FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387404875> ?p ?o ?g. }

• W4387404875 abstract "Abstract Disclosure: E. Chuki: None. M. Raffeld: None. J. Klubo-Gwiezdzinska: None. S. Gubbi: None. S. Jha: None. Introduction: Multiple endocrine neoplasia (MEN1) syndrome is caused by germline variants in MEN1. Papillary Thyroid Cancer (PTC) is not regarded as a canonical MEN1-related endocrine tumor. Pathogenic variants in MEN1 are rare in PTC. Herein, we report an MEN1 patient with biallelic loss of MEN1 in PTC.Clinical case: A 59-year-old Hispanic female presented with asymptomatic hypercalcemia due to primary hyperparathyroidism [serum calcium: 13.9 mg/dl (8.4-10.2), PTH: 314 pg/ml (15-65) and 25 hydroxy vitamin D: 15 ng/ml (33 – 100)]. Physical examination was unrevealing for any neck mass or lymph nodes. Kidney function was normal with no history of or imaging evidence of kidney stones or calculi. Bone densitometry revealed osteoporosis [lowest T-score of -2.7 in spine]. Germline genetic testing was performed given large size of the parathyroid tumor and biochemical presentation suspicious for parathyroid cancer. A pathogenic MEN1 p.Ile54Serfs*65 was identified. A neck sonogram and 99-technetium sestamibi scan showed a 4.1 cm left parathyroid adenoma and incidental 3.5 cm, heterogeneous right thyroid lobe nodule having smooth margins without microcalcifications, and no cervical lymphadenopathy. Thyroid function studies were normal. Fine needle aspiration of right thyroid nodule revealed epithelial neoplasia containing many atypical cells with enlarged nuclei, nuclear grooves, fine chromatin, and moderate amounts of granular to oxyphilic cytoplasm. Patient underwent left inferior parathyroidectomy and right thyroid lobectomy. Histology was consistent with parathyroid adenoma and a hyperplastic adenomatous thyroid nodule with a 1.1 cm focus of classic PTC with minor follicular and oncocytic components, limited to the thyroid with clear margins and no lymphovascular invasion (pT1bNxMx). Genetic sequencing of the PTC (TSO500 gene panel) revealed two pathogenic frameshift variants in MEN1 p.I54fs*65 and p.D33fs*82 at variant allele frequency (VAF) of 53% and 42% respectively, TERT promoter (TERTp) variant [C228T (c.-124C&gt;T)] at VAF of 44.8% and an NRAS p.Q61K variant at VAF of 39%. The two MEN1 variants were in trans to each other on opposite alleles, suggestive of a second-hit leading to a loss of biallelic function of MEN1.Conclusion: PTC in MEN1 has been rarely reported in the literature [1]. However, per our knowledge, this is the first report of a PTC with second-hit in the MEN1 gene. Somatic MEN1 pathogenic variants have been reported in occasional cases of thyroid oncocytic tumors and NRAS is more frequently associated with follicular or oncocytic thyroid tumors. Thus, whether this tumor should be regarded as a rare manifestation of the MEN1 syndrome is unclear. The histopathologic and molecular characteristics of thyroid tumors in MEN1 warrant further investigation. Reference: 1. Desai et al. Ann Surg Oncol 2001;8(4):342-6. Presentation Date: Saturday, June 17, 2023" @default.
• W4387404875 created "2023-10-07" @default.
• W4387404875 creator A5024701461 @default.
• W4387404875 creator A5031402469 @default.
• W4387404875 creator A5050178679 @default.
• W4387404875 creator A5080099460 @default.
• W4387404875 creator A5088100212 @default.
• W4387404875 date "2023-10-01" @default.
• W4387404875 modified "2023-10-07" @default.
• W4387404875 title "SAT556 An Unusual Case of Papillary Thyroid Carcinoma With Biallelic MEN1 Variants In a Patient With MEN1" @default.
