Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.

BACKGROUND: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. CASE PRESENTATION: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.

Mode of Mechanical Ventilation in a Case of Venolymphatic Malformation: Spontaneous-Saves, Positive-Precludes.

Mediastinal venolymphatic malformations (VLM) are rare tumours, with very few reported cases in the literature. Arising often from the anterior mediastinum, VLM manifests symptoms based on invaded surrounding structures. Masses from the anterior and superior mediastinum pose an anaesthetic challenge for airway and hemodynamic management. A 7-month-old male child presented with a progressively growing mass over the left anterior chest wall for one month, about 4x4 cm, with diffuse margins and now expanded to involve the root of the neck and into the axilla. The patient was free from any apparent systemic illness. The breathing difficulty worsened in the past week with noisy respiration associated with feeding difficulty and hence sought medical admission to the paediatrics emergency unit. In conclusion, such huge mediastinal masses are managed better under spontaneous ventilation with an adequate surgical depth of anaesthesia to maintain appropriate respiratory compliance and necessitate lower peak inspiratory pressure. Given rare cases reported in the literature, similar topics would help choose the modus of ventilation and their safe management.

Ultrasound-Guided Needle Biopsy as an Alternative to Chamberlain's Mediastinotomy and Video-Assisted Thoracoscopic Surgery (VATS) in the Diagnosis of Anterior Mediastinal Neoformations: A Retrospective Analysis.

(1) Background: The prompt diagnosis of anterior mediastinal lesions is a challenge due to their often being categorized as malignant tumours. Ultrasound-guided Transthoracic Core Needle Biopsy (US-TCNB) is an innovative technique that is arousing increasing interest in clinical practice. However, studies in this area are still scarce. This study aims to compare the diagnostic accuracy and complication rate of US-TCNB with those of traditional surgical methods-Anterior Mediastinotomy and Video Assisted Thoracoscopic Surgery (VATS)-in patients with anterior mediastinal lesions. (2) Methods: This retrospective study involved patients evaluated between January 2011 and December 2021 who had undergone US-TCNB at the Interdepartmental Unit of Internal and Interventional Ultrasound, Molinette Hospital, Città della Salute e della Scienza, Turin, Italy. Personal data, diagnostic questions, and technical information concerning the bioptic procedure, periprocedural complications and histological reports were collected. (3) Results: Eighty-three patients were included in the analysis. Histological examination was performed in 78 cases, with an overall diagnostic accuracy of 94.0% (sensitivity 94%; specificity 100%). Only in 5 patients was a diagnosis not achieved. Complications occurred in 2 patients who were quickly identified and properly treated without need of hospitalization. The accuracy of US-TCNB was comparable to the performance of the main traditional diagnostic alternatives (95.3% for anterior mediastinotomy, and 98.4% for VATS), with a much lower complication rate (2.4% vs. 3-16%). The outpatient setting offered the additional advantage of saving resources. (4) Conclusions: a US-guided needle biopsy can be considered effective and safe, and in the near future it may become the procedure of choice for diagnosing anterior mediastinal lesions in selected patients.

SMARCA4-deficient undifferentiated tumor that responded to chemotherapy in combination with immune checkpoint inhibitors: A case report.

Thoracic SMARCA4-deficient undifferentiated tumors are a new type of neoplasm that commonly occur in the mediastinum, progress rapidly, and show a poorer prognosis. We report a case of thoracic SMARCA4-deficient undifferentiated tumor in the right thoracic cavity in a patient with a history of heavy smoking and presenting with respiratory distress and hemoptysis. Imaging showed pleural effusion and thickening. A diagnostic right pleural biopsy yielded multiple white nodules and pale bloody pleural effusion accumulated in the right thoracic cavity. Histopathologically, the tumor cells were large, some exhibited rhabdoid cytology, and they were surrounded by an infiltration of inflammatory cells. These tumor cells were negative for SMARCA4, p40, NUT, and claudin-4, leading to establishing a diagnosis of thoracic SMARCA4-deficient undifferentiated malignancy. We treated the patient with atezolizumab, carboplatin, and nab-paclitaxel. The patient achieved stable disease at 7 months during this study. Although there is no standard treatment of this disease, our reported treatment may contribute to improved prognosis, requiring further research.

