Search

Background: Thyroid cancer is a rare disease characterized by the subtle appearance of a nodule. Fine-needle cytology (FNC) is the first diagnostic procedure used to distinguish a benign from a malignant nodule. However, FNC yields inconclusive results in about 20% of cases. BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid carcinoma (PTC); its high prevalence makes this oncogene a useful marker to refine inconclusive FNC results. However, the prevalence of the BRAF(V600E) mutation depends on detection methods, geographical factors, and age. The aim of this study is to determine the prevalence of BRAF(V600E) mutation and its utility as a diagnostic tool in elderly subjects., Methods: FNC from 92 PTC patients were subjected to the analysis of BRAF mutation by pyrosequencing and direct sequencing; age-dependent prevalence was also determined., Results: BRAF mutation analysis was successful in all FNC specimens. BRAF(V600E) was documented in 62 (67.4%) and in 58 (63.0%) PTCs by pyrosequencing and direct sequencing, respectively. BRAF(V600E) prevalence did not correlate with patient's age at diagnosis. Twenty out of 32 PTCs (62.5%) were correctly diagnosed by BRAF mutation analysis in inconclusive FNC results., Conclusions: Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects.

Background: Primary thyroid lymphomas (PTLs) account for 5% of thyroid malignant tumors and often develop in patients with Hashimoto Thyroiditis (HT). Fine-needle cytology (FNC) is widely used in the diagnosis of thyroid nodules, including those arising in HT. Two PTL cases in HT elderly patients are here described and discussed., Methods: FNC was performed in rapidly enlarged thyroid nodules of 2 elderly patients under ultrasound (US) control. FNC was used to prepare conventional cytologic smears, immunocytochemistry (ICC) and flow cytometry (FC) assessment of cell populations., Results: The above cases were diagnosed as well differentiated, small B-cell and diffuse large B-cell thyroid lymphomas, respectively, by means of FNC. The histological diagnoses were mucosa-associated non Hodgkin lymphoma (MALT) and diffuse large B-cell lymphoma (DLBCL), confirming FNC diagnoses, and patients were treated accordingly., Conclusions: FNC diagnosis of PTL is reliable and accurate; it may be conveniently used in the clinical practice since it provides indications for appropriate therapeutic procedures or diagnostic surgery, and avoids to treat benign nodules.

Background: Amyloidosis is a systemic disease characterized by the extracellular deposition of amyloid fibrils in different organs and tissues. The thyroid gland may be affected by diffuse or nodular amyloid deposits, along with multiple myeloma (MM) (Amyloid Light-Chain Amyloidosis, AL amyloidosis) or chronic inflammatory diseases (Amyloid A Amyloidosis, AA amyloidosis), but thyroid gland involvement rarely appears as the first clinical manifestation in both conditions. The present study reports a case of primary thyroidal nodular amyloid goiter diagnosed by fine-needle cytology (FNC) in an elderly patient., Case Report: A 66-year-old female patient presented with dysphagia and hoarseness; the patient suffered from rheumatoid arthritis but did not have kidney failure or altered thyroid function. Ultrasound examination (US) showed a 30 mm irregular, hypoechoic area in the left thyroid lobe. FNC showed abundant, dense and amorphous material similar to the one stained in purple at Diff-Quik stain and pinkish at the Papanicolaou. Spindle cells with thin, bland and bent nuclei were scattered in this material; few thyroid follicular cells were also present. An alcohol-fixed smear was stained with Congo red: the amyloid material appeared cherry red and it also showed apple-green birefringence when observed with a polarizing microscope. A differential diagnosis between different thyroid pathologies was considered and the cytological diagnosis of nodular amyloid goiter was pointed out. The patient underwent thyroid lobectomy and the subsequent histological examination confirmed the cytological diagnosis., Conclusions: FNC is a safe and effective procedure for the diagnosis of thyroid amyloidosis. Congo red-stained smears can be used to demonstrate the presence of amyloid material, showing the typical green birefringence under polarized light. An early and accurate cytological diagnosis may suggest an hematological screening and the appropriate treatment for the thyroid nodule.

Background: Anaplastic thyroid cancer (ATC) is a rare, lethal disease associated with a median survival of 6 months despite the best multidisciplinary care. Surgical resection is not curative in ATC patients, being often a palliative procedure. Multidisciplinary care may include surgery, loco-regional radiotherapy, and systemic therapy. Besides conventional chemotherapy, multi kinase-targeted inhibitors are emerging as novel therapeutic tools. The numerous molecular alteration detected in ATC are targets for these inhibitors. The aim of this review is to determine the prevalence of the major genetic alterations occurring in ATC and place the results in the context of the emerging kinase-targeted therapies., Methods: The study is based on published PubMed studies addressing the prevalence of BRAF, RAS, PTEN, PI3KCA and TP53 mutations and RET rearrangements in ATC., Results: 21 articles dealing with 652 genetic analyses of the selected genes were used. The overall prevalence determined were the following: RET/PTC, 4%; BRAF, 23%; RAS, 60%; PTEN, 16%; PI3KCA, 24%; TP53, 48%. Genetic alterations are sometimes overlapping., Conclusions: Mutations of BRAF, PTEN and PI3KCA genes are common in ATC, with RAS and TP53 being the most frequent. Given ATC genetic complexity, effective therapies may benefit from individualized therapeutic regimens in a multidisciplinary approach.

