Browsing by Subject "thyroid"

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    Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
    (MDPI, 2018-06) Wintergerst, Kupper A.; Eugster, Erica; Andruszewski, Karen; Kleyn, Mary; Vanderburg, Nancy; Sockalosky, Joe; Menon, Ram; Linard, Sharon; Kingery, Suzanne; Rose, Susan R.; Moore, Julie; Gembel, Gina; Gorman, Lisa; Pediatrics, School of Medicine
    To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH.
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    Detection of BRAF Mutations on Direct Smears of Thyroid Fine Needle Aspirates through Cell Transfer Technique
    (Oxford, 2015-04) Shi, Qiuying; Ibrahim, Ashley; Herbert, Kristi; Carvin, Marcia; Randolph, Melissa; Post, Kristin M.; Curless, Kendra; Chen, Shaoxiong; Cramer, Harvey M.; Cheng, Liang; Wu, Howard H.; Department of Pathology and Laboratory Medicine, IU School of Medicine
    Objectives: To determine the utility of the cell transfer technique (CTT) for BRAF molecular testing on thyroid fine-needle aspiration (FNA) specimens. Methods: Polymerase chain reaction (PCR)–based BRAF molecular testing was performed on tissues obtained through CTT from both air-dried and ethanol-fixed direct smears of thyroid FNA specimens and then compared with the corresponding thyroidectomy formalin-fixed, paraffin-embedded (FFPE) tissues on 30 cases. Results: BRAF testing was successfully performed on 29 of 30 air-dried CTT, 27 of 30 ethanol-fixed CTT, and 27 of 30 FFPE tissues. The results exhibited 11, 13, and 13 BRAF mutations and 18, 14, and 14 wild types for the air-dried CTT, the ethanol-fixed CTT, and the FFPE tissues, respectively. The concordance rate was 96% between air-dried and ethanol-fixed CTT tissues, 88% between air-dried CTT and FFPE tissues, and 92% between ethanol-fixed CTT and FFPE tissues. Conclusions: PCR-based BRAF mutational testing can be reliably performed on the direct smears of the thyroid FNA specimens through the application of CTT.
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    Fine-Needle Aspirates of Thyroid Microcarcinoma
    (Elsevier, 2017) Partyka, Kristen L.; Wu, Howard H.; Department of Pathology and Laboratory Medicine, School of Medicine
    Introduction Widespread use of ultrasound allows for detection of smaller thyroid nodules and preoperative evaluation with fine-needle aspiration (FNA). Both incidental and non-incidental microcarcinoma can be found, leading to uncertainty with clinical management. Materials and methods A retrospective analysis of thyroid FNAs performed at our institution was conducted for the 5-year period from 2010 to 2014. Aspirates were categorized using the Bethesda System for Reporting Thyroid Cytopathology. Cytologic diagnoses were then correlated with final histopathology. Among samples with malignancy on surgical resection, nodules were stratified by size. Results A total of 2531 thyroid FNAs were identified; 587 samples had histologic correlation, and 259 malignancies were reported. They were separated into nodules >1 cm (n = 144, 56%) and ≤1 cm (n = 115, 44%). Microcarcinoma was further subdivided into incidental (size ≤0.5 cm, n = 55, 48%) and non-incidental (size >0.5 cm and ≤1 cm, n = 60, 52%). The preoperative cytologic diagnoses for incidental microcarcinoma were: benign (B, n = 11, 20%), follicular lesion of undetermined significance (FLUS, n = 15, 27%), follicular neoplasm (FN, n = 11, 20%), suspicious for malignancy (SM, n = 7, 13%), malignant (M, n = 8, 15%), and nondiagnostic (ND, n = 3, 5%). The FNA categories for non-incidental microcarcinoma were: B (n = 13, 22%), FLUS (n = 3, 5%), FN (n = 3, 5%), SM (n = 10, 17%), M (n = 29, 48%), and ND (n = 2, 3%). Conclusions Incidental microcarcinoma is not an uncommon entity, making up 21% (55 of 259) of malignant nodules on thyroidectomy. Indeterminate diagnoses (FLUS + FN + SM) accounted for the majority (60%) of preoperative FNAs for incidental microcarcinoma, compared with 27% for those of non-incidental microcarcinoma (P < 0.05, χ2 test).
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    Histologic and Clinical Follow-up of Thyroid Fine Needle Aspirates in Pediatric Patients
    (Wiley, 2016-07) Partyka, Kristen; Huang, Eric C.; Cramer, Harvey; Chen, Shaoxiong; Wu, Howard H.; Department of Pathology and Laboratory Medicine, IU School of Medicine
    BACKGROUND Although fine-needle aspiration (FNA) has an important role in evaluating thyroid nodules in adults, there is little published information regarding its utility in the pediatric population. METHODS A retrospective analysis of thyroid FNAs for patients who were 18 years old or younger at 2 institutions was conducted. Aspirates were retrospectively categorized with the Bethesda System for Reporting Thyroid Cytopathology. These diagnoses were then correlated with either final histopathology or clinical follow-up. RESULTS A total of 186 thyroid FNA samples from 154 patients (122 females and 32 males), who ranged in age from 9 months to 18 years (median, 16 years; mean, 14 years), were identified. FNA was performed to evaluate 1 to 3 nodules for each patient. Aspirates were classified as follows: nondiagnostic (n = 27), benign (n = 114), atypia of undetermined significance (AUS; n = 21), follicular neoplasm (FN; n = 8), suspicious for malignancy (n = 3), and malignant (n = 13). Sixty-one samples had a histologic correlation, 68 were followed clinically for ≥2 years, and 57 either had no follow-up or were followed for <2 years. For statistical purposes, FNA diagnoses of suspicious and malignant were considered positive, and benign lesions were considered negative. The accuracy was 99%, and the sensitivity and specificity were 94% and 100%, respectively. The risk of malignancy, not including papillary microcarcinoma, was 2% for benign aspirates, 21% for AUS, 57% for FN, and 100% for suspicious or malignant aspirates. CONCLUSIONS This analysis demonstrates that FNA is a sensitive and highly specific modality for evaluating thyroid nodules in pediatric patients. Each diagnostic category can facilitate communication and guide appropriate management.