Risk-stratified management of well-differentiated thyroid cancers: a review of experience from a single institution, 1990-2003.

INTRODUCTION: Controversy persists regarding ideal management strategies in well-differentiated thyroid cancers (WDTC). This retrospective study reviews the utilization of a modified AMES risk stratification in the management of our institution's patients. METHODS: A total of 352 patients (median follow-up of 5.5 years) were reviewed and were risk stratified. Surgical resection was performed, and patients with clinically palpable lymph nodes were subjected to radical neck dissection. Patients were referred for adjuvant therapy if necessary. RESULTS: Of the 352 patients, 264 (75%) were females and 276 (78%) had papillary thyroid cancer (PTC). For those with lymph nodes (50%), 95% had PTC. In this series, 72% of the patients underwent total thyroidectomy; 5-year disease-free survival probability was 100% in low-risk patients, 92% in intermediate-risk patients, and 64% in high-risk patients. The 5-year overall survival probability was 100% in low-risk patients, 96% in intermediate-risk patients, and 69% in high-risk patients, respectively (both logrank trend p<0.001). CONCLUSIONS: Management of WDTC requires multimodal treatment and should be based on patient risk classifications. We recommend aggressive surgical resection for all gross disease in high-risk and intermediate-risk patients. Adjuvant therapy is recommended in high-risk patients, but should be individualized for intermediate-risk patients. Total thyroidectomy may not be necessary in low-risk patients.

Follicular thyroid carcinoma presenting as axial skeletal metastases.

INTRODUCTION: Common modes of presentation of follicular thyroid carcinoma include a solitary thyroid nodule and cervical lymphadenopathy. We report four patients who presented with axial skeletal metastases rather than the usual neck lumps. METHODS: A review of a database of 389 cases of thyroid cancer, managed by our department from 1990 to 2003, was perfomed. Based on each patient's presenting clinical feature, patients for the case series were selected. RESULTS: Four of the 389 patients presented with axial skeletal metastases - three were in the scalp while the fourth was in the sacral region. The histology of all four cases was that of follicular thyroid carcinoma. Despite widespread metastases at presentation, the overall survival rates of these patients remained relatively good. CONCLUSION: Patients presenting with lesions suspicious of secondary malignancy in the axial skeleton should be clinically evaluated for thyroid cancer. This is especially important if the patient belongs to a high risk age group and has highly vascular lesions.

The significance of cystic adrenal lesions in multiple endocrine neoplasia IIB syndrome.

Cystic adrenal lesions are common, but cystic pheochromocytomas are rare. In the setting of a cystic adrenal mass in a patient with multiple endocrine neoplasia syndrome (MEN) IIB, the diagnosis of pheochromocytoma must be considered. We report a 29-year-old woman with typical phenotype of MEN IIB (marfanoid habitus, thick blubbery lips, mucosal ganglioneuromas) and a history of medullary thyroid carcinoma. She presented with headaches, palpitations and tremors. Computed tomography revealed a left cystic adrenal mass. The likelihood of the lesion being a pheochromocytoma was thought to be low due to its cystic appearance. However, urine ephinephrine and metanephrine levels were elevated. She underwent a left adrenalectomy and histological examination revealed a cystic pheochromocytoma.

Massive ascites--an uncommon presentation of endometriosis.

Endometriosis as a cause of massive ascites is very rare. It is seldom possible to arrive at the diagnosis without surgical exploration. We describe a case of this entity which presented to us as a surgical problem. This proved to be a diagnostic dilemma to us and our colleagues in other disciplines, with the diagnosis being made based on histology after surgical exploration. The literature is reviewed and we hope our experience in this case will increase the awareness of this uncommon entity.

Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore.

