Molecular genetic features and risk assessment in a series of 30 patients who underwent an operation for gastrointestinal stormal tumours.

BACKGROUND: The objective of the study was to investigate the relationship between molecular genetic features and the standard criteria of risk assessment in patients affected by gastrointestinal stromal tumours (GISTs). METHOD: A review was conducted of a series of 30 patients, with a mean age of 67 years, who underwent surgery for primary GISTs. R0 resection was accomplished in 27 patients. CD117, CD34 desmin, vimentin, S-100 and smooth muscle actin were immunohistochemically tested to achieve a diagnosis of GIST. The loss of wild-type KIT or platelet-derived growth factor receptor alpha (PDGFRα) genes was investigated by sequencing the tumour DNA. RESULTS: Tumour genes mutations were reported in 23 patients (77%), and wild-type in seven. Mutations on the KIT gene occurred in 18 patients, and mutations on the PDGFRα gene in five. The average sizes of the GIST were 8.7 cm, 5.4 cm and 5.9 cm for KIT gene-mutated, PDGFRα gene-mutated and wild-type tumours, respectively. KIT gene mutations were detected in 50% of gastric and in 70% of extragastric GISTs. Moreover, 70% of tumours with a mitotic rate ≥ 5 x 50 highpower fi elds (HPFs) underwent KIT gene mutations. Conversely, PDGFRα mutations were observed only in gastric GISTs with a mitotic rate ≤ 5 x 50 HPFs. By stratifying GISTs according to classes of risk, KIT mutation was shown in most of the high-risk tumours. PDGFRα mutations occurred exclusively in lower classes of risk. CONCLUSION: Molecular analysis data might have a role as a prognostic variable in models of risk assessment for patients with GISTs.

Endoscopic bilateral neck exploration versus quick intraoperative parathormone assay (qPTHa) during endoscopic parathyroidectomy: A prospective randomized trial.

BACKGROUND: Quick intraoperative parathormone assay (qPTHa) during paratyroidectomy has become a standard procedure for patients with primary hyperparathyroidism (PHPT). This paper aims to compare endoscopic bilateral neck exploration (BE) versus focused parathyroidectomy plus qPTHa during minimally invasive video-assisted parathyroidectomy (QM). The endpoints of the study are the mean operative time and outcome of the surgical procedure (PTH and calcemia normalization at one and six months postoperatively). METHODS: Forty patients with PHPT, positive to preoperative localization studies (ultrasonography evaluation and (99)Tc-MIBI scan) for a single parathyroid adenoma, were randomly allotted into two groups. In the first group (QM), 20 patients (17 women, three men, mean age 57.6 years) underwent focused endoscopic parathyroidectomy (MIVAP tecnicque) plus qPTHa . In the second group (BE) 20 patients (17 women, three men, mean age 59.6 years) underwent endoscopic parathyroidectomy plus bilateral exploration in order to check the integrity of the remaining glands. RESULTS: There were no significant differences between groups at baseline. No conversion to cervicotomy was required. No postoperative complications were reported. The mean operative time was 32.0 vs 33.1 min [BE and QM group respectively, p = not significant (ns)]. A second macroscopically enlarged gland was removed in four patients in the BE group. Only one out of four glands was reported to be hyperplastic in the final histology. All patients were discharged on the first postoperative day. Calcemia levels were normalized in all patient of both groups, despite persistently high level of serum PTH in one patient in the QM group. CONCLUSIONS: BE can be performed endoscopically, avoiding both the time necessary for qPTHa and its cost, with the same effectiveness, but might in few cases lead to the unjustified removal of parathyroid glands slightly enlarged but not necessarily pathologic.

[New technologies in thyroid surgery. Endoscopic thyroid surgery]. / Le nuove tecnologie nella chirurgia tiroidea. Chirurgia endoscopica della tiroide.

The onset of cervicoscopy dates back to the first endoscopic parathyroidectomy in 1996. This operation, along with its several variants, has become a valid option widespread in many important centres. Later on, endoscopic or video assisted thyroidectomy was introduced in spite of the limits imposed by the mass of the gland to remove. It is indicated for a minority of patients for this reason but both parathyroidectomy and thyroidectomy showed some important advantages with respect to conventional surgery, advantages demonstrated also in prospective studies. They are mainly represented by a better cosmetic outcome and a less distressful postoperative course. These approaches proved to be safe and feasible in any surgical background: their complication rate is the same as traditional open surgery in the neck. Very promising seems to be the videoscopic access to neck lymph nodes (central and lateral compartments) whereas other fields of application such as carotid artery surgery and spine surgery still remain object of experimental studies. As far as the lateral neck dissection is concerned the technique is going to be standardized in our centre as a variant of the well known video assisted approach adding a 5 mm trocar placed in the supraclavicular space. By consequence, cervicoscopy has to be considered an important surgical tool which can be further improved but which also has an excellent potentiality.

A congenital anterior urethrocutaneous fistula in a boy whose mother was exposed to ionizing radiations: case report and literature review.

Anterior congenital urethrocutaneous fistula is a rare anomaly that may present in an isolated fashion or in association with other anomalies of the genital urinary tract or anorectal malformations. A case of congenital anterior urethrocutaneous fistula nonassociated with other congenital anomalies in a 3-year-old male whose mother has been exposed to Chernobyl's nuclear fallout is described. The patient was successfully operated with no recurrence. We report a review of the literature about etiology and surgical strategy including the role of ionizing radiations. The congenital anterior urethrocutaneous fistula represents a rare malformation. The etiopathogenesis is unknown.