Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Cytological diagnosis of adult-type fibrosarcoma of the neck in an elderly patient. Report of one case and review of the literature.

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.

Early cytological diagnosis of extranodal stage I, primary thyroid Non-Hodgkin lymphoma in elderly patients. Report of two cases and review of the literature.

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.

An unusual case of primary choriocarcinoma of the lung.

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.

Pulmonary sequestration presented as massive left hemothorax and associated with primary lung sarcoma.

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.

Nodular goiter with amyloid deposition in an elderly patient: fine-needle cytology diagnosis and review of the literature.

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.

Cytological diagnosis of thyroid nodules in Hashimoto thyroiditis in elderly patients.

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.

Unusual case of exacerbation of sub-acute descending necrotizing mediastinitis.

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.

Migration of surgical clips through a right lobectomy stump mimicking an asthmatic syndrome.

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.

Diagnostic utility of BRAFV600E mutation testing in thyroid nodules in elderly patients.

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.

Genetic mutations in the treatment of anaplastic thyroid cancer: a systematic review.

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.

[Sub-acute thyroiditis in a patient on immunosuppressive treatment]. / Tiroidite subacuta in un paziente in trattamento immunosoppressivo.

Sub-acute thyroiditis or De Quervain's thyroiditis is a viral, inflammatory disease which causes the serum release of thyroidal hormones and hyperthyroidism. The pathogenesis of thyroid follicle damage is unclear because the exclusive viral action or a concomitant autoimmune component, determined by the lymphoid infiltrate remain to be assessed. We describe the case of a patient under immunosuppressive treatment, who developed sub-acute thyroiditis with hormone release and hyperthyroidism. The patient, while was under immunosuppressive treatment for kidney transplant, exhibited a clinical picture and hormonal profile of hyperthyroidism. Thyroid scintiscan exhibited an extremely low uptake. Fine-needle cytologic diagnosis was granulomatous sub-acute thyroiditis (De Quervain's thyroiditis). This case suggests the primary or even exclusive role of the viral infection in hormone release and hyperthyroidism in sub-acute thyroiditis, excluding an autoimmune component.

[Cytological diagnosis of lymph nodes by instrumental guide: ultrasonography and CT]. / La diagnosi citologica dei linfonodi con guida strumentale: ecografia e TC.

Imaging techniques, such as ultrasound imaging, computed tomography, positron emission tomography or magnetic resonance imaging, are highly accurate procedures for the detection of lymph node enlargement, but none of them has the same sensitivity in the biological definition and in the cause of enlargement. Therefore, a direct evaluation of corresponding lymph nodes is necessary in most cases and fine needle cytology (FNC) is one of the most frequently used techniques for this purpose. The same imaging procedures are often used to perform targeted biopsies including FNC. This study discusses procedures, indications, advantages and limitations of imaging techniques as a support to FNC.

[Two cases of EGFR-mutated lung adenocarcinoma treated with bronchial recanalization and first-line therapy with afatinib.] / Due casi di adenocarcinoma del polmone EGFR mutati trattati con ricanalizzazione bronchiale e terapia di prima linea con afatinib.

In 2019, we admitted two non-smoking patients with severe dyspnea from invasion of the main airway due to lung cancer. The patients were 57 and 67 years old; both presented with critical stenosis due to infiltration of the right main bronchus and in both cases, due to severe respiratory insufficiency, an indication of unclogging of the right stenotic main bronchus with rigid bronchoscope and Laser yttrium aluminum perovskite (YAP)-Nd in the operating room was given. At the end of the recanalization operation, a tracheobronchial prothesis, the GSS-Y 40x30x30 mm by Novatech, was positioned in Case 1; a nitinol self-expanding prothesis, the SILMET® 14x40 mm by Novatech, was positioned in Case 2. Once the histological diagnosis of EGFR-mutated adenocarcinoma was established, we started first-line treatment with afatinib 40 mg die tablets.

Minimally invasive surgery for achalasia: combined experience of two European centers.

BACKGROUND: The present report summarizes 12 cases with achalasia treated with laparoscopic Heller myotomy and anterior fundoplication according to the method of Thal and Dor. PATIENTS AND METHODS: From 1997 to 2005 at 2 institutions in Europe, 12 patients (7 male and 5 female, ages ranging from 3.5 to 7 years) were treated for esophageal achalasia (EA) with laparoscopic Heller myotomy and anterior fundoplication according to Thal and Dor. In 1 case a perforation of the esophageal mucosa occurred, which was promptly treated during surgery. Follow-up ranged from 18 to 60 months and included clinical examination and barium radiography of the upper digestive tract. RESULTS: Postoperatively, 10 patients showed a normal weight curve and complete resolution of symptoms. All patients showed complete regression of digestive and respiratory symptoms from the first examination, with a normal oral meal intake and an improvement of weight and height parameters. One case required repeat intervention after 2 years because of persisting pain; in this case surgery revealed an insufficient myotomy. CONCLUSIONS: Modified extramucosal Heller cardiomyotomy associated with 180 degree anterior antireflux plastic surgery (according to Thal and Dor's procedures) is a useful and safe procedure in the treatment of EA in pediatric patients. Our data, which are supported by long-term follow-up, also stress the relevance of anterior fundoplication in preventing postoperative gastroesophageal reflux.

