title: Preoperative cytology with molecular analysis to help guide surgery for pediatric thyroid nodules.
abstract: OBJECTIVE
  To discuss the use of molecular mutation analysis in the surgical management of pediatric thyroid nodules.
  
  
  METHODS
  This study is a case series with retrospective chart review performed at a tertiary children's hospital. Pediatric patients who presented to the Children's Hospital of Pittsburgh of UPMC with a thyroid nodule and had subsequent fine needle aspiration with positive molecular mutation between November 2009 and February 2012 were identified and charts were reviewed. Patient demographics, presenting signs, lab results, pathologic findings, and surgical outcomes were collected.
  
  
  RESULTS
  5 pediatric patients with positive molecular mutation studies on preoperative FNA were identified. FNA results were categorized as follows: suspicious for follicular neoplasm (n = 2), suspicious for malignant cells (n = 1), and positive for malignant cells (n = 2). The following molecular mutations were identified: BRAF (V600E) (n = 2), PAX8/PPARγ (n = 1), HRAS (n = 1), and RET/PTC (n = 1). A total thyroidectomy was performed on each patient. In all cases the final pathology was positive for malignancy (papillary thyroid carcinoma (PTC), n = 3; follicular variant of PTC, n = 2). Three of five patients had transient postsurgical hypocalcemia. There were no other postoperative complications.
  
  
  CONCLUSIONS
  This series provides evidence that preoperative FNA with reflex molecular testing in pediatric thyroid nodules can help guide surgical decision making, reduce the need for repeat surgeries, and diminish the risk of complications from a staged procedure.
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Children's Hospital of, Pittsburgh of UPMC, Pittsburgh, PA, United States. Electronic address: melissa.buryk@chp.edu.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Buryk
authors.forename: Sara E
authors.initials: SE
authors.lastname: Monaco
authors.forename: Selma F
authors.initials: SF
authors.lastname: Witchel
authors.forename: Deepak K
authors.initials: DK
authors.lastname: Mehta
authors.forename: Nursen
authors.initials: N
authors.lastname: Gurtunca
authors.forename: Yuri E
authors.initials: YE
authors.lastname: Nikiforov
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Simons
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000293:Adolescent; D044963:Biopsy, Fine-Needle; D002648:Child; D003581:Cytodiagnosis / Q000379:methods; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods; D006776:Hospitals, Pediatric; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D011300:Preoperative Care / Q000379:methods; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics; D012189:Retrospective Studies; D018570:Risk Assessment; D012494:Sampling Studies; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D016606:Thyroid Nodule / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D013965:Thyroidectomy / Q000009:adverse effects / Q000379:methods; D016896:Treatment Outcome
chemical_list: D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)
keywords: Fine-needle aspiration; Molecular mutation; Pediatric; Thyroid cancer; Thyroid nodule; Thyroidectomy