Fine needle aspiration of thyroid nodules in the pediatric population: a 12-year cyto-histological correlation experience at North Shore-Long Island Jewish Health System.

BACKGROUND: Diagnostic evaluation of thyroid nodules by FNA is used in the clinical management triage based on the knowledge of the rate of malignancy of each diagnostic category. The Bethesda System for Reporting Thyroid Cytopathology was published in 2007 by the National Cancer Institute (NCI). Using this classification, we studied our institution's experience in the pediatric population calculating the rate of malignancy for each diagnostic category, comparing our findings to our general patient population and that of the literature. METHODS: 13,312 thyroid FNAs were performed at our institution between 1998 and 2010. 282 cases were from patients under 19 years of age. We reviewed and reclassified these cases using the new NCI categories, and pursued cytology-surgical follow-up. RESULTS: Of the 282 FNA cases, 20.92% (59) were classified as unsatisfactory (U), 48.22, % (136) benign (B), 2.12% (6) Atypia of undetermined significance (AUS), 14.18% (40) suspicious for follicular neoplasm (FN), 2.12% (6) suspicious for malignancy (SM) and 12.41% (35) positive for malignancy (P). The U-category was further classified into nondiagnostic (ND) 12.41% (35) and cysts (C) 8.51% (24). Seventy-four children had surgical follow-up. The rates of histologically confirmed malignancy were 10% in U (1/10), 0% in B (0/17), 50% in AUS (2/4), 39% in FN (7/18), 100% in SM (4/4) and 100% in P (24/24) categories respectively. Among the U category, malignancy rate was 0% for the ND category and 25% for the C category. CONCLUSIONS: To our knowledge, this is the first study to apply the NCI categories to the pediatric population. The rate of malignancy in the U category was only seen in the specimens with cystic component. AUS and FN categories had a higher malignancy rate (50 and 39% respectively) as compared with that of the general population (15 and 30% respectively). Given that the rates of malignancy are higher for cysts and AUS, the literature recommendation to "follow-up and repeat" may not apply to the pediatric population. Surgery may be reasonable in these categories instead.

Role of fine needle aspiration in the diagnosis of the rare disease of langerhans cell histiocytosis in a child.

Langerhan's cell histiocytosis (LCH) results from the proliferation of immunophenotypically and functionally immature, morphologically rounded Langerhan's cells along with eosinophils, macrophages, lymphocytes, and, commonly, multinucleated giant cells. Here we report a case in a 6-year-old boy of differential diagnoses including dermatopathic lymphadenitis (DL), parasitic infection, Kimura's disease, hypersensitivity reactions, cat-scratch disease, sinus histiocytosis with massive lymphadenopathy (SHML), hyperplasic lymph nodes, and lymphoma.

Diagnosis of thymic clear cell carcinoma by cytology.

Clear cell carcinoma of the thymus is a rare tumor. Few cases of clear-cell carcinoma of thymus have been documented (Truong et al., 1990 and Wolfe III et al., 1983). All these cases were diagnosed by histopathological examination of the tissue. Diagnosis of thymic clear cell carcinoma on cytology is extremely challenging. Here we report the first case of thymic clear cell carcinoma diagnosed by cytological examination of the pericardial fluid with the help of immunocytochemistry. Differential diagnosis included adenocarcinoma, mesothelioma, and thymic clear cell carcinoma. Thymic carcinoma with clear cell features has an aggressive clinical behavior including our case, where it was already metastasized at the time of presentation.

HepPar-1 expression in primary lung adenocarcinoma.

OBJECTIVES: To study a subset of lung adenocarcinomas with aberrant HepPar-1 antigen expression. METHODS: We performed a clinicopathologic review of 16 cases. RESULTS: Of 241 primary lung adenocarcinomas tested for expression of the HepPar-1 antigen, 16 (6.6%) were positive. The cases occurred in older smokers with an equal sex distribution. Morphologically, these pulmonary adenocarcinomas had an acinar-predominant architecture, and prominent cribriform growth, with HepPar-1-expressing tumor cells being uniformly columnar with abundant bipolar lightly eosinophilic cytoplasm. HepPar-1 was coexpressed with thyroid transcription factor 1 in 94% of cases. No EGFR mutations were identified, while 31% of cases were positive for KRAS codon 12 mutations. CONCLUSIONS: Although aberrant HepPar-1 expression was frequently seen in tumors with visceral pleural and angiolymphatic invasion, its prognostic significance is uncertain.

Complex congenital heart defects in association with maternal diabetes and partial deletion of the A2BP1 gene.

In this article, we report a case of complex congenital heart disease in a female infant with maternal diabetes who eventually died of sepsis and post-surgical complications. The autopsy phenotypic findings and organ malformations are detailed. Genomic studies identified a 162 kb intragenic deletion of A2BP1 gene within chromosome band 16p13.2. To our knowledge, this is the first description of A2BP1 gene deletion in association with congenital heart anomalies. This case also demonstrates the effect of maternal diabetes on gene transcription and emphasizes the importance of scanning the human genome in neonates born with congenital anomalies.

Challenges to diagnose metaplastic carcinoma of the breast through cytologic methods: an eight-case series.

Because metaplastic carcinoma of the breast encompasses a great variety of histopathology, diagnostic challenges abound, especially within the realm of cytology. The authors compiled and studied an eight-case series comprised of metaplastic breast carcinomas and lesions initially suspicious cytologically for metaplastic carcinoma in order to assess the degree of cytologic-histologic correlation and to identify recurring problematic themes surrounding the cytology-based diagnosis of this neoplasm. The cytologic and histologic slides from eight cases suspicious for metaplastic breast carcinoma diagnosed by fine needle aspiration (FNA) were collected and analyzed through a seven-year retrospective search of case files at our institution. Based on cytologic characteristics, the cases were separated into three groups. Group 1 consisted of three cases presenting with poorly differentiated adenocarcinoma and squamoid components on FNA. Group 2 was composed of two cases that featured a monophasic, malignant ductal cell population on cytology, while the cytologic specimens for the third group of cases presented with a mesenchymal component with or without a malignant glandular constituent. Cytologic-histologic correlation was present in two of three cases demonstrating a mesenchymal component, and there was 100% sensitivity in the cytologic detection of those mesenchymal elements. However, in only one of three cases was there an accurate cytologic diagnosis of metaplastic carcinoma when squamoid changes were present on FNA. Both cases demonstrating only malignant glandular elements on cytologic specimens revealed an additional component of malignant squamous differentiation upon the examination of mastectomy-derived tissue.These results indicate that squamous-like changes identified on FNA should be interpreted with caution and that sampling error remains a problematic recurrence in cytology. Regardless, there appears to be promise concerning the accurate cytologic diagnosis of metaplastic carcinoma when the lesion is characterized by a mesenchymal component. A study implementing a larger case number is essential in determining the significance of these findings.

Total absence of ribs in a newborn with cerebrocostomandibular syndrome.

Total absence of ribs is a rare finding that has occasionally been documented in patients with cerebrocostomandibular syndrome. Only 2 other reports document complete absence of ribs in 3 individuals, and we tabulate the findings of all the 4 cases of complete absence of ribs in this case report. Our case and the other 3 reported cases represent the extreme form of cerebrocostomandibular syndrome with regard to the costal defects.