Síndrome de Boerhaave: manejo diagnóstico y terapéutico en el Hospital Regional de Talca / Boerhaave Syndrome: diagnostic and therapeutic management at the Hospital Regional de Talca

Introduction: Boerhaave syndrome is a spontaneous rupture of the esophageal wall caused by a sudden increase in intraesophageal pressure. It represents an incidence of approximately 15% of all esophageal perforations, which do not exceed 3.1 per 1 million inhabitants per year. Objectives: To communicate the clinical presentation and management of patients with this syndrome, as well as to reveal the different options available in our service for its treatment. Methods: Search in the statistical data of the regional Hospital of Talca for patients with a diagnosis of Boerhaave syndrome. Five patients were found. Information was obtained from their clinical records and is presented as a clinical case report with a descriptive analysis of their management. Results: Of the 5 clinical cases presented, a classic clinical presentation can be observed, most of the patients presented with vomiting that later evolved with thoracic and/or epigastric pain, associated with imaging studies suggesting esophageal perforation. Management was surgical in 100% of the cases, applying different techniques described in the literature. Discussion and Conclusion: Boerhaave syndrome is a medical-surgical emergency that requires timely management. In spite of the variety of management and the consequences of each one of them, all the patients had an evolution that allowed them to preserve their lives until nowadays. Keeping a high index of suspicion and choosing the best management will have an impact on morbidity and mortality.

A mediastinal mass causing Budd-Chiari-like syndrome in a cat.

Background: Budd-Chiari syndrome (BCS) is considered a rare condition in cats that is characterized by the obstruction of the hepatic venous outflow tract from the level of the small hepatic veins to the level of the termination of the inferior vena cava into the right atrium in the absence of cardiac or pericardial disease, or sinusoidal obstruction syndrome. Case description: This report presents a 13-year-old cat with a two-week history of progressive lethargy, inappetence, weight loss, and abdominal distension. Findings/treatment and outcome: The radiological study was consistent with pleural effusion, as well as alveolar and interstitial pulmonary patterns. Ultrasonography confirmed hepatic venin congestion and ascites. Abdominocentesis revealed a modified transudate. A computed tomography (CT) angiography showed a mass at the level of the caudal mediastinum that compressed the caudal vena cava (CVC). Mediastinal lymphoma was considered the most likely differential diagnosis. These findings were interpreted as Budd-Chiari-like syndrome (BCLS) secondary to a mediastinal mass although, unfortunately, no further diagnostic or treatment procedures were accepted by the owners. BCLS is a rare condition in cats, where most of the reported cases occurred as a result of obstruction of the caudal vena cava. In this report, BCLS was caused by a mass located in the caudal mediastinum oppressing the caudal vena cava. Conclusion: This is the first report of BCLS in cats diagnosed by CT angiography, and it shows the value of this technique to define the origin and extent of the mass and to evaluate the presence or absence of metastatic lesions.

La video mediastinoscopía en el oncotórax / The video mediastinoscopy in oncological thorax

RESUMEN Fundamento: el avance exponencial de la cirugía torácica tiene un desarrollo paralelo a las técnicas anestésicas e imagenológicas, desde la antigüedad se recogen en diferentes manuscritos los intentos de abordar este espacio corporal. Objetivo: describir la técnica de videomediastinoscopía así como las referencias anatómicas para su realización. Métodos: se realizó una descripción de la técnica de la videomediastinoscopía para la exéresis y biopsia de alteraciones mediastinales, basado en la experiencia personal y consulta bibliográfica. Se consultaron los repositorios internacionales: Ebsco, Medline y Cochrane para la obtención de las referencias relacionadas con el tema. Conclusiones: la videomediastinoscopía es una vía segura y útil para la estadificación del cáncer pulmonar la cual brinda además una clasificación patológica más exacta que las toracotomías convencionales al permitir el acceso a las zonas ganglionares superiores, aórticas y subcarinal según corresponda.

