Intestinal neurofibromatosis and small-bowel adenocarcinoma: a single case study

Stratopoulos, Charalabos; Papakonstantinou, Alexandros; Anagnostopoulos, George K.; Terzis, Ioannis; Tzimas, George N.; Gourgiotis, Stavros; Vamvouka, C.; Hadjiyannakis, E

doi:10.1111/j.1365-2354.2007.00888.x

Cited by 8 publications

(3 citation statements)

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“…From the first published article in 1972–2013 we identified 25 articles reporting 25 patients with von Recklinghausen's disease who underwent laparotomy for acute intestinal obstruction , and with the addition of three patients from our institution (Table ) the mean age was 44.2 (0.5–73) years. The male/female ratio was approximately 1/1.…”

Section: Resultsmentioning

confidence: 99%

Intestinal obstruction in von Recklinghausen's disease

Trilling

Faucheron

2014

Colorectal Disease

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Aim Gastrointestinal manifestations occur in up to 25% of patients with neurofibromatosis type 1. This review reports all published cases of acute intestinal obstruction due to neurofibromatosis type 1 and identifies mechanisms of obstruction, the nature of the tumour and the outcome. Method A systematic review of the literature on acute intestinal obstruction due to neurofibromatosis type 1 was performed by searching the major electronic databases. All relevant references were reviewed for possible inclusion. All the references of the relevant articles were screened for any further articles that were missed in the initial search. Results We identified 25 articles from 1972 to 2013 reporting 25 patients with von Recklinghausen's disease who underwent laparotomy for acute intestinal obstruction. Three further patients were operated on in our institution. The mean age of the patients was 44.2 years and the male/female ratio 15/13. The mechanisms of obstruction were intrinsic obstruction (16), extrinsic obstruction (8) and intussusception (4). Histology was reported to show neurofibroma (19), gastrointestinal stromal tumour (5) and adenocarcinoma (4). Among patients whose outcome was mentioned (17), 10 were asymptomatic after a mean follow‐up of 1.5 years. Conclusion Acute bowel obstruction is a rare manifestation of neurofibromatosis type 1. Surgery is often necessary to treat the complication and to determine the exact nature of the tumour and the prognosis.

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Section: Resultsmentioning

confidence: 99%

Intestinal obstruction in von Recklinghausen's disease

Trilling

Faucheron

2014

Colorectal Disease

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“…In a few cases concomitancy between neurofibromatosis, and gastric adenocarcinoma has been reported [6]. In neurofibromatosis patients with gastrointestinal tumors signs, and symptoms as abdominal pain, bleeding, and manifestations of intussusception are present, and most of the cases are incidentally detected during laparotomies performed for other indications, postmortem examinations, and gastrointestinal barium series [7]. In patients with neurofibromatosis the most frequently seen gastrointestinal tumors are stromal tumors which frequently localized on stomach, and small bowels [4].…”

Section: Discussionmentioning

confidence: 99%

A rare malignancy in a patient with neurofibromatosis: Gastric adenocarcinoma.

Barut

Ince

Özdemir

et al. 2015

North Clin Istanbul

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Neurofibromatosis is an autosomal dominant disease that is characterized by cutaneous hyperpigmentation and multiple neurofibromas and often accompanied by localized peripheral and central neural tumors. Gastrointestinal involvement is seen in 25% of the cases. Gastrointestinal stromal tumors, pancreatic and duodenal neuroendocrine tumors are the most common tumors in patients with neurofibromatosis. Neurofibromatosis and gastric adenocarcinoma constitute an extremely rare combination. In this case report we aim to present a patient with neurofibromatosis operated due to gastric adenocarcinoma.

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“…A strong association with NF1 has been established for most of these tumour groups. The miscellaneous category comprises mainly carcinomas of the gastrointestinal and hepatobiliary tracts, which have been reported as individual case reports involving the oesophagus, stomach, duodenum, small bowel, colon and pancreaticobiliary tract 2,3,5–12 . There have also been two case reports of hepatocellular carcinoma in patients with NF1, one in a 6‐year old child 13,14 .…”

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Hepatoid gastric adenocarcinoma in a patient with type 1 neurofibromatosis

Verma

Loughrey

2011

Histopathology

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55; 442-443. 5. Fleming A. On a remarkable bacteriolytic element found in tissues and secretions. Proc. R. Soc. Lond. 1922; 93; 306-317. 6. Rubio CA, Befrits R. Increased lysozyme expression in gastric biopsies with intestinal metaplasia and pseudopyloric metaplasia. Int. J. Clin. Exp. Med. 2009; 2; 248-253. 7. Rubio CA, Nesi G. A simple method to demonstrate normal and metaplastic Paneth cells in tissue sections.Sir: Von Recklinghausen, or type 1, neurofibromatosis (NF1) belongs to a group of disorders referred to as phakomatoses, or neurocutaneous syndromes, characterized by disordered growth of ectodermal tissues, thereby primarily involving the skin, nervous system and ⁄ or retina. The most common clinical manifestations are café-au-lait spots, neurofibromas, Lisch nodules, and axillary or inguinal freckling. There is also a high prevalence of benign and malignant neoplasms throughout the body. The incidence of gastrointestinal involvement in NF1 is reported to be 10-25%, the most common associated tumours being gastrointestinal stromal tumours (GISTs), neurofibromas and carcinoid tumours. 1 Much more rarely, epithelial tumours of the gastrointestinal and hepatobiliary tracts have been described, as individual case reports, including two individual reports of gastric adenocarcinoma, both described as probable chance associations. 2,3 Here, we describe the first case of the hepatoid variant of gastric adenocarcinoma arising in a patient with NF1, expanding the range of epithelial tumours reported in association with NF1.A 54-year-old man, with an established diagnosis of NF1, presented with a 3-month history of anaemia. Haematological investigations revealed a microcytic anaemia, and liver function test results and the serum a-fetoprotein (AFP) level were normal. Upper gastrointestinal imaging and subsequent endoscopy revealed an ulcerating tumour in the gastric cardia. Multiple perigastric soft tissue masses were also evident on abdominal computed tomography. There was no evidence of distant metastatic disease. Endoscopic biopsies revealed a carcinoma with focal gland formation, and a diagnosis of adenocarcinoma was made. Following a course of neoadjuvant chemotherapy, an oesophagogastrectomy with lymph node resection was performed.Dissection of the oesophagogastrectomy specimen demonstrated a 40-mm-diameter ulcerating tumour at the gastric cardia, extending to involve the gastrooesophageal junction. Numerous small pale rubbery nodules measuring up to 10 mm in diameter were identified within perigastric fat and on the serosal surface of the stomach, and were macroscopically distinguishable from more fleshy regional lymph nodes. Histology of the primary tumour showed areas of intestinal-type adenocarcinoma comprising approximately 15% of the tumour ( Figure 1A). The remainder of the tumour had a more solid and trabecular architecture ( Figure 1B). Tumour cells were polygonal with abundant eosinophilic cytoplasm and prominent nucleoli. No bile pigment or hyaline globule formation was evident. There was extensiv...

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Intestinal neurofibromatosis and small-bowel adenocarcinoma: a single case study

Cited by 8 publications

References 8 publications

Intestinal obstruction in von Recklinghausen's disease

Intestinal obstruction in von Recklinghausen's disease

A rare malignancy in a patient with neurofibromatosis: Gastric adenocarcinoma.

Hepatoid gastric adenocarcinoma in a patient with type 1 neurofibromatosis

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