• W4387404875 doi "https://doi.org/10.1210/jendso/bvad114.2027" @default.
• W4387404875 hasPublicationYear "2023" @default.
• W4387404875 type Work @default.
• W4387404875 citedByCount "0" @default.
• W4387404875 crossrefType "journal-article" @default.
• W4387404875 hasAuthorship W4387404875A5024701461 @default.
• W4387404875 hasAuthorship W4387404875A5031402469 @default.
• W4387404875 hasAuthorship W4387404875A5050178679 @default.
• W4387404875 hasAuthorship W4387404875A5080099460 @default.
• W4387404875 hasAuthorship W4387404875A5088100212 @default.
• W4387404875 hasBestOaLocation W43874048751 @default.
• W4387404875 hasConcept C104317684 @default.
• W4387404875 hasConcept C126322002 @default.
• W4387404875 hasConcept C142724271 @default.
• W4387404875 hasConcept C2775945674 @default.
• W4387404875 hasConcept C2779053571 @default.
• W4387404875 hasConcept C2779469564 @default.
• W4387404875 hasConcept C2779761222 @default.
• W4387404875 hasConcept C2780103800 @default.
• W4387404875 hasConcept C2780273267 @default.
• W4387404875 hasConcept C2781461381 @default.
• W4387404875 hasConcept C46699223 @default.
• W4387404875 hasConcept C526584372 @default.
• W4387404875 hasConcept C55493867 @default.
• W4387404875 hasConcept C71315377 @default.
• W4387404875 hasConcept C71924100 @default.
• W4387404875 hasConcept C86803240 @default.
• W4387404875 hasConcept C90924648 @default.
• W4387404875 hasConceptScore W4387404875C104317684 @default.
• W4387404875 hasConceptScore W4387404875C126322002 @default.
• W4387404875 hasConceptScore W4387404875C142724271 @default.
• W4387404875 hasConceptScore W4387404875C2775945674 @default.
• W4387404875 hasConceptScore W4387404875C2779053571 @default.
• W4387404875 hasConceptScore W4387404875C2779469564 @default.
• W4387404875 hasConceptScore W4387404875C2779761222 @default.
• W4387404875 hasConceptScore W4387404875C2780103800 @default.
• W4387404875 hasConceptScore W4387404875C2780273267 @default.
• W4387404875 hasConceptScore W4387404875C2781461381 @default.
• W4387404875 hasConceptScore W4387404875C46699223 @default.
• W4387404875 hasConceptScore W4387404875C526584372 @default.
• W4387404875 hasConceptScore W4387404875C55493867 @default.
• W4387404875 hasConceptScore W4387404875C71315377 @default.
• W4387404875 hasConceptScore W4387404875C71924100 @default.
• W4387404875 hasConceptScore W4387404875C86803240 @default.
• W4387404875 hasConceptScore W4387404875C90924648 @default.
• W4387404875 hasIssue "Supplement_1" @default.
• W4387404875 hasLocation W43874048751 @default.
• W4387404875 hasOpenAccess W4387404875 @default.
• W4387404875 hasPrimaryLocation W43874048751 @default.
• W4387404875 hasRelatedWork W1989146112 @default.
• W4387404875 hasRelatedWork W1996178263 @default.
• W4387404875 hasRelatedWork W2012418664 @default.
• W4387404875 hasRelatedWork W2035592808 @default.
• W4387404875 hasRelatedWork W2066956069 @default.
• W4387404875 hasRelatedWork W2162942974 @default.
• W4387404875 hasRelatedWork W2163167150 @default.
• W4387404875 hasRelatedWork W2255658708 @default.
• W4387404875 hasRelatedWork W2295571326 @default.
• W4387404875 hasRelatedWork W4377010874 @default.
• W4387404875 hasVolume "7" @default.
• W4387404875 isParatext "false" @default.
• W4387404875 isRetracted "false" @default.
• W4387404875 workType "article" @default.