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ey0015.3-11 | Pediatric thyroid cancer | ESPEYB15

3.11 DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma

JD Wasserman , N Sabbaghian , S Fahiminiya , R Chami , O Mete , M Acker , MK Wu , A Shlien , L de Kock , WD Foulkes

To read the full abstract: J Clin Endocrinol Metab 2018;103:2009-2015Thyroid cancer in children and adolescents has a higher rate of regional and distant metastases, and recurrence rate than in adults. However, little is known about the molecular origin of thyroid carcinoma in children. DICER1 encodes for an endoribonuclease responsible for processing RNA into s...

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ey0018.1-15 | Clinical/Translational | ESPEYB18

1.15. Clinical outcomes and complications of pituitary blastoma

APY Liu , MM Kelsey , N Sabbaghian , SH Park , CL Deal , AJ Esbenshade , O Ploner , A Peet , H Traunecker , YHE Ahmed , M Zacharin , A Tiulpakov , AM Lapshina , AW Walter , P Dutta , A Rai , M Korbonits , L de Kock , KE Nichols , WD Foulkes , JR Priest

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

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ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:14791490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

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ESPE Yearbook of Paediatric Endocrinology

3.11 DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma

1.15. Clinical outcomes and complications of pituitary blastoma

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

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