Diagnosis and Management of Giant Esophageal Fibrovascular Polyp With Hypopharyngeal Pedicle

Background: Fibrovascular polyps (FVPs) with hypopharyngeal pedicles (hFVPs) are the rare intraluminal benign tumours of the upper aerodigestive tract, and their accurate diagnosis and optimal management are challenging. Purpose: The present retrospective study attempted to explore the optimal diagnosis and treatment of hFVPs. Research Design: The clinical records of 2 patients with giant, irregularly shaped hFVPs, who underwent several failed surgical procedures after inaccurate diagnosis, were reviewed. Finally, the patients were correctly diagnosed and successfully treated at Capital Medical University Beijing Friendship Hospital in different years, 2018 and 2020. Results: Case 1 was of a 43-year-old woman with 2 months of progressive dysphagia. Gastroenterologists overlooked the origin of her FVP, and decided to sever its narrowest point in the oesophagus through endoscopy. However, upon unsuccessful removal of the mass, a gastrotomy procedure was performed to extract the mass 7 days later. Symptoms recurred 3 months after the treatment, and a fibreoptic laryngoscopy confirmed hFVP in the patient at our department. A transcervical approach was used to sever the hypopharyngeal pedicle, achieve haemostasis and remove the oesophageal tumour. No recurrence was detected during the 2-year follow-up period after the treatment. Case 2 was of a 32-year-old man with dysphagia who had previously undergone transthoracic and transcervical oesophagotomy procedures within a gap of 3 months for the removal of FVP causing dysphagia. The hypopharyngeal pedicle was not diagnosed in the patient. The symptoms of dysphagia recurred 4 years after the treatment, and a fibreoptic laryngoscope confirmed hFVP at our department. The tumour was removed successfully through the transcervical approach. No recurrence was detected during the 6-months follow-up after surgery. Conclusion: In conclusion, the transcervical approach is suitable for achieving haemostasis and removing giant, irregularly shaped hFVPs.

Midthoracic Pain, Sentinel Arterial Haemorrhage and Exsanguination after a Symptom-Free Interval (Chiari's Triad) is Diagnostic of Arterio-Oesophageal Fistula: A Life-Threatening Cause of Gastrointestinal Bleeding

Introduction: Arterio-oesophageal fistulae are a very uncommon cause of severe gastrointestinal bleeding, and mostly result from an aberrant right subclavian artery and mediastinal surgery or prolonged endotracheal/nasogastric intubation. Material and Methods: We present the case of a patient with an oesophageal adenocarcinoma and haematemesis due to a subclavian arterio-oesophageal fistula after mediastinal radiotherapy. Conclusion: We discuss the rare, life-threatening condition of acute erosion of the left subclavian artery caused by an oesophageal tumour and presenting with Chiari's triad.

Complete laparoscopic-transhiatal removal of duplex benign oesophageal tumour: case report and review of literature

Background Leiomyoma is the most common benign oesophageal tumour. Half of all leiomyoma patients have oesophagus-associated complaints, such as dysphagia and epigastric pain, and the other 50% are asymptomatic with a diagnosis made on incidental discovery. Endoscopic ultrasonography is essential for an accurate preoperative workup and can enable guided-tissue acquisition for immunohistochemistry in certain cases. Smaller tumours are amenable to traditional and novel endoscopic removal in specialized centres, but some complex cases require surgical enucleation with a minimally invasive approach. Case presentation An asymptomatic 60-year-old woman was accidentally diagnosed with a bifocal oesophageal mass, which was discovered by chest computed tomography. We report a rare case of a duplicated lower-third oesophageal leiomyoma, which was completely removed via the laparoscopic transhiatal approach. The patient has recovered successfully from the surgery. She has been followed up for six months with a normal oesophagram, adequate oesophageal function and no complaints observed. Pathological examination confirmed the diagnosis of leiomyoma in both lesions. Conclusions To the best of our knowledge, this is the first reported case of duplex oesophageal leiomyomas removed laparoscopically. Using the minimally invasive abdominal technique, the lower oesophagus can be mobilised to the mediastinum without pleura injury and offers a good alternative to the thoracoscopic approach in patients with possible intrathoracic difficulties. At experienced centres, laparoscopic transhiatal enucleation of lower oesophageal leiomyomas and other benign tumours with a combination of intraoperative oesophagoscopy is a safe, fast and effective operation.

