Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Melissa A BurykSelma Feldman Witchel

Abstract

Papillary thyroid carcinoma (PTC) is rare in children, although it is a known secondary malignancy after treatment for neuroblastoma (NB). The interval between NB treatment completion and PTC is usually more than 5 years. A 4-year-old, female patient with a high risk adrenal NB was found to have a 2.9-cm, right thyroid nodule on surveillance chest computed tomography (CT) 6 months after completion of her NB treatment (induction chemotherapy, tumor resection, autologous stem cell transplantation, external beam radiation to the abdominal tumor site, immunotherapy, and retinoic acid). Posttreatment surveillance included iodine-123-metaiodobenzylguanidine scans and CT scans. Fine-needle aspiration of the thyroid nodule diagnosed a follicular neoplasm, which was negative for BRAF, NRAS, KRAS, HRAS, PAX8/PPARg, and RET/PTC mutations, without evidence of metastatic NB. Nodule histology demonstrated an encapsulated follicular variant of PTC (FVPTC). Next-generation sequence analysis for a 46 cancer-gene profile was performed on both tumors with subsequent peripheral blood DNA testing. A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. This mutation was also detected in peripheral blood mononuclea...Continue Reading

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Citations

Dec 15, 2015·Endocrine Pathology·Shuanzeng WeiZubair W Baloch
Sep 15, 2015·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jennifer PicarsicYuri Nikiforov
Mar 12, 2018·Surgery Today·Yohei KojimaMasanori Sugiyama
Jan 6, 2017·Oncotarget·Yanna CaoQiang Zhao
Apr 20, 2017·Oncotarget·Elena SanmartínJaime Font de Mora
Jan 17, 2020·Cancers·Holly A MartinsonMatthew J Olnes
Dec 13, 2018·Hormone Research in Pædiatrics·Steven G Waguespack
Dec 1, 2020·Case Reports in Gastroenterology·Yohei KojimaNobutsugu Abe

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