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.

Metastatic mediastinal hepatoid adenocarcinoma.

Hepatoid adenocarcinoma (HAC) of the mediastinum is a rare extrahepatic tumour that pathologically and morphologically resembles hepatocellular carcinoma. Extrahepatic HACs primarily occur in the stomach, ovaries, lung, gallbladder, pancreas and uterus. Patients with mediastinal HAC tend to be male smokers over forty years of age. Clinical symptoms of HAC are non-specific and varied in nature; therefore, diagnosis can be challenging and often delayed. Diagnostic investigations encompass haematological, radiological and histological assessment. Surgical resection is reserved for early-stage patients; however, since diagnosis may be delayed, most patients present with metastatic disease, for which the treatment of choice is platinum-based chemotherapy.

Posterior mediastinal leiomyosarcoma: Case report and literature review.

BACKGROUND: Posterior mediastinal leiomyosarcoma is an extremely rare malignant mesenchymal tumor with no special clinical symptoms, which is easily confused with some common tumors in the posterior mediastinum, affecting the accuracy of the first diagnosis by clinicians and delaying the treatment of patients. CASE SUMMARY: We report a 59-year-old woman with a space-occupying lesion in the posterior mediastinum. The patient was mistakenly diagnosed with lumbar muscle or vertebral body lesions due to chest and back pain and underwent conservative treatment, but her symptoms did not improve significantly and she gradually developed pain in both lower limbs. Chest computed tomography (CT) scan indicated the left lower lung paraspinal space and underwent standard single-aperture video-assisted thoracoscopic surgery (VATS), which was pathologically confirmed as posterior mediastinal leiomyosarcoma. CONCLUSION: Complete surgical resection of posterior mediastinal leiomyosarcoma can achieve good clinical results.

Adenocarcinoma originating in the anterior mediastinum diagnosed by endobronchial ultrasound-guided transbronchial cryobiopsy: a case report.

BACKGROUND: Endobronchial ultrasound-guided transbronchial cryobiopsy (EBUS-cryobiopsy) is advantageous for collecting larger specimens with minimal crushing; however, it has not been widely used for mediastinal tumors. CASE PRESENTATION: A 73-year-old woman with a history of left breast cancer underwent surgery followed by radiotherapy. Computed tomography showed a mass in the anterior mediastinum that was in extensive contact with the sternum on the ventral side and partly with the trachea on the dorsal side. Two computed tomography-guided needle biopsies (CTNBs) were performed on the mass; however, a definitive diagnosis was not made because of severe crush artifacts. Subsequently, we performed EBUS-cryobiopsy and safely obtained sufficient specimen volume with minimal crushing. The histopathological diagnosis was adenocarcinoma, with immunobiological features distinct from those of previous breast cancers. Her overall diagnosis was a rare tumor originating in the anterior mediastinum. CONCLUSIONS: EBUS-cryobiopsy can be safely performed in narrow areas surrounded by major blood vessels, and the obtained specimens may be superior to CTNBs for histopathological diagnosis.

A vocal cord palsy caused by the uterine cancer metastatic tumor in the mediastinum revealed in a patient with a thyroid lesion: a case report and review of the literature.

BACKGROUND: The main cause of vocal cord palsy (VCP) is idiopathic impairment of the recurrent laryngeal nerve (RLN). However, solid tumors along the pathway of the RLN can also impact the nerve's function. We presented a patient with a thyroid lesion and VCP due to a bulky metastatic mass (uterine cancer) on the aortic arch field in the mediastinum. The report aims to show the significance of comorbid tumors in thyroid pathology and the importance of additional diagnostic methods in avoiding unnecessary surgeries. A patient's lifetime and the outcome of the disease were also presented. CASE PRESENTATION: A 58-year-old Ukrainian woman with a hoarse voice, intermittent dry cough, and weakness was presented to an endocrine surgeon. Thyroid pathology included signs of hypothyroidism treated with Thyroxine 112.5 µg and a nodule in the left lobe. The lesion is located on the posterior aspect of the lobe, which could probably be a cause of RLN involvement. Fine needle aspiration biopsy (FNAB) was performed twice with Bethesda category 2 result. Fibrolaryngoscopy (FLS) revealed the median position of the left vocal cord. Idiopathic, laryngeal, and thyroid causes of the VCP were excluded. Additionally, the patient displayed her anamnesis of the endometrial clear cell carcinoma following hysterectomy, external beam radiation therapy, and chemotherapy. The mediastinal metastasis was revealed sixteen years later. A chest computed tomography (CT) with intravenous contrast was done. A bulky tumor was found right under the aortic arch. Subsequently, the voice complaints reduced significantly after 4 chemotherapy courses. Cancer progression had led to the appearance of lymph node metastases on the supraclavicular region. Following six months the 60-year-old patient had passed away. CONCLUSION: A history of the disease should always be kept in mind when assessing a patient's complaints. VCP in case of thyroid pathology and previous secondary malignancy may be caused by metastatic tumor anywhere along the RLN pathway. Such a rare case shows the importance of additional methods of examination which may avoid unnecessary thyroid surgeries.

