Frequency assessment of BRAF mutation, KRas mutation, and RASSF1A methylation in nodular goitre based on fine-needle aspiration cytology specimens Ocena czestosci wystepowania mutacji genów BRAF, KRas oraz.

INTRODUCTION: Standard pre-operative diagnosis of nodular goitre is not always conclusive. The decision about nodular goitre surgery is increasingly based on molecular methods. The aim of the study was to determine BRAF T1799A mutation and KRas proto-oncogene mutation, and the analysis of RASSF1A promoter methylation level in cytological material obtained from FNAB specimens of thyroid nodules. MATERIAL AND METHODS: The study population consisted of 85 women and 12 men. The study material was genomic DNA isolated from peripheral blood and thyroid bioptates. Pyrosequencing was used for the evaluation of RASSF1 methylation level. KRas mutation was investigated with Sanger sequencing. BRAF mutation was analysed by standard methods of real-time amplification detection (real-time PCR) with the use of specific starters surrounding the mutated site. RESULTS: A significant positive correlation was demonstrated between mean methylation of four CpG islands of RASSF1A gene and thyroid tumour volume and its largest diameter (p < 0.05). KRas mutation was not detected in any of the 97 patients. In 7/85 subjects (8.2%) BRAF mutation was observed. In 6/7 patients with BRAF mutation, FNAB of thyroid nodules confirmed a benign nature of the lesions; the material was non-diagnostic in one patient, and papillary thyroid cancer was diagnosed on the basis of postoperative histopathology assessment. CONCLUSIONS: The results of genetic tests reported in our study indicate that the presence of BRAF mutation or higher RASSF1A methylation levels in FNAB cytology specimens of benign lesions may be useful in the assessment of oncological risk, while the evaluation of KRas proto-oncogene mutation is not a valuable test in pre-operative diagnosis of nodular goitre.

Laparoscopic adrenalectomy for functioning and non-functioning adrenal tumours.

BACKGROUND: The purpose of this study was a retrospective analysis of outcomes following laparoscopic adrenalectomy (LA) performed for benign adrenal tumours responsible for various endocrinological disorders. The patients were diagnosed with non-functioning (NFT) and functioning adrenal tumours (FT) including pheochromocytoma (PH), Conn's syndrome (CO) and Cushing's (CS) syndrome. MATERIAL AND METHODS: A total of 165 LAs were carried out between August 1995 and September 2009 via either the transperitoneal (n = 38) or retroperitoneal (n = 127) approach. The analysed factors included demographic data of patients, the American Association of Anaesthesiology score (ASA), indication for surgery, tumour size and side, intraoperative and postoperative outcome of LA including duration of surgery, blood loss, time until ambulation, length of hospital stay, time until return to normal activity, the complication rate, as well as the conversion rate to open adrenalectomy. RESULTS: There were 111 patients with NFT and 54 with FT. Patients with NFT were significantly older than those with CO (p < 0.05). The mean size of the lesion differed between CO and other adrenal tumours (p < 0.05) as well as between NFT and PH (p < 0.05). All the lesions except aldosteronomas were detected predominantly in the right adrenal gland (p < 0.05). However, despite the different characteristic and clinical disorders related to laparoscopically removed adrenal tumours, the intraoperative and postoperative outcomes did not significantly differ in most cases between the analysed groups of patients. CONCLUSION: This study shows that LA is a safe, effective, and well-tolerated procedure despite the hormonal activity of the removed lesions. Minimal invasive surgery may be recommended as the 'gold standard' in the treatment of both functioning and non-functioning benign tumours of the adrenal gland.

From open to laparoscopic adrenalectomy: thirty years' experience of one medical centre.

INTRODUCTION: Laparoscopic adrenalectomy (LA) has become the standardized treatment of benign adrenal lesions over the last two decades, making the indications to open adrenalectomy (OA) limited. The purpose of this study was to show the thirty years of experience in open (OA) and laparoscopic adrenalectomy (LA) gained in one medical centre as well as to compare the results of OA and LA performed for benign adrenal lesions. MATERIAL AND METHODS: Three hundred patients underwent 127 open and 173 laparoscopic adrenalectomies between 1979 and 2009 at M. Curie Hospital in Szczecin, Poland. Analyzed factors included patients demographic data, ASA score, indication for surgery, tumour size and side, characteristics of the removed tumours, intraoperative and postoperative outcome of LA and OA, postoperative pain sensation, intraoperative and postoperative complications, and conversion rate from LA to OA. Tumours with diameter exceeding 8 cm were excluded. RESULTS: There were no significant differences regarding the analyzed preoperative data in both groups of patients. The mean operative time was longer in the LA group (137 v. 82 min., p < 0.0001) and the blood loss was lower in LA group (110 v. 254 mL, p < 0.0001). The mean time until resumption of normal diet was shorter after LA (22 v. 44 h), as was the mean time until ambulation (17 v. 36 h), mean length of the hospital stay (4.6 v. 6.8 days), and mean time until return to normal activities (14 v. 23 days, p < 0.0001 for each difference). The analgesic requirement on the first and the second day postoperatively was lower in the LA group (p < 0.0001). The incidence of intraoperative and postoperative complications did not differ significantly between both analyzed groups. The rate of the conversion from LA to OA was 16%. The histopathological diagnosis was adenoma of the adrenal gland in the majority of cases. CONCLUSIONS: This study shows that LA is a safe, effective, and well-tolerated procedure. It may be recommended as a "gold standard" surgery in a case of benign functioning or non-functioning adrenal tumours with diameter less than 8 cm. (Pol J Endocrinol 2010; 61 (1): 94-101).