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.

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.