Ectopic pancreas tissue in the posterior mediastinum.

The occurrence of ectopic pancreas in the mediastinum is rare. Herein, we report a 22-year-old female who presented with right shoulder pain, dysphagia, fever and headaches. Chest computer tomography revealed a mass in the posterior mediastinum with accompanying signs of acute mediastinitis. Needle biopsy and fine-needle aspiration revealed ectopic gastral tissue and ectopic pancreas tissue, respectively. Surgical resection was attempted due to recurring acute pancreatitis episodes. However, due to chronic-inflammatory adhesions of the mass to the tracheal wall, en-bloc resection was not possible without major tracheal resection. Since then, recurring pancreatitis episodes have been treated conservatively with antibiotics. We report this case due to its differing clinical and radiological findings in comparison to previous case reports, none of which pertained a case of ectopic pancreas tissue in the posterior mediastinum with recurring acute pancreatitis and mediastinitis.

Huge mediastinal ancient schwannoma causing acute respiratory failure: a case report.

Benign mediastinal tumor is usually asymptomatic and exhibits uncomplicated clinical course. Posterior mediastinal schwannoma is common, but a huge benign tumor causing acute respiratory failure due to mass effect is unusual. We present a patient who suffered from acute respiratory failure due to huge mediastinal mass effect and improved after en bloc surgical resection. A 56-year-old woman had no history of systemic disease, but experienced general discomfort and malaise for several months. She was referred to our emergency department after developing sudden respiratory failure. Intubation was performed with ventilator support and she was admitted to the intensive care unit. Chest radiograph and computed tomography showed a huge mass over the left pleural cavity causing left lung, heart, and mediastinal compression. After en bloc resection, she was weaned off the ventilator successfully and was discharged at 24 days after the operation. Postoperative outpatient follow-up showed no symptoms. Mediastinal ancient schwannoma is a rare posterior mediastinal benign tumor. However, mass effect might lead to lethal complications. En bloc resection is necessary for curative treatment.

A Nomogram to Predict Benign/Malignant Mediastinal Lymph Nodes Based on EBUS Sonographic Features.

Background: Endobronchial ultrasound (EBUS) sonographic features help identify benign/malignant lymph nodes while conducting transbronchial needle aspiration (TBNA). This study aims to identify risk factors for malignancy based on EBUS sonographic features and to estimate the risk of malignancy in lymph nodes by constructing a nomogram. Methods: 1082 lymph nodes from 625 patients were randomly enrolled in training (n = 760) and validation (n = 322) sets. The subgroup of EBUS-TBNA postoperative negative lymph nodes (n = 317) was randomly enrolled in a training (n = 224) set and a validation (n = 93) set. Logistic regression analysis was used to identify the EBUS features of malignant lymph nodes. A nomogram was formulated using the EBUS features in the training set and later validated in the validation set. Results: Multivariate analysis revealed that long-axis, short-axis, echogenicity, fusion, and central hilar structure (CHS) were the independent predictors of malignant lymph nodes. Based on these risk factors, a nomogram was constructed. Both the training and validation sets of 5 EBUS features nomogram showed good discrimination, with area under the curve values of 0.880 (sensitivity = 0.829 and specificity = 0.807) and 0.905 (sensitivity = 0.819 and specificity = 0.857). Subgroup multivariate analysis revealed that long-axis, echogenicity, and CHS were the independent predictors of malignancy outcomes of EBUS-TBNA postoperative negative lymph nodes. Based on these risk factors, a nomogram was constructed. Both the training and validation sets of 3 EBUS features nomogram showed good discrimination, with the area under the curve values of 0.890 (sensitivity = 0.882 and specificity = 0.786) and 0.834 (sensitivity = 0.930 and specificity = 0.636). Conclusions: Our novel scoring system based on two nomograms can be utilized to predict malignant lymph nodes.

