Search

See relatedarticle [ABSTRACT FROM AUTHOR]

We report a diagnostically challenging case of a SMARCA4‐deficient undifferentiated tumour to emphasize its potential to mimic other malignant tumours on histology, especially in small biopsies and where rhabdoid morphology is lacking. A 48‐year‐old man, who was known for chronic obstructive pulmonary disease and polysubstance use, presented with dyspnoea and an anterior mediastinal mass that had grown rapidly over a seven‐month period. The rapid growth and location in the anterior mediastinum raised clinical suspicion for lymphoma or a germ cell tumour. Microscopic examination of a transthoracic, ultrasound‐guided, core needle biopsy revealed relatively uniform, malignant epithelioid cells with clear cytoplasm, but lacking any rhabdoid features. Tumour necrosis was prominent. The immunohistochemistry panel was negative for lymphoma markers, but positive for SALL4 (a marker typically associated with germ cell tumours), CD34, EMA, and HepPar1, while expression of SMARCA4 and claudin‐4 was entirely lost. Only focal cytokeratin expression was demonstrated. SMARCB1 (INI1) expression was retained. The diagnosis of SMARCA4‐DUT was made based on these findings. Unfortunately, the tumour was already at an advanced stage at diagnosis (stage IVA) and the patient had a poor performance status. He was treated with palliative radiotherapy with no significant improvement in performance status and passed away 3 months after diagnosis. The case highlights the importance of considering SMARCA4‐DUT in the differential diagnosis of an undifferentiated, rapidly growing thoracic tumour and the potential for misdiagnosis on a small tissue sample, particularly as rhabdoid morphology may be absent. [ABSTRACT FROM AUTHOR]

A pleural exudate that remains undiagnosed after a combined clinical assessment, thoracentesis, and imaging requires a pleural biopsy for a definitive diagnosis. Thoracoscopy is often the first method of choice to obtain tissue as it offers greater sensitivity and there is a perception of less risk. However, with imaging guidance, closed pleural biopsy is a safe, affordable, and effective alternative to diagnose all forms of pleural disease. Ultrasound (US) has several benefits when compared with computed tomography for image-guided biopsy, as it is widely available, can be performed bedside, and does not expose the patient to radiation. If performed in optimal conditions, a transthoracic USguided closed pleural biopsy can yield results comparable to those of thoracoscopy and a marked reduction in the complication rate versus blind biopsy. Abrams and Tru-Cut needles are the most widely used for a closed pleural biopsy. Either may be used with real-time image guidance or with a free-hand image-assisted technique to harvest up to 6 separate tissue samples. The needle choice will depend on the morphology of the lesion observed on imaging. The Tru-Cut is generally preferred for mass lesions of the pleura or pleura that is >20 mm in thickness, and the Abrams for pleural thickening of <20 mm or radiologically normal pleura. A transthoracic US may be used to detect, rule out, and prevent complications, such as bleeding, solid organ injury, or pneumothorax. The ability to perform thoracic US is a necessary skill in current respiratory practice, and US-guided closed pleural biopsy has a critical role in diagnosis. [ABSTRACT FROM AUTHOR]

We present a case of a 34-year-old male who presented with syncope secondary to a large adenoid cystic carcinoma (ACC) of the distal trachea. A computed tomography and flexible bronchoscopy showed almost complete occlusion of the distal trachea. Resection with curative intent was performed, but resection margins were unfortunately not clear. The patient was subsequently offered adjuvant radiotherapy. Tracheal tumours comprise a small proportion of respiratory tract neoplasm, accounting for only about 2% of airway malignancies. Squamous cell carcinoma is the most common tracheal tumour, followed by ACC. Symptoms are usually attributable to the intraluminal component of the tumour causing an obstruction of the airway, resulting in stridor, dyspnoea, wheezing, haemoptysis, and cough. Syncope as a presenting symptom is exceedingly rare. [ABSTRACT FROM AUTHOR]

A 30-year-old female with no significant past medical history was referred to our facility with sudden onset of shortness of breath. She had a low clinical probability for pulmonary thromboembolism and a computed tomography angiogram showed enlarged pulmonary arteries but no in situ thrombi. She developed recurrent episodes of hypotension and hypoxia, and was transferred to the intensive care unit where she died despite active resuscitation. An autopsy revealed extensive lymphatic and pulmonary vascular tumour emboli as the immediate cause of death. Pulmonary tumour embolism is a very rare cause of death, but can occur in patients who have an occult neoplasm. [ABSTRACT FROM AUTHOR]

Competing Interests: Conflicts of Interest: RN van Zyl-Smit has received honoraria for academic talks and advisory boards from Astra Zeneca, GSK, ASPEN, Novartis, Cipla, MSD, Roche, Pfizer, Adcock Ingram. MS Abdool-Gaffar has received honoraria for talks from Novartis, Astra Zeneca, GSK/Aspen and Pfizer. C Smith has received honoraria for academic talks and advisory boards from Astra Zeneca, GSK/Aspen, Novartis, Cipla. CF Koegelenberg has received honoraria for academic talks and advisory boards from Astra Zeneca. K Dheda has received honoraria for academic symposia, membership of advisory boards, and/ or grant support from Astra Zeneca, GSK, Novartis, Adcock Ingram, Nycomed Takeda, Cipla, and MSD. B Allwood has received honoraria for academic talks from Novartis. A Goolam-Mahomed has received honoraria for Academic talks, advisory boards and congress attendance from Astra-Zeneca and GSK-Aspen. ML Wong has received honoraria for academic talks from AstraZeneca, Cipla, Novartis, Boehringer-Ingelheim, MSD. UG Lalloo has received honoraria for academic symposia, membership of advisory boards for Astra-Zeneca, Aspen GSK, CIPLA, Novartis, Adcock Ingram, Nycomed Takeda and MSD. G Calligaro has received honoraria for academic talks from Astra-Zeneca, Novartis.