Da Vinci Robotic Surgery in a Pediatric Hospital.

INTRODUCTION: Since the use of robotic surgery (RS) revolutionized some adult surgery procedures such as radical prostatectomy, it has been progressively and increasingly introduced in pediatric surgery. The aim of this study is to evaluate how the Da Vinci® Si HD technology impacts a pediatric public hospital and to define the use of a robotic system in pediatric surgery. MATERIALS AND METHODS: We prospectively included patients older than 6 months of age undergoing RS or conventional minimal access surgery (MAS): Study period ranges between February 2015 and April 2016. Surgical indications were defined after a detailed disease-specific diagnostic work-up. We analyzed surgical outcomes and the most relevant economic aspects. The 30-day postoperative complications were evaluated and retrospectively collected in an electronic database. RESULTS: From February 2015 to April 2016, we performed 77 procedures with RS and 84 with conventional MAS in patients with a median age of 77 and 98 months at surgery and a median weight of 20 and 23 kg, respectively. Median operative times were 130 and 109 minutes, respectively. We observed 9.1% of complications in the RS group and 6% in the MAS group and the difference was not statistically significant. Of note, 8 out of 77 RS procedures would have been performed with open classic surgery in case of conversion or failure of RS. CONCLUSIONS: This initial experience confirms that RS is as safe and effective as conventional MAS. A number of selected procedures performed with RS would only benefit from this approach, as it is not suitable for conventional MAS. Although economically demanding, in particular for a pediatric hospital, we firmly believe that centralization of care would allow pediatric surgeons adopting RS to perform complex reconstructive surgical procedures with great advantages for the patients and a minimal increase in overall costs for the health system.

Pediatric parenteral nutrition-associated liver disease and cholestasis: Novel advances in pathomechanisms-based prevention and treatment.

Parenteral nutrition constitutes a life-saving therapeutic tool in patients unable to ingest/absorb oral or enteral delivered nutrients. Liver function tests abnormalities are a common therapy-related complication, thus configuring the so-called Parenteral Nutrition Associated Liver Disease (PNALD) or cholestasis (PNAC). Although the damage is frequently mild, and resolves after discontinuation of parenteral nutrition, in some cases it progresses into cirrhotic changes, especially in neonates and infants. We present a literature review focusing on the pathogenetic mechanisms-driven prevention and therapies for the cases where parenteral nutrition cannot be discontinued. Ursodeoxycholic acid has been proposed in patients with cholestatic hepatopathy, but its efficacy needs to be better established. Little evidence is available on efficacy of anti-oxidants, antibiotics, probiotics and anti TNFα. Lipid emulsions based on fish oil with a high content of long-chain polyunsaturated fatty acids ω-3 appear effective both in decreasing intrahepatic inflammation and in improving biliary flow. Most recent promising variations such as soybean/MCT/olive/fish oil emulsion [third generation lipid emulsion (SMOFlipid)] are under investigation. In conclusion, we remark the emergence of a number of novel pathomechanisms underlying the severe liver impairment damage (PNALD and PNAC) in patients treated with parenteral nutrition. Only few traditional and innovative therapeutic strategies have hitherto been shown promising.

Serum levels of inhibin B in adolescents after varicocelelectomy: A long term follow up.

INTRODUCTION: To study the impact on adult's fertility of serum inhibin B levels in adolescent patients with idiopathic varicocele after minimally invasive surgical correction and to compare fluctuation of pituitary-testis hormonal values and testicular volumes. MATERIALS AND METHODS: A case-control study was carried out on a group adolescent patients (n=60) affected by idiopathic left varicocele (group V) and compared with control adolescents (n=40) in the Paediatric Surgery Section of Siena (from June 1993 till September 2013). Inhibin B levels and testicular volume before (T0) and after at 6 and 12 months from surgery (T1 and T2) were evaluated. RESULTS: A positive correlation between testicular growth at T1 and T2 (P<0.001) was found. Linear regression analysis showed a positive correlation between inhibin B levels and testicular volume (expressed as the sum of the right and left values) (P<0.0001). CONCLUSIONS: Inhibin B levels are a valid marker for studying the effects of varicocele on the testicular function and confirm the necessity of early surgical correction for preventing the trophic testicular damage and male infertility.

Prenatal diagnosis, 3-D virtual rendering and lung sparing surgery by ligasure device in a baby with "CCAM and intralobar pulmonary sequestration".

Congenital cystic lung lesions are a rare but clinically significant group of anomalies, including congenital cystic adenomatoid malformation (CCAM), pulmonary sequestration, congenital lobar emphysema (CLE) and bronchogenic cysts. Despite the knowledge of these lesions increasing in the last years, some aspects are still debated and controversial. The diagnosis is certainly one aspect which underwent many changes in the last 15 years due to the improvement of antenatal scan and the introduction of 3-D reconstruction techniques. As it is known, a prompt diagnosis has an essential role in the management of these children. The new imaging studies as 3D Volume rendering system are the focus of this paper. We describe our preliminary experience in a case of hybrid lung lesion, which we approached by thoracoscopy after a preoperative study with 3D VR reconstruction. Our final balance is absolutely positive.