ABSTRACT Background: the exponential progress of thoracic surgery has a parallel development to anesthetic and imaging techniques; since ancient times, attempts to address this body space are collected in different manuscripts. Objective: to describe the technique of video-mediastinoscopy, as well as the anatomical references for its performance. Methods: a description of the technique of video-mediastinoscopy for the excision and biopsy of mediastinal alterations was made, based on personal experience and bibliographic consultation. The international repositories Ebsco, Medline and Cochrane were consulted to obtain references related to the subject. Conclusions: video-mediastinoscopy is a safe and useful route for lung cancer staging which also provides a more accurate pathological classification than conventional thoracotomies by allowing access to the upper, aortic and subcarinal ganglionic areas as appropriate.

Minimally Invasive Approach in Boerhaave's Syndrome: Case Series and Systematic Review.

Introduction: Boerhaave's syndrome is a life-threatening spontaneous perforation of the esophagus associated with significant morbidity and mortality. Historically, thoracotomy has been the mainstay of treatment, but is associated with high morbidity and pain. Minimally invasive approaches provide alternative treatment possibilities. This systematic review together with inclusion of a case series from a tertiary esophagogastric unit assesses current evidence focused on minimally invasive surgical management of this condition. Methods: A systematic review was conducted in line with MOOSE (Meta-analyses Of Observational Studies in Epidemiology) guidelines. Electronic databases PubMed, MEDLINE, and Cochrane Library were searched, and articles focusing on the minimally invasive management of Boerhaave's syndrome were identified and scrutinized. We also report demographics and outcomes for a consecutive case series of patients with acute Boerhaave's syndrome managed via thoracoscopy. Results: Fifteen studies were included comprising 5 retrospective cohort studies and 10 case reports. Management strategies were divided into three categories: thoracoscopic, endoscopic, and laparoscopic. Overall mortality rates for each treatment modality were 2%, 13%, and 33%, and treatment success rates 98%, 38%, and 67%, respectively. Postoperative infective complications were seen in 79% of patients, with only 2 patients requiring salvage thoracotomy. In our local case series, we report 4 consecutive patients managed with thoracoscopy, with a 100% treatment success rate. Conclusion: Minimally invasive approaches in the management of Boerhaave's syndrome are safe and effective. We propose a selective management algorithm involving a minimally invasive approach to management of this life-threatening condition. Registered with local clinical outcomes team as service evaluation. (Approval number sev/0171).

Endosonographic evaluation of the mediastinum through the i-gel O2 supraglottic airway device.

INTRODUCTION: Endobronchial ultrasound (EBUS) is an endoscopic diagnostic procedure combining flexible fibrobronchoscopy with ultrasound techniques; it allows transbronchial needle aspiration biopsy for the diagnosis and staging of mediastinal masses. We present our preliminary experience with the use of the i-gel O2 supraglottic airway device for management of EBUS procedures. METHODS: An observational study on 39 patients who underwent EBUS under general anesthesia was performed. Airways were managed with i-gel O2 by anesthesiologists unfamiliar with it. Data collected included patient characteristics, i-gel O2 positioning, mechanical ventilation, procedure, and complications occurring during and after the EBUS. RESULTS: The i-gel airway was successfully positioned during the first attempt in 34/39 cases (87.2%). No failed positioning was recorded. The EBUS scope easily passed through the i-gel in all patients and in 14 (35.6%) cases it was also inserted through the esophagus allowing the examination or fine needle aspiration of paraesophageal lymph nodes. In one case, during the EBUS procedure, the i-gel was dislocated but easily put in place again. During EBUS, air leakages were significant in 2 cases (5.1%) and minimal in 14 cases (35.9%). A brief self-solved laryngospasm and a bronchospasm during bronchoscopy were recorded. After recovery, no patients had dysphagia; mild odynophagia and pharyngodinia were referred by 2 (5.1%) and 12 (30.1%) patients, respectively. CONCLUSIONS: The i-gel O2 airway is easy to position and manage even for anesthesiologists unfamiliar with it. This supraglottic airway device is suitable for a complete endosonographic evaluation of the mediastinum.