Descending necrotizing mediastinitis is a life-threatening complication of an oropharyngeal infection that requires prompt and aggressive medical and surgical therapy. Herein, we report unusual case of man suffering of sub-acute mediastinal infection due to odontoiatric abscess which exacerbated at 3 months after its first presentation. Chest X-ray and CT scan demonstrated soft-tissue swelling of the neck and encapsulated fluid collections with gas bubbles within anterior mediastinum, especially on the right side. Bilateral anterior neck dissections were performed and blunt dissection, irrigation and debridement were carried out to several centimetres below the sternal manubrium. Then, right standard thoracotomy was performed with debridement of the anterior mediastinum. Four tubes were placed in the mediastinum and pleural cavity on the right side, and two tubes were placed in the left thoracic cavity. Follow-up CT scans of neck and chest showed the resolution of infection.

Background: Long standing Hashimoto Thyroiditis (HT) causes shrinking and atrophy of the thyroid, but may also lead to diffuse enlargement of the gland and/or formation of nodules. These nodules should be differentiated from papillary thyroid carcinoma (PTC) and primary thyroidal non-Hodgkin lymphoma (PTL), which are possible complications of HT, and require pre-surgical diagnoses and different treatments., Methods: Thirty-four elderly patients (≥ 65 yrs) with HT and diffuse or nodular enlargement of the thyroid underwent ultrasound (US)-guided FNC. Smears were routinely stained and evaluated; additional passes were used for flow cytometry (FC) assessment of lymphoid infiltrate in 6 cases., Results: The cytological diagnosis was HT in 12 cases with prevalence of Hurtle cells in 2 cases, PTC in 1 case and PTL in 2 cases. FC assessed the reactive, non-lymphomatous nature of the lymphoid infiltrate in 5 cases and demonstrated light chain restriction, hence the lymphomatous nature of the lymphoid infiltrate in 2 cases of PTL., Conclusions: FNC plays a key role in the clinical surveillance and pre-surgical diagnosis of diffuse enlargement and nodular presentation of HT in elderly patients. FNC can correctly diagnose HT, PTC and PTL indicating the need for surgery and its extension in suspicious or neoplastic cases, leaving other cases to the medical treatment and clinical surveillance.

Pulmonary sequestration is an uncommon disease, accounting for only approximately 1.5% of all congenital pulmonary malformations. In most cases, the diagnosis is a result of accidental radiological findings; it is rarely accompanied by clinical symptoms, and is more commonly associated with other congenital malformations. Herein, we reported a case of pulmonary sequestration presented as massive left hemothorax and associated with primary lung sarcoma. A pneumonectomy via thoracotomy was attended with complete resection of sequestration and of sarcoma. The postoperative course was unremarkable, and the patient was discharged on postoperative day 11.

The mechanical stapler is routinely used in thoracic surgery practice to attend resection of bronchus and vessels. Herein, we reported a very rare complication as the migration of a titanium surgical clip through a right lobectomy stump. One year after the procedure, the patient complained of persistent cough. A misdiagnosis of asthma was made and she treated for 6 months with bronchodilators, corticosteroid and antihistaminic without success. Thus, patient re-referred of our unit. No clinical signs of infection as fewer, productive cough, dyspnea were present. The laboratory exams were within normal value including white cells. CT scan revealed no abnormalities. Bronchoscopy demonstrated a healed upper bronchus stump without evidence of an actual, open bronchopleural fistula but with clips apparently working their way into the airway, with approximately half of the clip visible within the lumen. The side of the clips that would be open before closure by the surgeon formed the leading edge of the clips visible in the lumen. The clips were successfully removed during flexible bronchoscopy with a forceps usually used for biopsy. After the procedure, the cough disappeared. The endoscopy check after 3 months showed a normal bronchial stump without evidence of fistula.

Background: Malignant tumours of minor salivary glands are uncommon, representing only 2-4% of all head and neck cancers. In the larynx, minor salivary gland tumours rarely occur and constitute less than 1% of laryngeal neoplasm. Most of the minor salivary gland tumours arise in the subglottis; however, they can also occur in the supraglottis, in the false vocal cords, aryepiglottic folds and caudal portion of the epiglottis. The most common type of malignant minor salivary gland tumour is adenoid cystic carcinoma., Methods: We present a unusual case of adenoid cystic carcinoma of glottic-subglottic region in a 61-year-old woman. Follow-up endoscopy and laryngeal magnetic resonance imaging (MRI) at three years after treatment showed no recurrence of the tumour., Results: The diagnosis of glottic-subglottic adenoid cystic carcinoma should be considered in patients who are characterized by dyspnea, cough and stridor, but do not respond to pharmacologic approach., Conclusions: Adenoid cystic carcinoma is usually a very slow growing cancer, invested by an apparently normal laryngeal mucosa, so that it can show no clear symptoms for a long time. For these reasons the increasing number of diagnostic mistakes or late diagnosis that may be fatal in some cases.