Bilateral Hilar and Mediastinal Lymphadenopathy as an Initial Manifestation of Amyloidosis.

A 75-year-old male visited our hospital with bilateral hilar lymph node swelling detected on chest radiography during an annual medical checkup. Chest computed tomography revealed swelling of multiple hilar mediastinal lymph nodes. Histopathological and immunohistochemical examinations of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) specimens from the hilar lymph nodes revealed amyloid deposition. Bilateral hilar and mediastinal lymphadenopathies can be the first manifestations of amyloidosis diagnosed using EBUS-TBNA.

Right upper lobectomy with mediastinal dissection under uniportal video-assisted thoracoscopic surgery for lung cancer in a patient with a right-sided aortic arch: a case report.

BACKGROUND: A right-sided aortic arch is a rare congenital vascular structure variation. Right lobectomy is not commonly performed on patients with such a condition. Further, there are no reports on lobectomy under uniportal video-assisted thoracoscopic surgery (VATS) in this patient group. CASE PRESENTATION: A 67-year-old man with a right-sided aortic arch and Kommerell diverticulum underwent right upper lobectomy with mediastinal lymph node dissection under uniportal VATS for primary lung cancer. Due to the right descending aorta, which narrows the space of the dorsal hilum, handling of the stapler for stapling the right upper lobe bronchus from the uniport in the 6th intercostal space at the medial axillary line can be challenging. This issue was resolved by manipulating the staple over the azygos vein toward the inferior margin of the aortic arch. Via mediastinal lymphadenectomy, we found that the right recurrent laryngeal nerve branched from the right vagus nerve and hooked around the right-sided aortic arch. CONCLUSIONS: Right lobectomy with mediastinal lymph node dissection under uniportal VATS can be performed for lung cancer in patients with a right-sided aortic arch.

Resection and a rare type of reconstruction of the superior vena cava with the left brachiocephalic vein.

Resection and reconstruction of the superior vena cava (SVC) are required in a selected group of patients with anterior mediastinal tumors and lung neoplasms. We present the case of a 63-year-old woman who underwent invasive type B2 thymoma resection and a rare type of reconstruction of the superior vena cava using a patch of the left brachiocephalic vein (LBV). The various types of reconstruction of the superior vena cava are discussed.

Accuracy of endobronchial ultrasound-guided transbronchial needle aspiration for staging of non-small cell lung cancer.

BACKGROUND: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is routinely performed to confirm a lung cancer diagnosis and/or to clinically stage disease. EBUS-TBNA findings may be used to determine whether patients can be offered potentially curative surgery. In this study, we evaluated the reporting in our service of EBUS-TBNA cytology for early-stage (operable) non-small cell lung cancer (NSCLC), focusing on diagnostic accuracy and analyzing cases with discordant cytologic and post-surgical histopathologic conclusions. METHODS: Cytology slides and cytopathology reports of 120 NSCLC patients who had undergone EBUS-TBNA and lobectomy in our hospital system between 2015 and 2021 were retrospectively reviewed. RESULTS: Of 290 lymph nodes (110 cases) able to be reviewed, interpretation of 48 lymph nodes was discordant with the original cytopathology report. This included 31 lymph nodes originally reported as adequate, which were found to be non-diagnostic on review. The diagnostic accuracy (benign/malignant) of lymph nodes that were sampled at EBUS-TBNA and excised at surgery was 89%. Specific examination of cases where EBUS-TBNA cytology did not reflect post-surgical findings illustrated important features and limitations of the procedure. These included potential misclassification of lymph node stations, the presence of multiple, variably involved nodes at lymph node stations, and the failure to detect small volume disease. CONCLUSIONS: Continuous evaluation of EBUS-TBNA performance identifies technical limitations and areas of improvement for cytopathology reporting. This is increasingly important in an era where lung cancer screening is expected to increase diagnosis of early-stage disease and with the advent of novel treatments, including non-surgical management options.

