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Desmoid tumours are rare, locally aggressive neoplasms exhibiting high tendency for recurrence, even after complete resection. Only 1 in 5 of them originates from the chest wall, usually measuring less than 10 cm at diagnosis. Herein, we report the case of a woman presenting with symptoms of gradual lung compression by a giant desmoid tumour occupying the entire hemithorax. She underwent complete surgical resection of the tumour and chest wall reconstruction. She had disease recurrence 15 months later and currently remains under regular follow-up. The management of intrathoracic desmoid tumours is challenging because they are usually not diagnosed until they become large enough to cause compression symptoms. While medical management is the primary modality of treatment, surgery could be considered in selected cases where significant symptoms arise, and the functional status is impaired secondary to the tumour. Adjuvant radiotherapy to minimise the risk of local recurrence should also be considered.

Cystic fibrohistiocytic tumour of the lung is a very rare pathological entity that occurs either as a primary pulmonary neoplasm or as a metastasis from skin lesions called cellular fibrous histiocytomas. Herein, we present the case of a 19-year old man with a history of recurrent pneumothoraces who was managed surgically and was eventually diagnosed with cystic fibrohistiocytic tumour of the lung. Clinicians should include this disease in the differential diagnosis of pulmonary cystic lesions and be aware of its association with cellular fibrous histiocytoma. Reporting of more cases is warranted to further elucidate the natural course of the disease and optimise its management.

Summary: Although thousands of solid tumors have been sequenced to date, a fundamental under-sampling bias is inherent in current methodologies. This is caused by a tissue sample input of fixed dimensions (e.g., 6 mm biopsy), which becomes grossly under-powered as tumor volume scales. Here, we demonstrate representative sequencing (Rep-Seq) as a new method to achieve unbiased tumor tissue sampling. Rep-Seq uses fixed residual tumor material, which is homogenized and subjected to next-generation sequencing. Analysis of intratumor tumor mutation burden (TMB) variability shows a high level of misclassification using current single-biopsy methods, with 20% of lung and 52% of bladder tumors having at least one biopsy with high TMB but low clonal TMB overall. Misclassification rates by contrast are reduced to 2% (lung) and 4% (bladder) when a more representative sampling methodology is used. Rep-Seq offers an improved sampling protocol for tumor profiling, with significant potential for improved clinical utility and more accurate deconvolution of clonal structure.

Background: Epithelioid haemangioendothelioma (EHE) is a rare low-grade vascular neoplasm that can arise in the lung, liver, soft tissues or, less commonly, bone. Due to its low prevalence of less than one in a million and its non-specific clinical features, EHE is often misdiagnosed and managed inappropriately. Here we discuss the case of a 58 year-old gentleman with mediastinal EHE and review existing literature on pulmonary EHE (PEH). Case history: A 58 year-old gentleman presented to our outpatient Clinic with chest discomfort and palpitations. A whole-body FDG-CT-PET showed an FDG-avid single 6.3cm nodule in the superior anterior mediastinum which was fully excised by robotic approach. Histology showed a nodular structure with clusters of epithelioid and spindled cells with a low proliferative index and mitotic count, suspended in a sclerotic stroma. Immunohistochemistry staining was positive for CD3 and CD34, confirming endothelial lineage, and SMA, identifying smooth muscle clusters. Discussion: PEH typically presents in young Caucasian women, either incidentally as multiple small pulmonary nodules on CT or with respiratory symptoms that include cough, dyspnoea, chest pain and occasionally pleural effusions. Aetiology and prognosis remain unclear, although indicators of poor prognosis include the presence of respiratory symptoms, male gender, older age and multi-organ disease. Diagnosis is difficult and PEH is often misidentified as chronic granulomatous disease, amyloidosis or other malignancy of the lung. Histological features suggestive of PEH include nodules of hypocellular sclerotic stroma containing spindle-shaped tumour cells with abundant eosinophilic cytoplasm, vacuoles containing erythrocytes and low mitotic counts. CD31, CD34 and Fli-1 positive immunohistochemistry is strongly indicative of epithelioid lineage. There is no standard treatment for PEH but curative resection is the preferred treatment option where possible, with chemotherapy being used as adjuvant treatment or in widespread inoperable disease. Conclusion: This case report outlines the clinicopathological features that are characteristic of EHE with the hope of facilitating correct and early diagnosis in the future.

Pulmonary alveolar microlithiasis (PAM) is an uncommon genetic disorder associated with alveolar cell injury. This injury is caused in most cases by inactivating mutations in SLC34A2 gene, which is responsible for the production of a sodium-dependent phosphate co-transporter. The dysfunction or deficiency of this transporter leads to the aggregation of local phosphate intra-alveolarly and formation of microliths. Most of the patients are asymptomatic at the time of the diagnosis but as the disease progress it leads to fatal respiratory or cardiac failure. We describe a case of a 63-year-old man referred to our department for a surgical lung biopsy. He has been symptomatic for one year with progressive shortness of breath and deteriorating exercise tolerance. The imaging was suggestive of extensive interstitial bilateral lung disease. Histological findings after the lung biopsy by video-assisted thoracic surgery (VATS) established the diagnosis of pulmonary alveolar microlithiasis. His sister suffered from the same disease and passed away at the age of 54. It is remarkably rare for PAM to have such a late onset with a previous normal X-ray and only a few cases have been reported worldwide.

Schwannoma is a benign encapsulated tumor of the nerve sheath. Amongst other sites, it develops in the posterior mediastinum in the costovertebral sulcus. We herein present a case of a 68-year-old woman with an incidental finding of a subcarinal mass. Radiological and histopathological studies were suggestive of schwannoma. Therefore, the mass was completely resected through a right thoracotomy, and a definite histopathological diagnosis was established. Although the subcarinal area is a rare site for this tumor to appear, the schwannoma should be considered as part of the differential diagnosis of lesions in the subcarinal region. Treatment of choice is the nerve-sparing surgical excision of the mass with excellent prognosis. A review of the literature on this topic was performed.