Pathologic Characteristics, Natural History, and Prognostic Implications of BRAFV600E Mutation in Pediatric Papillary Thyroid Carcinoma

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Steven HardeeRaffaella A Morotti

Abstract

The BRAFV600E mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood. The aim of this retrospective study was to examine the histologic characteristics and clinical outcomes of BRAF positive pediatric PTC at a single institution. A 12-year retrospective review of all thyroidectomies performed at a tertiary medical center identified 59 pediatric cases with a surgical pathology diagnosis of PTC. Fifty patients had BRAFV600E mutation analysis data and were selected for further study. BRAFV600E mutations were present in 48% of cases (n = 24) and absent in 52% (n = 26). The molecular characteristics of the BRAF negative cases will further be evaluated in future studies. BRAF positive cases occurred in patients who were on average older than the BRAF negative patients. Classic histology PTC was pre...Continue Reading

References

May 7, 2005·Thyroid : Official Journal of the American Thyroid Association·Karen PenkoGary Francis
Aug 6, 2005·Journal of Pediatric Surgery·Brian A PalmerChristopher R Moir
Mar 14, 2008·Trends in Endocrinology and Metabolism : TEM·Efisio PuxedduDiego Russo
Feb 26, 2009·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Lindsey EnewoldSusan S Devesa
Oct 29, 2009·Thyroid : Official Journal of the American Thyroid Association·UNKNOWN American Thyroid Association (ATA) Guidelines Taskforce on Thyroid Nodules and Differentiated Thyroid CancerR Michael Tuttle
May 17, 2011·Thyroid : Official Journal of the American Thyroid Association·Adebowale J AdeniranDavid C Chhieng
Mar 1, 2012·Expert Review of Molecular Diagnostics·James Ziai, Pei Hui
May 19, 2012·Cancer Cytopathology·Sara E MonacoYuri E Nikiforov
May 21, 2013·Thyroid : Official Journal of the American Thyroid Association·Jane BernsteinManju L Prasad
Oct 19, 2013·The Journal of Clinical Investigation·Julio C Ricarte-FilhoJames A Fagin
Dec 12, 2013·Cancer·Rebecca J Leeman-NeillYuri E Nikiforov
Jan 18, 2014·Autoimmunity Reviews·P CaturegliN R Rose
Feb 20, 2014·Virchows Archiv : an International Journal of Pathology·Renu K VirkManju L Prasad
Feb 22, 2014·JAMA Otolaryngology-- Head & Neck Surgery·Louise Davies, H Gilbert Welch
Apr 23, 2015·Thyroid : Official Journal of the American Thyroid Association·Gary L FrancisUNKNOWN American Thyroid Association Guidelines Task Force
Sep 15, 2015·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Leomar Y BallesterDolores H López-Terrada
Sep 15, 2015·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jennifer PicarsicYuri Nikiforov
Dec 10, 2015·Thyroid : Official Journal of the American Thyroid Association·Maria Eleni NikitaRon S Newfield
Feb 26, 2016·Archives of Pathology & Laboratory Medicine·Ryan J GertzRicardo V Lloyd

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Citations

Aug 23, 2017·International Journal of Molecular Sciences·Dagmara RusinekBarbara Jarzab
Aug 28, 2018·Indian Journal of Cancer·Ravishankar PalaniappanR Krishna Kumar
Sep 22, 2019·Genes·Vera A PaulsonDouglas S Hawkins
Oct 8, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Dhritiman ChakrabortyChandrasekhar Bal
Jan 1, 2021·The Journal of Clinical Endocrinology and Metabolism·Marloes NiesSteven G Waguespack
Mar 13, 2021·Surgical Oncology Clinics of North America·Emily Christison-Lagay, Reto M Baertschiger
May 13, 2021·Journal of Radiation Research·Norisato Mitsutake, Vladimir Saenko
Aug 29, 2021·Pediatric Blood & Cancer·Adeline T YangPatrick J Leavey

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