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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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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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ey0021.8-10 | Important for Clinical Practice | ESPEYB21

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

D Taieb , S Nolting , ND Perrier , M Fassnacht , JA Carrasquillo , AB Grossman , R Clifton-Bligh , GB Wanna , ZG Schwam , L Amar , I Bourdeau , RT Casey , J Crona , CL Deal , J Del Rivero , QY Duh , G Eisenhofer , T Fojo , HK Ghayee , AP Gimenez-Roqueplo , AJ Gill , R Hicks , A Imperiale , A Jha , MN Kerstens , RR de Krijger , A Lacroix , I Lazurova , FI Lin , C Lussey-Lepoutre , ER Maher , O Mete , M Naruse , N Nilubol , M Robledo , F Sebag , NS Shah , A Tanabe , GB Thompson , HJLM Timmers , J Widimsky , Jr Young WJ , L Meuter , JWM Lenders , K Pacak

Brief Summary: The management of phaeochromocytomas and paragangliomas in patients with pathogenic variants of succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene is complex. An international group of experts performed a critical review of the evidence to produce this consensus statement to assist clinical decision-making.Comment: Pathogenic variants in succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene ...

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ESPE Yearbook of Paediatric Endocrinology

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

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

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