The mutation spectrum of the BRCA1 gene among ethnic groups from Asia has not been well studied. We investigated the frequency of mutations in the BRCA1 gene among Malay breast cancer patients from Singapore, independent of family history. By using the protein truncation test (PTT) and direct sequencing, BRCA1 mutations were detected in 6 of 49 (12.2%) unrelated patients. Four novel missense mutations in exon 11, T557A (1788A>G), T582A (1863A>G), N656S (2086A>G) and P684S (2169C>T) were identified in one patient. Two patients had missense mutations in exon 23, V1809A (5545T>C), which has been previously detected in individuals from Central and Eastern Europe. Three unrelated patients had the deleterious 2846insA frameshift mutation in exon 11. Methylation specific PCR (MSP) of the promoter region of the BRCA1 gene detected hypermethylation of tumor DNA in an additional 2 patients. Haplotype analysis using the microsatellite markers D17S855, D17S1323 and D17S1325 revealed a common haplotype for the three unrelated patients and their three relatives with the 2846insA mutation. These findings strongly suggest that the 2846insA mutation, the most common deleterious mutation in this study, may possibly be a founder mutation in breast cancer patients of Malay ethnic background.

Surgical management and outcome of carotid body tumours.

INTRODUCTION: Carotid body tumours are rare but are interesting in their manner of presentation and challenging with respect to surgical extirpation. They may present as a neck mass from which a bloody aspirate is obtained on fine needle aspiration. They are occasionally diagnosed only at the time of surgery, when one encounters the vascular tumour mass. METHODS: We reviewed the results of 8 cases operated in our department over a 10-year period from 1989 to 1999. We evaluated in-hospital mortality and morbidity, as well as the long-term outcome especially with regards to functional disability. RESULTS: Preoperative evaluation included angiography, computed tomography (CT) or magnetic resonance angiography. Operative technique involves good exposure, vascular control, identification and preservation of neurovascular structures and subadventitial tumour dissection. In all cases the vagus nerve was preserved, except in 1 case who had a malignant tumour and resection of the vagus nerve together with the accessory nerve and sympathetic chain. Two patients had unexpected hoarseness of voice postoperatively, 1 was due to permanent vagus nerve palsy and the other to transient vagus nerve palsy. One of them needed vocal cord medialisation and long-term tube feeding. One patient had bilateral tumours and developed a stroke after an operation on the second tumour. No patients exhibited local or metastatic disease during follow-up. There was no mortality in all cases. CONCLUSION: Although resection of the carotid body tumour is safe in experienced hands, long-term morbidity is still a significant problem and can be debilitating to the patient.

Unusual endolaryngeal extension of a large thyroglossal duct cyst.

INTRODUCTION: Thyroglossal duct cysts account for approximately 70% of congenital neck abnormalities. Hoarseness of voice and the extension of the cyst into the larynx are very uncommon. CLINICAL PICTURE: We present a patient with a long history of a large thyroglossal cyst who developed progressive hoarseness of voice. The cyst had protruded into the larynx producing the appearance of a laryngeal neoplasm. Computed tomography (CT) clearly demonstrated the nature of the cyst and its encroachment into the larynx. TREATMENT: This was safely excised with a Sistrunk procedure and a temporary tracheostomy to maintain a secure airway, in view of the possibility of postoperative supraglottic oedema. CONCLUSION: Endolaryngeal extension of the thyroglossal duct cyst is rare. Evaluation of unusual large midline neck masses should include a CT scan. The intralaryngeal component of the cyst can be easily dissected off from the neighbouring structures during dissection in the Sistrunk procedure. A tracheostomy may be needed.

Gallstone embedded within a port site metastasis--report of a case.

The occurrence of port site metastasis after laparoscopic cholecystectomy for an incidental gallbladder carcinoma is well-documented but the underlying aetiology is not clear. Several mechanisms including tumour implantation to the effects of carbon dioxide usage have been implicated. Here, we describe an unusual case of a late port site recurrence in a 60-year-old woman where a gallstone was found embedded within the heart of the recurrence. We critically review the basic and clinical evidence that contributes to the pathophysiology of this phenomenon and the surgical strategies employed.