The value of radiomics based on chest CT plain scan in the differential diagnosis of thymoma and other anterior mediastinal lesions / 肿瘤研究与临床

Objective:To explore the diagnostic value of radiomics features based on chest CT plain scan in differentiating thymoma from other anterior mediastinal lesions.Methods:The data of 128 patients with anterior mediastinal lesions from January 2018 to January 2021 in the Affiliated Hospital of Jiangsu University were retrospectively analyzed. According to the pathological criteria, all patients were divided into thymoma group (67 cases) and non-thymoma group (61 cases). The radiomics analysis module based on MATLAB platform was used to analyze images of CT plain scan, and then radiomics features of the whole lesions were extracted. The radiomics features were screened by using group difference analysis, Boruta algorithm and collinearity detection stepwise. The receiver operating characteristic (ROC) curves for the single diagnosis and the combined diagnosis of thymoma were plotted with the selected features, and the area under the curve (AUC) was calculated to analyze the diagnostic performance of the selected features.Results:A total of 851 radiomics features were extracted, and 4 radiomics features with statistically significant differences were finally selected after multi-step dimensionality reduction, including robust mean absolute deviation, gray level non-uniformity, wavelet-LLH run variance and wavelet-HLL dependence non-uniformity. ROC curves analysis showed that the AUC of 4 radiomics features was 0.712, 0.634, 0.660 and 0.699, respectively in the single diagnosis; the specificity was 70.2%, 61.2%, and 61.2%, respectively; and the sensitivity was 60.7%, 60.6%, 68.8% and 70.5%, respectively. AUC value of the four combined detection was 0.881, the sensitivity and specificity was 75.4% and 89.6%, respectively; and the diagnostic efficiency was significantly improved.Conclusion:The radiomics features based on CT plain sans have a certain value and application potential in the differential diagnosis of thymoma and other anterior mediastinal lesions.

[Minimally invasive treatment of post-burn esophageal perforation]. / Miniinvazivnoe lechenie posleozhogovoi perforatsii pishchevoda.

Perforation of the esophagus is a serious and dangerous condition due to progressive development of mediastinitis and sepsis. This disease is often fatal. In the last decade, endoscopic stenting of the esophagus became more common in these patients as an alternative to traditional surgery. We report successful minimally invasive endoscopic treatment of esophageal perforation with post-burn necrosis of its wall.

Imaging features and differential diagnoses of non-neoplastic diffuse mediastinal diseases.

Acute or chronic non-neoplastic diffuse mediastinal diseases have multiple causes, degrees of severity, and a wide range of management. Some situations require emergency care while others do not need specific treatment. Although the diagnosis may be suspected on chest X-ray, it is mainly based on CT. A delayed recognition is not uncommonly observed. Some findings may prompt the radiologist to look for specific associated injuries or lesions.This pictorial review will successively describe the various non-neoplastic causes of diffuse mediastinal diseases with their typical findings and major differentials.First, pneumomediastinum that can be provoked by extra- or intra-thoracic triggers requires the knowledge of patient's history or recent occurrences. Absence of any usual etiological factor should raise suspicion of cocaine inhalation in young individuals.Next, acute mediastinitis may be related to post-operative complications, esophageal perforation, or contiguous spread of odontogenic or retropharyngeal infections. The former diagnosis is not an easy task in the early stage, owing to the similarities of imaging findings with those of normal post-operative appearance during the first 2-3 weeks.Finally, fibrosing mediastinitis that is linked to an excessive fibrotic reaction in the mediastinum with variable compromise of mediastinal structures, in particular vascular and airway ones. Differential diagnosis includes tumoral and inflammatory infiltrations of the mediastinum.

