Immunohistochemistry for BRAF(V600E) antibody VE1 performed in core needle biopsy samples identifies mutated papillary thyroid cancers.

BRAF(V600E) is the most frequent genetic mutation in papillary thyroid cancer (PTC) and has been reported as an independent predictor of poor prognosis of these patients. Current guidelines do not recommend the use of BRAF(V600E) mutational analysis on cytologic specimens from fine needle aspiration due to several reasons. Recently, immunohistochemistry using VE1, a mouse anti-human BRAF(V600E) antibody, has been reported as a highly reliable technique in detecting BRAF-mutated thyroid and nonthyroid cancers. The aim of this study was to test the reliability of VE1 immunohistochemistry on microhistologic samples from core needle biopsy (CNB) in identifying BRAF-mutated PTC. A series of 30 nodules (size ranging from 7 to 22 mm) from 30 patients who underwent surgery following CNB were included in the study. All these lesions had had inconclusive cytology. In all cases, both VE1 and BRAF(V600E) genotypes were evaluated. After surgery, final histology demonstrated 21 cancers and 9 benign lesions. CNB correctly diagnosed 20/20 PTC and 5/5 adenomatous nodules. One follicular thyroid cancer and 4 benign lesions were assessed at CNB as uncertain follicular neoplasm. VE1 immunohistochemistry revealed 8 mutated PTC and 22 negative cases. A 100% agreement was found when positive and negative VE1 results were compared with BRAF mutational status. These data are the first demonstration that VE1 immunohistochemistry performed on thyroid CNB samples perfectly matches with genetic analysis of BRAF status. Thus, VE1 antibody can be used on thyroid microhistologic specimens to detect BRAF(V600E)-mutated PTC before surgery.

Neck schwannoma diagnosed by core needle biopsy: a case report.

Here we present a case of a 58 year old man referred to our hospital to undergo neck and thyroid ultrasonography (US) following palpable neck mass. US revealed a solid hypoechoic nodule in right thyroid lobe, and a solid lesion on the right laterocervical neck region with ultrasound suspicious features of neoplastic lymph node. In order to achieve a diagnosis of the neck mass and to get a proper evaluation of the thyroid nodule, we decided to perform a fine-needle aspiration (FNA) of both lesions. At cytopathologic examination the thyroid nodule appeared as benign, while cytologic sampling of the neck lesion was inadequate for a proper evaluation. Thus, we performed core needle biopsy (CNB) of the neck lesion like recently proposed for thyroid lesions; also, to definitively exclude malignancy of thyroid nodule, this also underwent CNB. Histologic report of CNB confirmed benign thyroid nodule, while the neck lesion revealed a proliferation of neuronal type consistent with schwannoma. The patient has been addressed to clinical and ultrasonographic follow-up. CNB appears as a safe and minimally-invasive approach to diagnose indeterminate neck masses and avoid unnecessary diagnostic surgery.

[Primary sarcoidosis of the breast: a clinical case]. / La sarcoidosi primitiva della ghiandola mammaria: caso clinico.

Sarcoidosis of the breast is rare and only few cases are reported in the literature. A case of sarcoidosis presenting as a breast mass with no other evidence of disease is herein reported. Ultrasound and fine needle aspiration biopsy were performed, but only excisional biopsy with microscopic examination confirmed the diagnosis. Differential diagnosis with other granulomatous lesions is important to select the proper treatment.

[Criteria for the endoscopic assessment of hemorrhage risk in esophageal varices]. / Criteri di valutazione endoscopica del rischio di sanguinamento delle varici esofagee.

The natural history of liver cirrhosis shows one third of patients bleeding from esophageal varices. The first episode of bleeding has a 40% mortality rate and 70% of survivors will have another haemorrhage within a year. To overcome this dramatic sequence the following types of prophylactic treatment have been attempted: portocaval shunt, B-blockers, endoscopic sclerotherapy. Medical Literature shows no proven benefits from these procedures. Endoscopic sclerotherapy seems to have the best results. Thus, to be more successful we suggest a better selection of patients to undergo prophylactic sclerotherapy, also improving the prognostic criteria which could predict the bleeding. Esophagoscopy makes it possible to examine some of the predictive signs of impending haemorrhage. However, both the endoscopic and clinical criteria (Child) give a better evaluation of the risk of bleeding.