Early experience of endobronchial ultrasound-guided transbronchial nodal cryobiopsy: a case series from Sabah, Malaysia.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is an established minimally invasive method for the diagnosis of benign and malignant conditions. Continuous efforts are underway to improve the material adequacy of EBUS-TBNA, including the introduction of a new technique called EBUS-guided transbronchial nodal cryobiopsy (EBUS-TBNC). This method allows for the retrieval of larger and well-preserved histologic samples from the mediastinum. We present a case series of four patients who underwent combined EBUS-TBNA and EBUS-TBNC procedures in our centre. All procedures were performed under general anaesthesia using a convex probe EBUS scope (Pentax EB-1970UK). Two patients were diagnosed with malignancy and two with benign disorders (silicosis and tuberculosis). In the malignant cases, both EBUS-TBNA/cell block and cryobiopsy provided a diagnosis but cryobiopsy yielded more material for ancillary tests in one patient. However, in the benign cases, there was discordance between EBUS-TBNA/cell block and cryobiopsy. Only cryobiopsy detected granuloma in the patient with TB (tuberculosis), and in the patient with silicosis, TBNC provided a better overall histological evaluation, leading to a definitive diagnosis. No complications were observed. This case series supports the potential diagnostic value of combining EBUS-TBNA and EBUS-TBNC, particularly in benign mediastinal lesions (granulomatous diseases), and in cases requiring additional molecular tests in cancer diagnosis.

Exploring a new lymph node biopsy technique: case series from Sabah, MalaysiaWe explored a new technique for lung diagnosis called EBUS-guided transbronchial nodal cryobiopsy (EBUS-TBNC). This method helps get larger and well-preserved tissue samples from the chest area. In our study, we used this technique on four patients alongside the established method called EBUS-guided transbronchial needle aspiration (EBUS-TBNA). All procedures were done with the patient under general anesthesia using a specific type of scope. Two patients were found to have cancer, and two had non-cancerous conditions (silicosis and tuberculosis). In the cancer cases, both methods provided a diagnosis, but the cryobiopsy gave more material for additional tests in one patient. However, in non-cancer cases, there were differences between the two methods. Only the cryobiopsy detected granulomas in the tuberculosis patient, and in the silicosis patient, cryobiopsy gave a better overall tissue evaluation, leading to a clear diagnosis. No complications were seen in any of the cases. This study suggests that combining EBUS-TBNA and EBUS-TBNC can be valuable, especially for non-cancerous chest lesions (like granulomatous diseases) and when extra tests are needed for cancer diagnosis.

Survival difference among adult and pediatric mediastinal yolk sac tumors cases: A meta-analysis of case reports.

BACKGROUND: Mediastinal Yolk sac tumors (YST) are rare and highly malignant extragonadal germ cell tumors with rapid growth and early metastases. We sought to conduct a meta-analysis of published case reports/case series to compare differences in survival, demographics, and treatment modalities between adult and pediatric patients with YST. METHODS: Ovid Embase, Cochrane, and Ovid Medline databases were searched for primary mediastinal pure YST cases. The primary outcome was overall survival (OS). Log-rank and Cox regression were used. This study is registered on PROSPERO (CRD42022367586). RESULTS: Among 846 studies, 87 met our inclusion criteria including 130 patients (Adults: 90 and Pediatrics: 40). About 41.5% of the patients were from the United States. The median age was 23.0 (Q1-Q3: 17.0-30.0), 88.5% were males, and (32.3%) were Asian. Stage II represented almost 40%. AFP was elevated in 96.9%. Respiratory distress was the presenting symptom in 65.4%. Chemotherapy, radiotherapy, and surgery were utilized in 84.6, 23.1, and 64.7% respectively. Median OS was 24 months (Adults: 23 months, Pediatrics: 25 months, P = 0.89). 3- and 5-year OS were 34.4% and 22.9% in adults and 41.5% and 41.5% in pediatrics, respectively. On multivariate analysis, anterior location of tumors, receipt of chemotherapy, and undergoing surgery were associated with better OS. CONCLUSION: Primary mediastinal YSTs are rare, but lethal neoplasms. Our meta-analysis showed that mediastinal YSTs mimic other non-seminomatous mediastinal GCTs in terms of clinical characteristics and available treatment options. Early diagnosis, neoadjuvant chemotherapy, and surgical resection are the key points for effective management and improved outcomes.

Quantitative evaluation of endobronchial ultrasound elastography in the diagnosis of benign and malignant mediastinal and hilar lymph nodes.

