A hamartoma presenting as an intramural upper oesophageal tumour

Abstract

Oesophageal hamartomas are extremely rare conditions especially in upper oesophagus. We report on a 20-year-old woman who presented with dysphagia and was diagnosed with a retrosternal 4.9 cm × 9.0 cm heterogenic tumour located in her upper oesophagus. Preoperative examinations included computed tomography of the chest, bronchoscopy and esophagoscopy, and no signs of malignancy were noted. She underwent surgical resection of the mass and the final histopathological diagnosis was osteochondromatous hamartoma of the upper oesophagus. No acute or long-term complications or tumour recurrence were noted during a 6-year follow-up. Operative treatment was scheduled, but due to patientrelated factors, the operation was postponed to September 2010. Operative treatment consisted of a neck incision to approach the oesophagus, which was then encircled and muscular wall was opened vertically keeping the mucosa intact. The tumour was identified between muscle and mucosal layer and a pericapsular enucleation was performed (Figure 2). The patient was discharged on the second postoperative day without any primary complications. On a follow-up visit one month later the patient complained hoarseness and a consultation was appointed at the Department of Otolaryngology-Head and Neck Surgery. Left vocal cord paralysis was noted and scheduled for follow-up. During the first 1-year follow-up, her hoarseness subsided without any intervention and the patient has remained also otherwise symptomless. Pathologic findingsIn light microscopy the surgical specimen composed of mature fat tissue, fibrous tissue, cartilage and benign glandular structures (Figure 3). DiscussionWe report on a rare finding of a mediastinal mass that was diagnosed as a large intramural hamartomatous tumour of the proximal oesophagus. The final diagnosis was only evident macroscopically perioperatively and histopathologically after surgical resection of the entire tumour mass. This report adds to the differential diagnosis of slowly growing upper mediastinal tumours. More importantly it demonstrates the importance of preoperative assessment and the value of preparing the patient even for major resections and reconstructions even though the final surgical outcome based on a rare histological alternative may lead to a totally different outcome.Benign tumours of the oesophagus are rare accounting up to 0.5% or less of all oesophageal tumours at autopsy (11,12). Other types of tumours rise from distal to middle oesophagus, and only fibrovascular polyps tend to dominate in upper oesophagus (12). The most common tumour type is leiomyoma, while other benign tumours are rare, such as neurofibromas (schwannoma), granular cell tumours, hemangiomas, lipomas, and other types of polyps like hamartoma (13). Previous reports have described intraluminal polypomatous descriptions of oesophageal hamartoma or lower intramural oesophageal hamartoma (2,3,5,14) or lower intramural oesophageal hamartoma (4). Hamartoma in cervical oesophagus of adults is extremely rare and only fi...

Histopathological landscape of rare oesophageal neoplasms

“…Background: Hamartomas are defined as tumour-like malformations composed of a mixture of differentiated normal tissues physiologically involved in the structure of the organ in which they develop. To date, fewer than ten reports describe an oesophageal location of these tumours[ 9 ].…”

“…Clinical features and diagnostic approach: Small oesophageal hamartomas (OHs) can be asymptomatic or can cause progressive dysphagia, often accompanied by weight loss due to diminished caloric intake. OHs are usually located in the submucosa; thus, a combination of endoscopic ultrasound, barium oesophagogram and contrast-enhanced computed tomography (CT) with classic EGDS and biopsy sampling[ 8 ] can be very helpful in patient work-up[ 9 ].…”

“…Pathological features: OHs are typically composed of a mixture of fat, fibrous, and mature cartilaginous tissues associated with benign glandular structures[ 9 ].…”

Nonpolypous Hamartomas of the Gastrointestinal Tract: An Updated Review on Classification, Denominations, and Clinical Management

“…The term derives from the Greek word “hamartia” meaning error or failure. Albrecht defined these “tumor-like malformations” in 1904 as being composed by normal cells and tissue components, like the organ in which they occur, which show a disorganized architecture and a predominance of one component [ 2 , 3 ]. As the diagnosis is frequently difficult, improper nomenclature and misdiagnoses can prolong the diagnosis time, and therapeutic approach requires a multidisciplinary team [ 4 ].…”

“…The two main groups of GI hamartomas are the hamartomatous familial gastrointestinal polyposis [ 5 ] and vascular hamartomas [ 4 , 6 – 8 ]. The other uncommon subtypes include mesenchymal [ 3 ] and heterotopic hamartomas (e.g., ectopic pancreas or gastric mucosa, gastric duplication, and duplication cysts) [ 9 – 11 ].…”