Background: Liver represents the main organ subject to metastases from colorectal tumors. Resections of liver metastases from colorectal cancer have a well-considered therapeutic role underlined by survival of 5 years by approximately 50-60% of surgical cases as is deduced from an analysis of the most recent literature. The objective of surgery is to eradicate the metastases present and obtain a margin free from neoplastic impact of amplitude of approximately 1 cm with residual liver quantity at the end of the intervention that allows the patient to survive. Currently the dimensions and the number of colorectal liver metastases (CRLM) do not limit the hepatectomy. Purpose of this work is to evaluate the survival, according to our case studies of patients treated only with the wedge resection (atypical resection) approximately 1 cm from the margins of metastases., Methods: In "A. Rizzoli" Lacco Ameno Hospital (Ischia), from 2005 to 2010, 12 liver resections were performed for metastases from colorectal carcinoma with atypical resection. Synchronous surgical treatment with resection of the colorectal carcinoma and metastases was performed in 6 patients, 2 female and 4 male (Group 1). Surgical liver metastasectomy post-colectomy was performed on 6 patients, 3 female and 3 male (Group 2)., Results: No patient was treated with chemotherapy. The mortality rate of intraoperative and perioperative infection was in both cases of 0%. Survival:11 patients treated surgically from 2005-2010 with synchronous surgery resection (Group 1) and liver metastasectomy (Group 2) are currently living. One 77-years-old patient died three years after surgery for BPCO., Conclusions: This result was able to be obtained due to the wedge resection technique routinely used in our Hospital, associated with the indispensable use of intraoperatory ultrasound (IOUS). Significant differences between the synchronous and non-synchronous intervention emerged only regarding the number of days of hospital stay, higher in the first case.

Choriocarcinoma is a germ cell tumor containing syncytiotrophoblastic cells and secreting human Beta-HCG. Primary choriocarcinoma of the lung is extremely uncommon. The prognosis of this tumor is extremely poor, despite surgical and chemotherapeutic treatment. We report a surgically treated case of choriocarcinoma in a 37-year-old woman who came to our attention because of a isolated lung lesion. The tumor was successfully resected. Chemotherapy was started 2 months after thoracic surgery and consisted of bleomycin, etoposide, and cisplatin. At 1-year follow-up the patient is alive in good condition. The hCG level is actually normal.

Background: Fibrosarcoma (FS) accounts for about 3% of all soft tissue sarcomas. It may arise in any area of the body, but it is relative rare in the head and neck district. Fine-needle cytology (FNC) is widely used in the diagnosis of neoplastic and non-neoplastic lesions of soft tissue. This article describes a case of FS of the neck diagnosed by FNC., Methods: FNC was performed in a sub-fascial supraclavicular mass of an elderly patient under ultrasound (US) control. FNC was used to prepare cytological smears that were conventionally and immunocytochemically (ICC) stained., Results: Smears showed a monomorphous spindle cell population and were positive at ICC for Vimentin and negative for CKAE1AE3, Actin, S-100, CD68, CT and PAX-8. The cytological diagnosis was confirmed by histological diagnosis. The patient underwent surgical resection and subsequent radiotherapy., Conclusions: FNC diagnosis of FS is reliable and accurate and may be conveniently used in the scheduling of surgical procedures, when needed, avoiding the treatment of benign nodules.

Background: Ultrasound is considered the best diagnostic method for the detection of metastatic cervical lymph nodes (LNs) in patients with papillary thyroid carcinoma (PTC). According to current guidelines, all patients undergoing thyroidectomy for malignancy should undergo preoperative neck ultrasound of the thyroid and central and lateral neck LNs, followed by fine needle aspiration of suspicious LNs. Cervical LN involvement determenes the extent of surgery. Complete surgical resection disease at the initial operation decreases likelihood of future surgery for recurrent disease and may impact survival. We use a new technique, B-flow imaging (BFI), recently used for evaluation of thyroid nodules, to estimate the presence of BFI twinkling signs (BFI-TS), within metastatic LNs in patients with PTC., Methods: Between September 2006 and December 2012, 304 patients with known PTC were examined for preoperative sonographic evaluation with gray-scale US, color Doppler US and BFI. Only 157 with at least one metastatic LN were included in our study. All patients included underwent surgery, and the final diagnosis was based on the results of histologic examination of the resected specimens. The following LN characteristics were evaluated: LN shape, abnormal echogenicity, the absent of hilum, calcifications, cystic appearance, peripheral vascularization and the presence of BFI-TS., Results: A total of 767 LNs were analyzed. 329 out of 767 were metastatic, according to the histopathologic findings. BFI-TS, showed 99.5% specificity and 81,5% sensitivity. We detected BFI-TS in 6 metastatic LNs that were negative to the other conventional US features., Conclusions: Our results indicate that the BFI-TS has a diagnostic accuracy higher than the other conventional sonographic signs. Our findings suggest that BFI can be helpful in the selection of suspicious neck LNs that should be examined at cytologic examination or open biopsy for accurate preoperative staging and individual therapy selection.