Juvenile myelomonocytic leukaemia (JMML), previously known as juvenile chronic myeloid leukaemia (JCML) is a rare, myelodysplastic – myeloproliferative disease typically presenting in early childhood. This disorder is diffi cult to distinguish from other myeloproliferative syndrome such as chronic myeloid leukaemia (CML) because of the similarities in their clinical and bone marrow fi ndings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinaemia and raised fetal haemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukaemia (CMML) group, as seen in adult patients. We describe a series of three patients with JMML, who had almost similar clinical and laboratory fi ndings, and discuss the diffi culty in the classifi cation and treatment of the disease.

A cross sectional study was done to determine the prevalence and distribution of human papillomavirus (HPV) genotypes in pre-invasive (cervical intraepithelial neoplasia, grade 3 or CIN 3) and invasive cervical cancer (ICC), in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). A total of 80 paraffin-embedded tumour tissue blocks (20 CIN 3, 60 invasive cancers) between 1999 to 2007 were retrieved from the archives of the Department of Pathology. Patient’s medical records were obtained from the Medical Records Office. Among invasive cancers (n=60), squamous cell carcinoma (SCC) account for 75% and adenocarcinoma 25%. The mean age of cases studied was 52.0 ± 12.2 years and Chinese was the predominant ethnicity (66.3%). Twelve HPV genotypes were identified, namely, HPV 16, 33, 18, 39, 52, 45, 58, 59, 31, 35, 6 and 11. The prevalence of HPV was 92.5% with types 16 being the most common (73.8%), followed by types 33 (30%) and 18 (22.5%). A total of 31 cases (38.8%) showed single HPV genotype, while 43 (53.8%) had multiple HPV (two genotypes or more) genotypes. In ICC, HPV 16, followed by types 33, 18, 52 and 39 were the top five common HPV genotypes detected. High prevalence of HPV and multiple HPV infections were major findings among patients with pre-invasive and invasive cervical cancer.

Thyroid nodules are common but thyroid malignancies are not. Fine needle aspiration (FNA) cytology is a diagnostic tool used to screen patients with thyroid nodules who require surgery. We study the diagnostic accuracy of FNA as the initial diagnostic modality in the clinical assessment of thyroid nodules. Between January 1995 until December 2000, 2131 FNA of thyroid nodules were performed. Four hundred and forty-one (20.7%) of these were unsatisfactory and 1690 (79.3%) cases were satisfactory for cytological evaluation. Histopathological diagnosis were available for 361 cases. Cyto-histopathological correlation was carried out for these cases. Our results showed a diagnostic accuracy of 96.2% with sensitivity and specificity rates of 87.7% and 98.4% respectively. Our positive predictive value is 93.4% and our negative predictive value is 96.8%. From this study, we conclude that fine needle aspiration is an important initial screening diagnostic tool for the investigation of thyroid nodules.

One of the most important cervical cancer risk factors is human papillomavirus (HPV) infection. The p53 gene is one of the most important targets of the HPV E6 gene. E6 protein has the ability to stimulate p53 degradation, inhibits several functions of wild-type p53 and it competes with its function including suppression of malignant growth. The aim of this study is to determine the differences in p53 expressions in pre-malignant and malignant cervical neoplasms. This is a retrospective study on 100 cases of cervical neoplasms. There were 21 cases of CIN 1, 8 cases of CIN 2, 25 cases of CIN 3, 36 cases of squamous cell carcinoma, 7 cases of adenocarcinoma and 3 cases of adenosquamous carcinoma. All cases were evaluated by immunohistochemistry using p53 monoclonal antibody. Thirty six of the 54 pre-malignant cases (66.7%) were positive for p53 protein, in contrast to the malignant cases in which, 40 of the 46 cases (87.0%) were positive. The majority of CIN showed absent to focal staining (29/54, 53.7%). In contrast, 84.8% (39/46) of the invasive carcinoma showed regional to diffuse staining. The expression of p53 is greater in the malignant cervical neoplasms than the pre-malignant cervical lesions, suggesting that p53 overexpression is not an early phenomenon in the pathogenesis of cervical cancer. It is also shown to be slightly higher in percentage in CIN 2 and 3 when compared with CIN 1. However, a number of cases were p53 negative, suggesting that other factors may be involved and further HPV studies are indicated.

Pleomorphic adenoma (PA) typically presents as a benign slow growing, painless neoplasm of the parotid gland. PA arising from the submandibular gland in the paediatric age group is rare. Surgical excision is the treatment of choice. A case of PA in an 8-yearold Malay girl is presented. Clinically she presented with a painless right submandibular mass measuring 2x2cm. A diagnosis of Pleomorphic adenoma was made on Fine Needle Aspiration Cytology (FNAC). She underwent submandibulectomy uneventfully. Postoperatively after two years follow up, she is asymptomatic.

Aneusomy is an early genetic event and a characteristic feature of many solid tumors. It is often associated with poor prognosis in cancer patients. The involvement of PAX8-PPARγ rearrangement in tumorigenesis of follicular thyroid lesions has been widely assessed. However, there were few reports on aneusomy of the PPARγ gene at the 3p25 locus in follicular thyroid lesions. It remains undetermined whether these abnormalities can be translated into improved diagnosis, classification, or outcome prediction. Herein, we report three cases of follicular thyroid neoplasms [two follicular thyroid carcinomas (FTCs) and one Hurthle cell adenoma (HCA)] with 3p25 aneusomy detected by fluorescence in situ hybridization (FISH). 3p25 trisomy was observed in one FTC and one HCA while 3p25 tetrasomy was observed in one FTC. Furthermore, all three lesions did not show overexpression of PPARγ protein. Hurthle cell neoplasms (HCN) are distinct clinically and histologically from other follicular thyroid neoplasms (FTN). However, the presence of the aneusomy in HCA and FTC indicates that there could be a biological continuum between the two and chromosomal gains might play an important role in the pathogenesis of these two types of neoplasms. Despite their differences, HCN and FTN may share the same early genetic event in tumour development.