OBJECTIVE: To compare the diagnostic value of different quantitative methods of endobronchial ultrasound elastography in benign and malignant mediastinal and hilar lymph nodes. METHODS: This retrospective study included patients who underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for mediastinal and hilar lymph node enlargement in our hospital between January 2019 and August 2022. We compared different quantitative elastography parameters [red area ratio (RAR, lymph node red area/lymph node area), green area ratio (GAR, lymph node green area/lymph node area), blue area ratio (SAR, lymph node blue area/lymph node area), mixed area ratio (MAR, lymph node green area/lymph node area), blue-green lymph node area/lymph node area), strain rate ratio (SR), strain rate in the target lymph node (LPA), ratio of blue area to total lymph node area outside the center of the target lymph node (PAR), and average grey value (MGV)], in order to find the best quantitative evaluation method. RESULTS: A total of 244 patients (346 lymph nodes) were included in this study. All quantitative elastography parameters were statistically significant for the differentiation of benign and malignant lesions except the average grey value of the target lymph nodes. The area under the receiver operating characteristic curve of SAR was 0.872 (95% confidence interval: 0.83-0.91), the cutoff value was 0.409, and the sensitivity, specificity, positive and negative predictive values were 85.4%, 78.0%, 80.4%, and 83.4%, respectively. CONCLUSION: Compared with other types of quantitative analysis, SAR has a higher predictive significance for benign and malignant lymph nodes.

Transbronchial lymph node forceps biopsy as a novel tool in diagnosis of mediastinal lymphadenopathy: a pilot study.

BACKGROUND: Differential diagnosis of mediastinal lymphadenopathy is an issue of debate. Lymph nodes may be enlarged due to a variety of inflammatory, infectious, or malignant reasons. Therefore, obtaining samples from the affected nodes is crucial for the diagnosis. Usually, these patients are subjected to TBNA (EBUS or conventional) or mediastinoscopy if TBNA is not conclusive. This study evaluated the safety and feasibility of this new technique of transbronchial forceps biopsy for the diagnosis of mediastinal lymphadenopathy. METHODS: The study included 18 patients with confirmed mediastinal lymphadenopathy who were admitted in Chest Department, Cairo University in the period from December 2019 to December 2020. All patients were subjected to flexible bronchoscopy with conventional transbronchial needle aspiration (C-TBNA) and transbronchial forceps biopsy (LN-TBFB) from the enlarged mediastinal lymph node in the same procedure. RESULTS: we found the technique of LN-TBFB safe with no serious complications. We were able to reach a diagnosis in 7/7 (100%) cases of sarcoidosis, 6/7 (85.7%) cases of malignant lymph nodes. We had three cases where the histopathology showed hyperactive follicular hyperplasia, and a single case of tuberculous lymphadenitis. C-TBNA was diagnostic in 71.4% of sarcoidosis cases, 42.9% of malignant cases, but failed to diagnose the one patient with tuberculous lymphadenitis. CONCLUSION: Lymph node transbronchial forceps biopsy (LN-TBFB) was found to be safe and effective in the diagnosis of mediastinal lymphadenopathy. We strongly advocate the use of this minimally invasive technique for diagnosing pathologically enlarged mediastinal lymph nodes, as a last step before mediastinoscopy.

Comparison of the specimen quality of endobronchial ultrasound-guided intranodal forceps biopsy using standard-sized forceps versus mini forceps for lung cancer: A prospective study.

BACKGROUND AND OBJECTIVE: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a diagnostic procedure with adequate performance; however, its ability to provide specimens of sufficient quality and quantity for treatment decision-making in advanced-stage lung cancer may be limited, primarily due to blood contamination. The use of a 0.96-mm miniforceps biopsy (MFB) permits true histological sampling, but the resulting small specimens are unsuitable for the intended applications. Therefore, we introduced a 1.9-mm standard-sized forceps biopsy (SFB) and compared its utility to that of MFB. METHODS: We prospectively enrolled patients from three institutions who presented with hilar/mediastinal lymphadenopathy and suspected advanced-stage lung cancer, or those who were already diagnosed but required additional tissue specimens for biomarker analysis. Each patient underwent MFB followed by SFB three or four times through the tract created by TBNA using a 22-gauge needle on the same lymph node (LN). Two pathologists assessed the quality and size of each specimen using a virtual slide system, and diagnostic performance was compared between the MFB and SFB groups. RESULTS: Among the 60 enrolled patients, 70.0% were diagnosed with adenocarcinoma. The most frequently targeted sites were the lower paratracheal LNs, followed by the interlobar LNs. The diagnostic yields of TBNA, MFB and SFB were 91.7%, 93.3% and 96.7%, respectively. The sampling rate of high-quality specimens was significantly higher in the SFB group. Moreover, the mean specimen size for SFB was three times larger than for MFB. CONCLUSION: SFB is useful for obtaining sufficient qualitative and quantitative specimens.