British Journal of Radiology (2005) 78, 1095-1097
© 2005 British Institute of Radiology
doi: 10.1259/bjr/28935759
Plexiform neurofibroma of the oesophagus: a mimicker of malignancy
A Ganeshan, BSc, MB BCh, MRCP
1
L Q Hon, MB BCh, MRCP
2
Z Soonawalla, MS, FRCS
1 and
H De'Costa, FRCR
1
1 John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU and 2 Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK
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Abstract
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We report the first case of a plexiform neurofibroma of the oesophagus, presenting with dysphagia in a 67-year-old man known to suffer from von Recklinghausen's neurofibromatosis. The clinical symptoms and radiological findings mimicked malignancy, and raised considerable concern. Numerous investigations failed to elucidate the benign nature of the condition. The diagnosis was finally achieved at surgery and the patient was successfully treated by oesophageal resection. Plexiform neurofibromas, though only found in 20–30% of affected individuals are pathognomonic of von Recklinghausen's neurofibromatosis. This report highlights the tendency of plexiform neurofibromas to grow extensively and encase surrounding structures, thereby mimicking a neoplastic process.
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Introduction
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Plexiform neurofibroma (PN), a large diffuse plexiform mass that usually occurs in the neck, pelvis or extremities, is considered pathognomonic of von Recklinghausen's neurofibromatosis (NF1) [1, 2]. We performed a Medline search from 1956 to November 2004 using key words "oesophageal plexiform neurofibroma", "gullet plexiform neurofibroma" and "dysphagia and plexiform neurofibroma", and obtained no reported cases. We present therefore, to our knowledge, the first clinical case of a PN causing compression of the oesophagus and resulting in progressive dysphagia, in a patient known to suffer with NF1. This case illustrates the difficulties faced in elucidating the nature of these plexiform lesions, which tend to encase adjacent structures and mimic malignancy. It demonstrates the occasional need for extensive surgery for benign pathology such as neurofibromas.
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Case report
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A 67-year-old retired driver known to have NF1 was admitted with progressive painless dysphagia over 8 weeks. He had lost about 1.5 stones in weight over this period of time. General examination showed cutaneous evidence of neurofibromatosis. Oesophagogastroduodenoscopy revealed a distal oesophageal stricture beginning 35 cm from the incisors, with no obvious mucosal abnormality. Mild gastritis and duodenitis were also noticed during the examination. The endoscope passed through the stricture with some difficulty. A number of biopsies were obtained, which showed the presence of H. pylori and candida infection, but no features of malignancy. The patient was given H. pylori eradication treatment. As the suspicion of a malignant stricture remained high, the endoscopy was repeated and further biopsies were obtained from the oesophageal stricture. At this procedure, the oesophagus was noticed to be distended proximal to the stricture, but showed no mucosal ulceration or inflammation.
CT of the patient's thorax and abdomen revealed marked thickening of the wall of the distal oesophagus (Figure 1
). A number of lesions were identified at the level of coeliac artery measuring more than 6 cm in diameter, which were thought to be enlarged lymph nodes (Figure 2). The perioesophageal nodular-like lesion had no retroperitoneal communication. A diagnosis of oesophageal carcinoma with nodal metastases was considered likely, despite negative endoscopic and fluoroscopic findings. A third endoscopic examination again failed to show any histological evidence of a carcinoma. Endoscopic ultrasound (EUS) showed extensive encasement of the oesophagus by a number of nodular submucosal and extrinsic lesions in the lower medistinum. Attempted EUS assisted biopsy failed to yield adequate specimen for diagnosis.
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Figure 1. A CT revealing marked thickening of the wall of the distal oesophagus with a finger-like protrusion extending into the lumen.
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Figure 2. CT showing a number of nodular lesions measuring more than 6 cm in diameter encasing the coeliac artery, which were initially thought to be enlarged coeliac lymph nodes.
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Barium swallow was performed subsequently with a view to possible balloon dilatation to relief the patient's worsening dysphagia. The swallow examination showed a mass-like indentation of the lower oesophagus as well as an impression on the cardia and adjacent fundus of the stomach, with proximal dilatation of the oesophagus. The whole oesophagus appeared highly tortuous with impaired motility. A diagnosis of pseudoachalasia due to some form of extrinsic lesion was made at this stage (Figure 3).
