Pilomatricomas can be confidently diagnosed cytologically due to their characteristic cytomorphological features. However, these lesions are rarely encountered by cytopathologists and thus pose a diagnostic dilemma to even experienced individuals, especially when the lesions are focally sampled. We describe two cases of histologically confirmed pilomatricoma. The first case is of a 13-year-old boy with posterior cervical ‘lymphadenopathy’, and the second one is of a 12-year-old girl with a lower cheek swelling. Both aspirates comprised predominantly atypical basal-like cells, with prominent nucleoli. ‘Ghost cells’ were readily identified by cell block in case two, but cell block in case one yielded no diagnostic material. In case two, pilomatricoma was accurately diagnosed pre-operatively. A cytological suspicion of a neoplastic process was raised in case one. Despite being diagnostically challenging, pilomatricoma can be diagnosed with careful observation of two unique cytological features of the lesions: (1) pathognomonic ‘ghost cells’ and (2) irregular, saw-toothed, loosely cohesive basaloid cells, with prominent nucleoli. The role of thorough sampling of the lesion, with multiple passes of various sites, cannot be overemphasized.

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.

DiGeorge syndrome is associated with microdeletion of chromosome 22q11.2. Most cases occur sporadically although vertical transmission has been documented. We report a rare case of DiGeorge syndrome in an 8-year-old girl. Blood sample of the patient was cultured and harvested following standard procedure. All of the 20 cells analysed showed a karyotype of 45,XX,-22,t(9;22)(p23;q11.2). Cytogenetic investigation done on the patient’s mother revealed that she was the carrier for the translocation. Her karyotype was 46,XX,t(9;22)(p23;q11.2). Fluorescence in situ hybridisation (FISH) analysis using TUPLE1 and N25 (Vysis, USA) probes showed deletion of the 22q11.2 region in the patient, confi rming the diagnosis of DiGeorge syndrome. FISH analysis showed no deletion of the region in the mother.

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.

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.

Cervical cancer (CC) is the second most prevalent female cancer in Malaysia. Almost 70% of its’ causal factors are attributable to oncogenic human papillomavirus (HPV) types 16, 18 and other risk factors. HPV genotypes distributions are also noted to differ by geographical area. This was cross sectional study conducted in 2007, to determine the influencing factors of HPV positivity and prevalence of HPV infections among patients with cervical cancer in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). Patients’ paraffin-embedded cervical tissues kept in the Pathology Department from 1999 to 2007 were randomly selected. A total of 81 medical records with complete information were chosen as samples and patients were contacted for consent. Tissue samples were further derived for PCR DNA for HPV genotyping. Analyses included descriptive statistics; bivariate χ2 test and correlation were used to determine relationship between factors and HPV positivity. Significance level of less than 0.05 was taken as statistically significant. Mean age of cancer diagnosis was at 52 ± 12.2 years. Women of Chinese ethnicity was the highest ethnicity to be HPV positive at 65.4% and squamous cell carcinoma was more commonly found (59.3%) compared with other types of cancers. The prevalence of HPV positivity was 92.6% with type 16 being the most common (74.1%), followed by type 33 (30.9%) and 18 (22.2%). Multiple HPV infections were a common finding at 54.3%. Factors thought to influence positivity i.e. age of intercourse, number of sexual partners, number of parity, smoking status of patients and their partners, oral contraceptive usage, presence of chronic illnesses and cancer stage were not significantly associated with HPV positivity. Increased CC severity level was not associated with increased number of HPV infections (Pearson correlation 0.58; p =0.607). High HPV positivity at 92.6% was found among ICC patients. Factors thought to influence HPV positivity were not significant. The top three HPV genotypes were type 16 followed by type 33 and 18. However, local women HPV serotypes findings need to be replicated in a larger population sample.
Papillomavirus Vaccines ; Uterine Cervical Neoplasms ; Genotype

The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal; however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal imbalances.

Turner syndrome is one of the most common chromosomal abnormalities affecting newborn females. More than half of patients with Turner syndrome have a 45X karyotype. The rest of the patients may have structurally abnormal sex chromosomes or are mosaics with normal or abnormal sex chromosomes. Mosaicism with a second X sex chromosome is not usually of clinical significance. However, Turner syndrome patients having a second Y chromosome or Y chromosomal material are at risk of developing gonadoblastoma later in life. The aim of this study is to compare the results of conventional (karyotyping) and molecular cytogenetics (FISH), and discuss the advantages and limitations in the diagnosis of Turner syndrome. We also aim to compare the degree of mosaicism identified using conventional cytogenetics and FISH techniques. Conventional cytogenetics and FISH analyses were performed on eight peripheral blood samples of patients with Turner syndrome collected between 2004 and 2006. From this study, two out of eight patients with Turner syndrome were found to have the sex determining region on the Y chromosome (SRY) gene by FISH analysis. Our results showed that the rate of detection of mosaic cases in Turner syndrome was also increased to 88% after using the FISH technique. We concluded that FISH is more superior to conventional cytogenetics in the detection of the Y chromosomal material. FISH is also a quick and cost effective method in diagnosing Turner syndrome and assessing the degree of mosaicism.

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.