
• W2782626708 cites W2126079832 @default.
• W2782626708 cites W2139234044 @default.
• W2782626708 cites W2145494417 @default.
• W2782626708 cites W2147037681 @default.
• W2782626708 cites W2152117476 @default.
• W2782626708 cites W2158942386 @default.
• W2782626708 cites W2163571202 @default.
• W2782626708 cites W2166069686 @default.
• W2782626708 cites W2191419435 @default.
• W2782626708 cites W2299661034 @default.
• W2782626708 cites W2411700959 @default.
• W2782626708 cites W2499214176 @default.
• W2782626708 cites W2599486266 @default.
• W2782626708 cites W2621819549 @default.
• W2782626708 cites W2727107256 @default.
• W2782626708 cites W2761730374 @default.
• W2782626708 cites W574932311 @default.
• W2782626708 doi "https://doi.org/10.1097/pas.0000000000001017" @default.
• W2782626708 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6296846" @default.
• W2782626708 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29324469" @default.
• W2782626708 hasPublicationYear "2019" @default.
• W2782626708 type Work @default.
• W2782626708 sameAs 2782626708 @default.
• W2782626708 citedByCount "67" @default.
• W2782626708 countsByYear W27826267082018 @default.
• W2782626708 countsByYear W27826267082019 @default.
• W2782626708 countsByYear W27826267082020 @default.
• W2782626708 countsByYear W27826267082021 @default.
• W2782626708 countsByYear W27826267082022 @default.
• W2782626708 countsByYear W27826267082023 @default.
• W2782626708 crossrefType "journal-article" @default.
• W2782626708 hasAuthorship W2782626708A5002090404 @default.
• W2782626708 hasAuthorship W2782626708A5005778488 @default.
• W2782626708 hasAuthorship W2782626708A5015490244 @default.
• W2782626708 hasAuthorship W2782626708A5018954222 @default.
• W2782626708 hasAuthorship W2782626708A5024862063 @default.
• W2782626708 hasAuthorship W2782626708A5026034371 @default.
• W2782626708 hasAuthorship W2782626708A5032567530 @default.
• W2782626708 hasAuthorship W2782626708A5033101313 @default.
• W2782626708 hasAuthorship W2782626708A5037367588 @default.
• W2782626708 hasAuthorship W2782626708A5037493005 @default.

• next