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ey0019.3-15 | Paediatric thyroid cancer | ESPEYB19

3.15. Association between radioactive iodine treatment for pediatric and young adulthood differentiated thyroid cancer and risk of second primary malignancies

E Pasqual , S Schonfeld , LM Morton , D Villoing , C Lee , de Gonzalez A Berrington , CM Kitahara

J Clin Oncol. 2022 May 1;40(13):1439-1449. doi: 10.1200/JCO.21.01841. Epub 2022 Jan 19. PMID: 35044839Brief Summary: This retrospective study showed that children and young adults (< 45 years) treated with radioactive iodine (RAI) for primary Differentiated Thyroid Cancer (DTC) have increased risks for leukemia and solid cancers, particularly beyond 20 years after treatment.<p class="abs...

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ey0021.14-15 | Bone | ESPEYB21

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

Marom Ronit , Zhang Bo , Washington Megan E. , Song I-Wen , Burrage Lindsay C. , Rossi Vittoria C. , Berrier Ava S. , Lindsey Anika , Lesinski Jacob , Nonet Michael L. , Chen Jian , Baldridge Dustin , Silverman Gary A. , Sutton V. Reid , Rosenfeld Jill A. , Tran Alyssa A. , Hicks M. John , Murdock David R. , Dai Hongzheng , Weis MaryAnn , Jhangiani Shalini N. , Muzny Donna M. , Gibbs Richard A. , Caswell Richard , Pottinger Carrie , Cilliers Deirdre , Stals Karen , Undiagnosed Diseases Network , Eyre David , Krakow Deborah , Schedl Tim , Pak Stephen C. , Lee Brendan H.

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...

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ESPE Yearbook of Paediatric Endocrinology

3.15. Association between radioactive iodine treatment for pediatric and young adulthood differentiated thyroid cancer and risk of second primary malignancies

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

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