The Mutational Concordance of Fixed Formalin Paraffin Embedded and Fresh Frozen Gastro-Oesophageal Tumours Using Whole Exome Sequencing

1. Background: The application of massively parallel sequencing has led to the identification of aberrant druggable pathways and somatic mutations within therapeutically relevant genes in gastro-oesophageal cancer. Given the widespread use of formalin-fixed paraffin-embedded (FFPE) samples in the study of this disease, it would be beneficial, especially for the purposes of biomarker evaluation, to assess the concordance between comprehensive exome-wide sequencing data from archival FFPE samples originating from a prospective clinical study and those derived from fresh-frozen material. 2. Methods: We analysed whole-exome sequencing data to define the mutational concordance of 16 matched fresh-frozen and FFPE gastro-oesophageal tumours (N = 32) from a prospective clinical study. We assessed DNA integrity prior to sequencing and then identified coding mutations in genes that have previously been implicated in other cancers. In addition, we calculated the mutant-allele heterogeneity (MATH) for these samples. 3. Results: Although there was increased degradation of DNA in FFPE samples compared with frozen samples, sequencing data from only two FFPE samples failed to reach an adequate mapping quality threshold. Using a filtering threshold of mutant read counts of at least ten and a minimum of 5% variant allele frequency (VAF) we found that there was a high median mutational concordance of 97% (range 80.1–98.68%) between fresh-frozen and FFPE gastro-oesophageal tumour-derived exomes. However, the majority of FFPE tumours had higher mutant-allele heterogeneity (MATH) scores when compared with corresponding frozen tumours (p < 0.001), suggesting that FFPE-based exome sequencing is likely to over-represent tumour heterogeneity in FFPE samples compared to fresh-frozen samples. Furthermore, we identified coding mutations in 120 cancer-related genes, including those associated with chromatin remodelling and Wnt/β-catenin and Receptor Tyrosine Kinase signalling. 4. Conclusions: These data suggest that comprehensive genomic data can be generated from exome sequencing of selected DNA samples extracted from archival FFPE gastro-oesophageal tumour tissues within the context of prospective clinical trials.

A rare oesophageal inflammatory myofibroblastic tumour treated by endoscopy

An inflammatory myofibroblastic tumour is a mesenchymal neoplasm that mostly involves the lung and rarely involves the oesophagus. Surgery has been most commonly used for the treatment of oesophageal inflammatory myofibroblastic tumours but there are no definite guidelines for their diagnosis and treatment. We describe the case of a 60-year-old woman presenting with dysphagia and poor appetite who was diagnosed with a submucosal oesophageal tumour by contrast enhanced computed tomography and ultrasonography endoscopy. She was treated successfully by endoscopic submucosal dissection with no complications. The final diagnosis was confirmed by pathological examination.

Mapping genetic vulnerabilities reveals BTK as a novel therapeutic target in oesophageal cancer

ObjectiveOesophageal cancer is the seventh most common cause of cancer-related death worldwide. Disease relapse is frequent and treatment options are limited.DesignTo identify new biomarker-defined therapeutic approaches for patients with oesophageal cancer, we integrated the genomic profiles of 17 oesophageal tumour-derived cell lines with drug sensitivity data from small molecule inhibitor profiling, identifying drug sensitivity effects associated with cancer driver gene alterations. We also interrogated recently described RNA interference screen data for these tumour cell lines to identify candidate genetic dependencies or vulnerabilities that could be exploited as therapeutic targets.ResultsBy integrating the genomic features of oesophageal tumour cell lines with siRNA and drug screening data, we identified a series of candidate targets in oesophageal cancer, including a sensitivity to inhibition of the kinase BTK in MYC amplified oesophageal tumour cell lines. We found that this genetic dependency could be elicited with the clinical BTK/ERBB2 kinase inhibitor, ibrutinib. In both MYC and ERBB2 amplified tumour cells, ibrutinib downregulated ERK-mediated signal transduction, cMYC Ser-62 phosphorylation and levels of MYC protein, and elicited G1 cell cycle arrest and apoptosis, suggesting that this drug could be used to treat biomarker-selected groups of patients with oesophageal cancer.ConclusionsBTK represents a novel candidate therapeutic target in oesophageal cancer that can be targeted with ibrutinib. On the basis of this work, a proof-of-concept phase II clinical trial evaluating the efficacy of ibrutinib in patients with MYC and/or ERBB2 amplified advanced oesophageal cancer is currently underway (NCT02884453).Trial registration numberNCT02884453; Pre-results