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Figure 3. Barium swallow examination showing a mass like indentation of the lower oesophagus as well as an impression on the cardia and adjacent fundus of the stomach, with proximal dilatation of the oesophagus. The appearances are of pseudoachalasia.
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The patient underwent laparotomy as a last resort to identify the cause of dysphagia. At surgery a number of nodular lesions were found encasing the oesophagus, and similar lesions were also noticed around the small bowel. Some of these nodules were excised for histological examination and confirmed to be plexiform neurofibromas. Pneumatic dilatation to 40 mm failed to relieve the dysphagia. A left thoracoabdominal oesophagogastrectomy was subsequently performed, with no complications and good symptomatic improvement. The resected specimen showed numerous cord-like lesions protruding externally from the muscle wall and the adventitia, and surrounding the distal oesophagus. Microscopic examination confirmed these lesions to be PNs involving serosal and muscularis propria layers of oesophagus.
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Discussion
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Neurofibromatosis is an autosomal dominant genetic disorder with variable penetrance. It has two distinct forms, NF1 and NF2. NF1 or von Recklinghausen's disease, the more common variety, is characterized by café au lait spots, skin fold freckles and cutaneous neurofibromas. NF2, on the other hand, is characterized by the development of acoustic neuromas, meningiomas, schwannomas, gliomas and juvenile posterior subcapsular lenticular opacities [1, 2]. The genes for NF1 and NF2 have been localized to chromosomes 17 and 22, respectively [3, 4].
Neurofibromas can be divided into three types: localized, diffuse or plexiform. Localized neurofibromas are far more common; PNs, though found in only 20–30% of affected individuals, are considered pathognomonic of NF1 [5]. They may occur anywhere, but most commonly involve the fifth cranial nerve [1, 2]. Given the rich distribution of peripheral nerves in the thorax, it is not surprising that NF1 manifests throughout the thorax. Neurofibromas in the thorax may involve the ribs, chest wall, lungs or mediastinum. Oesophageal involvement by localized neurofibromas has been described [6], but, to our knowledge, this is the first case of PN involving the oesophagus reported in the literature.
Histologically, a PN represents diffuse involvement of a long nerve segment and its branches, giving a "bag of worms" appearance. Because of their large size, PNs commonly extend to and encase surrounding structures. Narrowing of blood vessels due to encasement by PNs, and resulting ischaemia of various organs, has been reported [7]. As they form extensive fusiform or infiltrating masses, they can closely mimic malignancy or lymphadenopathy, and pose a real challenge in elucidating the true diagnosis. Their tendency to involve surrounding structures results in the occasional need for extensive surgery, despite their benign nature.
This case report illustrates a very rare cause of an oesophageal stricture. It also raises the issues of the specificity and appropriateness of investigations. Diagnostic imaging is not always straight forward and predictable. There is always the potential for imaging reports to suggest incorrect diagnosis.
Received for publication March 1, 2005.
Revision received April 18, 2005.
Accepted for publication April 26, 2005.
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References
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- Korf BR. Plexiform neurofibromas. Am J Med Genet 1999;89:31–7.[CrossRef][Medline]
- NIH Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol 1988;45:575–8.[Abstract/Free Full Text]
- Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;236:1100–2.[Abstract/Free Full Text]
- Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246–8.[CrossRef][Medline]
- Klune L, Friedrich RE, Korf B, Fahsold R, Mautner VF. NF1 mutation in neurofibromatosis patients with neurofibromas. Hum Mutat 2002;19:309.[Medline]
- Sturdy DE. Neurofibroma (syn neurilemmoma) of the oesophagus. Br J Surg 1967;54:315–7.[Medline]
- Fortman BJ, Kuszyk BS, Urban BA, Fishman EK. Neurofibromatosis Type 1: a diagnostic mimicker at CT. Radiographics 2001;21:601–12.[Abstract/Free Full Text]
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Abstract
Introduction
