Reliability of the ultrasound classification system of thyroid nodules in predicting malignancy

Aim: This study aims to evaluate the reliability of theUltrasound (U) Classification system in predicting thyroidmalignancy by using pathology diagnosis as the referencestandard.Methods: It was a cross-sectional study carried out atUniversiti Kebangsaan Malaysia Medical Centre (UKMMC),Malaysia. Records of patients with focal thyroid nodules onultrasound (US) for which US-guided fine needle aspirationcytology (FNAC) was performed and pathology results wereavailable, from January 2014 to May 2016 were selected forreview. Correlation of the U Classification with pathologyresults was assessed. Sensitivity, specificity, positivelikelihood ratio, negative likelihood ratio, predictive value,negative predictive value and accuracy were calculated in aconservative and non-conservative method. The thresholdfor statistical performance was set at 0.05. Eachsonographic feature was also compared with its pathologyresults.Results: A total of 91 patients with 104 nodules were eligible.12 nodules out of 104 (11.5%) were malignant. Thesensitivity, specificity, positive likelihood ratio, negativelikelihood ratio, positive predictive value, negativepredictive value and accuracy were 100%, 91.3%, 11.5, 0.0,60%, 100% and 92.3%, and 100%, 91.4%, 11.7%, 0.0, 78.6%,100% and 93.5%, for the non-conservative and conservativemethod of calculations respectively.Conclusion: The U Classification is reliable in predictingthyroid malignancy. More evidence is neverthelessnecessary for widespread adaptation and use.

Hurthle cells in fine needle aspiration cytology of the thyroid: a potential diagnostic dilemma?

Hurthle cells are not uncommonly encountered in thyroid fine needle aspiration cytology (FNAC) smears. They are easily recognized by their distinct cytomorphology in cytological preparations, i.e. large, polygonal cells displaying uniform, rounded nuclei, often prominent nucleoli and abundant granular cytoplasm. Hurthle cells can be seen in both non-neoplastic and neoplastic thyroid lesions which can pose diagnostic dilemma to cytopathologists, especially when the lesions are focally sampled. We describe a case of solitary thyroid nodule in a 46-year-old male, whose aspirates comprised predominantly of Hurthle cells exhibiting nuclear features suspicious of papillary carcinoma, which turned out to be Hurthle cell carcinoma on subsequent histological sections. The potential diagnostic pitfalls of Hurthle cell lesions and associated conditions in thyroid FNA are discussed. The presence of Hurthle cell change in a wide variety of thyroid lesions can be diagnostically challenging. However, accurate diagnosis can still be made with careful observation of the predominant cell population, nuclear features and whether there is abundant colloid or lymphocytes in the background.

Diagnostic challenges in fine needle aspiration cytology of salivary gland lesions

Background: Fine needle aspiration cytology (FNAC) has been widely accepted as a safe method for diagnosis of salivary gland lesions and its accuracy is increased with increasing the experience of the physician. This study was conducted to examine the sensitivity, specificity and accuracy of FNAC of salivary gland lesions by cyto-histological correlation and to identify the discrepancies that contribute to false diagnoses. Method: A retrospective study was carried out over a 7-year period from 2003 to 2009 to review the cases of patients with salivary gland lesions who underwent FNAC with histopathological confirmation. Results: A total of 101 cases had cytological correlation of whom 76 (75.3%) were neoplastic (58.4% benign, 16.8% malignant) and 25 (24.7%) were nonneoplastic. Pleomorphic adenoma (PA) was the most frequent benign neoplasm while adenoid cystic carcinoma (ACC) was the most frequent malignant neoplasm. FNAC had a sensitivity of 80% and a specificity of 98.8% for overall benign and malignant diagnoses and positive predictive and negative predictive values of 92.3% and 96.4% respectively. The most common false negative cases were pleomorphic adenoma. Conclusions: This study demonstrated that FNAC of the salivary gland is a useful technique for diagnosis of salivary gland lesions. Combined with clinical and radiological findings, it can provide a preliminary assessment on which management decision can be based.

Familial Adenomatous Polyposis-Associated Papillary Thyroid Cancer

Papillary thyroid carcinoma (PTC) associated with familial adenomatous polyposis (FAP) is rare. It is usually associated with the cribriform-morular variant of PTC, with unusual patterns on detailed histology examination. This variant is known to have a good prognosis. Papillary thyroid carcinoma associated with FAP commonly occurs in females in their 30s and rarely in the elderly. We report a case of a 69-year-old female presenting with thyroid swelling and a history of FAP.

Challenges in imaging and histopathological assessment of a giant cell tumour with secondary aneurysmal cyst in the patella.

The patella is an uncommon site for all primary and metastatic bone tumours and primary intra-osseous tumours of the patella are very rare. A majority of the patella tumours are benign. We report a patient with a sudden onset swelling and pain of the right knee following a staircase fall. The plain radiograph showed an expansile multiseptated patella lesion and it was further assessed with an MRI. The radiological findings and the initial histopathological features from a limited sample were suggestive of a primary aneurysmal bone cyst. However, the final histopathological diagnosis from a more adequate specimen was a giant cell tumour with a secondary aneurysmal bone cyst.

Identification of novel large genomic rearrangements at the BRCA1 locus in Malaysian women with breast cancer.

