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.
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.
The cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) is an enzyme that is predominantly involved in the metabolism of tamoxifen. Genetic polymorphisms of the CYP2D6 gene may contribute to inter-individual variability in tamoxifen metabolism, which leads to the differences in clinical response to tamoxifen among breast cancer patients. In Malaysia, the knowledge on CYP2D6 genetic polymorphisms as well as metabolizer status in Malaysian breast cancer patients remains unknown. Hence, this study aimed to comprehensively identify CYP2D6 genetic polymorphisms among 80 Malaysian breast cancer patients. The genetic polymorphisms of all the 9 exons of CYP2D6 gene were identified using high-resolution melting analysis and confirmed by DNA sequencing. Seven CYP2D6 alleles consisting of CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*10, CYP2D6*39, CYP2D6*49, and CYP2D6*75 were identified in this study. Among these alleles, CYP2D6*10 is the most common allele in both Malaysian Malay (54.8%) and Chinese (71.4%) breast cancer patients, whereas CYP2D6*4 in Malaysian Indian (28.6%) breast cancer patients. In relation to CYP2D6 genotype, CYP2D6*10/*10 is more frequently observed in both Malaysian Malay (28.9%) and Chinese (57.1%) breast cancer patients, whereas CYP2D6*4/*10 is more frequently observed in Malaysian Indian (42.8%) breast cancer patients. In terms of CYP2D6 phenotype, 61.5% of Malaysian Malay breast cancer patients are predicted as extensive metabolizers in which they are most likely to respond well to tamoxifen therapy. However, 57.1% of Chinese as well as Indian breast cancer patients are predicted as intermediate metabolizers and they are less likely to gain optimal benefit from the tamoxifen therapy. This is the first report of CYP2D6 genetic polymorphisms and phenotypes in Malaysian breast cancer patients for different ethnicities. These data may aid clinicians in selecting an optimal drug therapy for Malaysian breast cancer patients, hence improve the clinical outcome of the patients.
The association of arsenical poisoning with the development of skin cancer is well-known. In Malaysia, arsenic has been shown to coexist with tin in tin-mining land. Our preliminary investigation has shown that the level of arsenic in well water from a tin-mining area is high. We report 3 patients with cutaneous lesions typical of chronic arsenical poisoning such as hyperpigmentation, keratoses and skin cancer. These patients have positive histories of previous domicility in tin-mining areas. We conclude that these patients developed chronic arsenical poisoning from drinking well water polluted with arsenic from the tin-mining soil.
Human papillomavirus (HPV) is a necessary cause of cervical cancer and its precursors. Increased expression of high-risk hrHPV viral oncogenes in abnormal cells might increase the expression of p16INK4a. We aimed to determine the role of p16INK4a in detecting hrHPV-transformed epithelial cells in liquid-based cervical cytology, and compared the results with hrHPV DNA testing by realtime polymerase chain reaction (RT-PCR). Fifty-seven cytological samples were tested for p16INK4a immunomarker and hrHPV DNA. Test performance of both tests was determined by comparing sensitivity, specificity and predictive values using available histological follow-up data as gold standard. Of 57 samples, 36 (63.2%) showed immunoreactivity for p16INK4a and 43 (75.4%) were hrHPV-infected. A fairly low concordance rate (k = 0.504) between p16INK4a immunolabelling and hrHPV DNA status was noted. For prediction of cervical intraepithelial neoplasia (CIN) II and worse lesions, p16INK4a had a sensitivity and specificity of 93.5% and 60%; whereas hrHPV DNA testing had a sensitivity and specificity of 100% and 20%. Dual testing by combining p16INK4a and hrHPV showed sensitivity and specificity of 100% and 33.3%. In conclusion, p16INK4a is useful in predicting severity of the cytological abnormalities. Although p16INK4a is more specific but less sensitive than hrHPV in detecting high-grade cervical lesions, a combination of both tests failed to demonstrate significant improvement in diagnostic sensitivity, specificity and predictive value. Larger-scale prospective studies are required to assess further whether this biomarker should be routinely used as primary screening tool independently or in combination with hrHPV testing to improve diagnostic accuracy in cervical cytology.