Value of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the diagnosis of lung and mediastinal lesions

SUMMARY OBJECTIVE: To evaluate the value of EBUS-TBNA in the diagnosis of lung and mediastinal lesions. METHODS: Prospective cohort study that included 52 patients during a 2-year period (2016 to 2018) who underwent EBUS-TBNA. RESULTS: Among the 52 individuals submitted to the procedure, 22 (42.31%) patients were diagnosed with locally advanced lung cancer (N2 or N3 lymph node involvement). EBUS-TBNA confirmed the diagnosis of metastases from other extrathoracic tumors in the mediastinum or lung in 5 patients (9.61%), confirmed small cell lung cancer in 3 patients (5.76%), mediastinal sarcoidosis in 1 patient (1.92%), and reactive mediastinal lymph node in 8 patients (15.38%); insufficient results were found for 3 patients (5.76%). Based on these results, EBUS-TBNA avoided further subsequent surgical procedures in 39 of 52 patients (75%). The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 86%, 100%, 100%, 77%, and 90%, respectively. No major complications were observed. CONCLUSIONS: EBUS-TBNA is a safe, effective, and valuable method. This technique can significantly reduce the rate of subsequent surgical procedures required for the diagnosis of lung and mediastinal lesions.

RESUMO OBJETIVO: Avaliar a importância da ecoendoscopia endobrônquica com punção por agulha fina (Ebus-TBNA) no diagnóstico das lesões pulmonares e mediastinais. MÉTODOS: Estudo prospectivo e do tipo coorte, no qual foram incluídos 52 pacientes, durante o período de dois anos (2016 a 2018), submetidos ao procedimento de Ebus-TBNA. RESULTADOS: Do total de 52 indivíduos submetidos ao procedimento, 22 (42,31%) pacientes foram diagnosticados com neoplasia pulmonar localmente avançada (N2 ou N3). O método confirmou o diagnóstico de metástases de outros tumores extratorácicos no mediastino ou pulmão em cinco pacientes (9,61%), três pacientes (5,76%) com carcinoma de pequenas células, um paciente (1,92%) com sarcoidose, oito pacientes (15,38%) com linfonodomegalias reacionais/inflamatórias e resultado insuficiente em três pacientes (5,76%). O Ebus-TBNA evitou a realização de outros procedimentos cirúrgicos subsequentes em 39 de 52 (75%) pacientes. Foram calculados os valores de sensibilidade de 86%, especificidade de 100%, valor preditivo positivo de 100%, valor preditivo negativo de 77% e acurácia de 90%. Não foram observadas complicações maiores pelo método neste estudo. CONCLUSÃO: O Ebus-TBNA é um método seguro, eficaz e de relevante importância. Este exame pode reduzir significativamente o número de procedimentos invasivos subsequentes necessários para o diagnóstico das lesões pulmonares e mediastinais.

Endobronchial ultrasound-guided transbronchial needle aspiration combined with either endoscopic ultrasound-guided fine-needle aspiration or endoscopic ultrasound using the EBUS scope-guided fine-needle aspiration for diagnosing and staging mediastinal diseases: a systematic review and meta-analysis

The present systematic review and meta-analysis aimed to evaluate the available evidence base on endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) combined with either endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) or endoscopic ultrasound using the EBUS scope-guided fine-needle aspiration (EUS-B-FNA) for diagnosing and staging mediastinal diseases. PubMed, Web of Science, and Embase were searched to identify suitable studies up to June 30, 2019. Two investigators independently reviewed articles and extracted relevant data. Data were pooled using random effect models to calculate diagnostic indices that included sensitivity and specificity. Summary receiver operating characteristic (SROC) curves were used to summarize the overall test performance. Data pooled from up to 16 eligible studies (including 10 studies of 963 patients about EBUS-TBNA with EUS-FNA and six studies of 815 patients with EUS-B-FNA) indicated that combining EBUS-TBNA with EUS-FNA was associated with slightly better diagnostic accuracy than combining it with EUS-B-FNA, in terms of sensitivity (0.87, 95%CI 0.83 to 0.90 vs. 0.84, 95%CI 0.80 to 0.88), specificity (1.00, 95%CI 0.99 to 1.00 vs. 0.96, 95%CI 0.93 to 0.97), diagnostic odds ratio (413.39, 95%CI 179.99 to 949.48 vs. 256.38, 95%CI 45.48 to 1445.32), and area under the SROC curve (0.99, 95%CI 0.97 to 1.00 vs. 0.97, 95%CI 0.92 to 1.00). The current evidence suggests that the combination of EBUS-TBNA with either EUS-FNA or EUS-B-FNA provides relatively high accuracy for diagnosing mediastinal diseases. The combination with EUS-FNA may be slightly better.