[Emergency endoscopic sphincterotomy in acute lithiasic cholangitis]. / La sfinterotomia endoscopica d'urgenza per colangite acuta litiasica.

Emergency endoscopic sphincterotomy in acute cholangitis for bile duct stones should be the first choice treatment in patients with and without gallbladder. In fact, emergency surgery carries higher mortality and morbidity rates. Urgent biliary drainage, easily and quickly obtainable by endoscopy is the major goal. Bile duct stone clearance can be attempted subsequently, when the patient general conditions are stable. Elective open surgery can be performed thereafter, if indicated, with less risk. This experience is clearly shown by many surgical and endoscopic, mainly retrospective, studies.

[The pilonidal sinus: its surgical treatment, our experience and a review of the literature]. / Sinus pilonidalis: trattamento chirurgico, nostra esperienza e revisione della letteratura.

The authors report their experience in the surgical management of pilonidal sinus. During a 3-year period (1989-1991) 106 patients underwent primary closure. Average postoperative stay was 5.5 days, while mean healing time was 14.6 days. During the follow up, 3 patients developed a true recurrence (3.26%). After a critical review of the literature, the authors emphasize the importance of primary closure in the surgical treatment of pilonidal disease.

[Role of p53 gene in colorectal neoplasms]. / Ruolo del gene p53 nelle neoplasie colorettali.

A prospective study on the role of the p53 gene in sporadic colorectal neoplasms is presented and the level of mutant p53 protein was measured in the tissue removed during colonoscopy from: patients previously operated for colorectal malignant neoplasms, patients with active neoplasms, first degree relatives and during regular checks. 72% of patients with an active tumour showed a positive p53 and 38% in follow-up checks. Longer follow-up periods and a major number of patients are necessary to assess the prognostic importance of the p53 protein.

[Lymphadenopathy as specific ultrasonography index of subacute thyroiditis. Preliminary data]. / Le linfoadenopatie quale indice specifico ecotomografico di tiroidite subacuta. Dati preliminari.

INTRODUCTION: We report the preliminary results of a study on the importance of juxtajugular and supraisthmian lymph node enlargement at US as a sign of occult subacute thyroiditis. MATERIAL AND METHODS: We examined patients submitted to thyroid US for noninflammatory thyroid conditions and for positive familiarity and studied the presence of supraisthmian and juxtajugular lymph node enlargement. The patients were then divided into two groups: the clinical history, antibody titer and symptoms were studied in group A (patients with enlarged lymph nodes) and the antibody titer, symptoms and US findings were studied in group B (patients with a history of thyroiditis). RESULTS: Fifty-nine of 600 patients were allocated to group A and 25 of 600 to group B. Of the former 59 asymptomatic patients (10% of the total), 29% had supraisthmian and 85% juxtajugular lymph node enlargement, with some patients positive at both sites. Forty-seven patients (80%) had subacute thyroiditis (33 of them with positive antibodies and 23 with a clinical history); we had 12 false positives. Twenty-two of 25 group B patients (91%) had supraisthmian (40%) or juxtajugular (83%) lymph node enlargement: 3 patients with no enlarged lymph nodes had an over 3-year history of low antibody titers. DISCUSSION: Forty-seven of 600 (8%) asymptomatic patients who had been never examined are or were affected with subacute thyroiditis. Ninety-one per cent of all thyroiditis patients had supraisthmian or juxtajugular lymph node enlargement, more frequently the latter than the former. CONCLUSIONS: Supraisthmian and/or juxtajugular lymph node enlargement appears to be a very useful US sign of subacute thyroiditis, even though these data need confirmation from larger series of patients.