BACKGROUND: The incidence of breast cancer has been on the rise in Malaysia. It is suggested that a subset of breast cancer cases were associated with germline mutation in breast cancer susceptibility (BRCA) genes. Most of the BRCA mutations reported in Malaysia were point mutations, small deletions and insertions. Here we report the first study of BRCA large genomic rearrangements (LGRs) in Malaysia. We aimed to detect the presence of LGRs in the BRCA genes of Malaysian patients with breast cancer. METHODS: Multiplex ligation-dependent probe amplification (MLPA) for BRCA LGRs was carried out on 100 patients (60 were high-risk breast cancer patients previously tested negative/positive for BRCA1 and BRCA2 mutations, and 40 were sporadic breast cancer patients), recruited from three major referral centres, Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Hospital Kuala Lumpur (HKL) and Hospital Putrajaya (HPJ). RESULTS: Two novel BRCA1 rearrangements were detected in patients with sporadic breast cancer; both results were confirmed by quantitative PCR. No LGRs were found in patients with high-risk breast cancer. The two large genomic rearrangements detected were genomic amplifications of exon 3 and exon 10. No BRCA2 genomic rearrangement was found in both high-risk and sporadic breast cancer patients. CONCLUSION: These results will be helpful to understand the mutation spectrum of BRCA1 and BRCA2 genes in Malaysian patients with breast cancer. Further studies involving larger samples are required to establish a genetic screening strategy for both high-risk and sporadic breast cancer patients.

E-cadherin expression correlates with histologic type but not tumour grade in invasive breast cancer.

The traditional classification of infiltrating breast carcinomas into ductal and lobular can be diagnostically challenging in a small proportion of cases with equivocal histological features and in in-situ lesions with overlapping features. Distinguishing between the infiltrating ductal (IDC) and lobular (ILC) carcinomas is clinically important because of the different pattern of systemic metastases and prognostic evaluation. E-cadherin is a potentially useful immunohistochemical marker which may serve to differentiate between the two tumour types. We therefore studied E-cadherin expression in 32 cases of breast carcinomas comprising 16 IDCs and 16 ILCs. The correlation between E-cadherin expression and the histological grade of IDCs was also analysed. Our results showed complete loss of E-cadherin expression in all ILCs, while the IDCs consistently showed variable E-cadherin positivity. No significant correlation was found between E- cadherin expression and the histological grade of IDCs. We conclude from this study that E-cadherin is a useful marker to differentiate between IDC and ILC of the breast. A larger study of IDCs is now needed to further evaluate the correlation between E-cadherin and tumour grade to estimate its prognostic potential.

Semi-Quantitative Food Frequency Questionnaire for Assessment of Energy, Total Fat, Fatty Acids, and Vitamin A, C and E Intake among Malaysian Women: Comparison with Three Days 24-Hour Diet Recalls / Jurnal Sains Kesihatan Malaysia

Food frequency questionnaire (FFQ) is a practical tool for the measurement of usual food intake in large surveys because it gives a quick approximation to ‘true’ dietary intake. This study was carried out to compare the semiquantitative FFQ with three day 24-hour diet recalls (24-hr DR) in assessing intake of energy, total fat, fatty acids and vitamin A, C and E among Malaysian women. This semi-quantitative FFQ which was developed specifically for the Malay and Indian ethnicities has 200 food items and categorized according to three mealtimes namely breakfast, lunch or dinner and morning or afternoon snacks. A total of 51 Malay and 28 Indian women aged between 30 to 60 years were selected as study subjects. The result of the study shows that majority of study subjects were within the normal EI/BMR ratio when their energy intake was assessed by semi-quantitative FFQ (70%) and 24-hr DR (74%). However, 10% of study subjects became over-reporters when their intakes were assessed using the semi-quantitative FFQ. Analysis of t-test shows there is no significant difference (p > 0.05) on the mean intake of energy, total fats, saturated, monounsaturated and polyunsaturated fatty acids and vitamin A, C and E between semi-quantitative FFQ and 24-hr DR. Percent mean differences were also less than 10% for all nutrients included in this study. This indicates that the semi-quantitative FFQ can produce comparable results with 24-hr DR. Energy adjusted correlation coefficient values for all studied nutrients were total fat (r = 0.64, p = 0.02), saturated fatty acids (r = 0.59, p = 0.01), monounsaturated fatty acids (r = 0.52, p = 0.03), polyunsaturated fatty acids (r = 0.57, p = 0.02), vitamin A (r = 0.69, p = 0.01), retinol (r = 0.55, p = 0.01), beta carotene (r = 0.74, p = 0.01), vitamin C (r = 0.64, p = 0.02) and vitamin E (r = 0.69, p = 0.01). Cross-classification for both methods into quartiles of intake resulted in correct classification into the same or adjacent quartile from 82% to 96% of the study subjects. Only 3% of the subjects were grossly misclassified. As a conclusion, this semi-quantitative FFQ gives estimation as good as 24-hr DR for intakes of energy, total fat, fatty acids and vitamin A, C and E among Malaysian women specifically for the Malay and Indian ethnicities. This semi-quantitative FFQ is a useful tool in dietary intake assessment for research use especially for epidemiological study on diet and disease relationship such as cardiovascular, cancer and diabetes.

Malignant cervical teratoma in an adult presenting with impending airway obstruction.

Extragonadal teratomas and germ cell tumours are uncommon. Most teratomas of the head and neck present in the paediatric age group. Occurrence of such tumours in an adult is extremely rare and, to date, less than 40 cases have been reported in the literature. We report a case of a young man presenting with impending airway obstruction secondary to a malignant teratoma of the neck.