Síndrome de Klinefelter diagnosticado en un adulto a raíz del estudio de infección respiratoria recurrente y masa mediastínica: caso clínico / Thymoma in a patient with klinefelter syndrome: case report

Klinefelter syndrome (47, XXY in most cases) is a frequently underdiagnosed chromosomal anomaly associated with multiple comorbidities in adult life. Patients with Klinefelter syndrome have a higher risk of cancer. Specifically, these patients have a higher risk for mediastinal germ cell tumors. It is estimated that 8% of male patients with mediastinal tumors have Klinefelter. We report a 42-years-old male who suffered recurrent respiratory infections. During the study, a mediastinal mass was found, whose pathological study disclosed a type B thymoma. The patient had a history of infertility, high stature, gynecomastia, obesity with gynecoid distribution of body fat and testicular atrophy. A karyotype was requested (47, XXY), confirming the diagnosis of Klinefelter syndrome.

Surgical management of esophageal perforation: role of primary closure.

OBJECTIVE: Esophageal perforation is a life-threatening condition associated with high mortality and morbidity. Ambiguous clinical presentation is one of the most common causes of delayed and difficult diagnosis of esophageal perforation. In this retrospective single-center study, we reviewed the outcome of primary closure in patients with esophageal perforation between 2009 and 2017. METHODS: The data of 65 patients attending our department of thoracic surgery (from 2009 to 2017) for esophageal perforation were reviewed. Primary repair was attempted in 63 patients irrespective of the site of perforation and time interval between injury and hospital admission. In intrathoracic lesions, continuous mediastinal and pleural irrigation was undertaken, whereas in cervical perforations, gauze packing and local irrigation were performed. Jejunotomy was carried out in patients with inadequate healing. RESULTS: Of the 65 patients, 63 underwent primary closure and 2 were left to heal spontaneously. The majority of patients ( n = 44) had an esophageal perforation at the thoracic level, and only one was admitted early (<24 h after injury). Among the 63 patients managed with primary closure, 55 had satisfactory healing with one surgery. Healing was delayed in the other 10 patients. No mortality was reported. CONCLUSIONS: Esophageal perforation can be well managed by primary closure, irrespective of the time interval between injury and hospital admission and the site of perforation. Conservative management might lead to an increased rate of complications such as empyema or necrotizing mediastinitis, and increased morbidity and mortality.

Video-assisted thoracoscopic surgery for the treatment of mediastinal lymph node tuberculous abscesses.

The mediastinal lymph node tuberculous abscesses (MLNTAs) are secondary to mediastinal tuberculous lymphadenitis. Surgical excision is often required when cold abscesses form. This study was aimed to examine video-assisted thoracoscopic surgery (VATS) for the treatment of MLNTA. Clinical data of 16 MLNTA patients who were treated in our hospital between December 1, 2013 and December 1, 2015 were retrospectively analyzed. All of the patients underwent the radical debridement and drainage of abscesses, and intrathoracic lesions were removed by VATS. They were also administered the intensified anti-tuberculosis treatment (ATT), and engaged in normal physical activity and follow-up for 3 to 6 months. The results showed that VATS was successfully attempted in all of the 16 MLNTA patients and they all had good recovery. Two patients developed complications after surgery, with one patient developing recurrent laryngeal nerve injury, and the other reporting poor wound healing. It was concluded that VATS is easy to perform, and safe, and has high rates of success and relatively few side-effects when used to treat MLNTA.