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Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.

Otabor IA, Abdessalam SF, Erdman SH, Hammond S, Besner GE - World J Surg Oncol (2009)

Bottom Line: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer.All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease.Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatric Surgery, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH 43205, USA. iyore.otabor@nationwidechildrens.org

ABSTRACT

Background: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.

Case presentation: We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction.

Conclusion: A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

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Related in: MedlinePlus

CT scan of the abdomen with oral contrast demonstrating markedly dilated stomach, abnormal thickening in the region of the antrum and pylorus of the stomach, and adjacent pancreas thinned due to compression from dilated stomach. There was no intra-abdominal adenopathy.
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Related In: Results  -  Collection

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Figure 1: CT scan of the abdomen with oral contrast demonstrating markedly dilated stomach, abnormal thickening in the region of the antrum and pylorus of the stomach, and adjacent pancreas thinned due to compression from dilated stomach. There was no intra-abdominal adenopathy.

Mentions: The patient is a 20 year old female that was diagnosed with ataxia-telangiectasia syndrome at 3 years of age. She had severe ataxia and was wheelchair bound by 8 years of age. She presented with a 4 week history of non-bilious emesis, early satiety, decreased appetite and a 35 lb weight loss over a one year period. The patient had undergone evaluation for these symptoms at her local hospital. A CT scan of the abdomen suggested a pancreatic mass prompting transfer to our institution. On examination, she had notable speech and cognitive delays with scleral telangiectasias, muscle wasting and other features of malnutrition. Her abdominal examination revealed a soft, non-distended abdomen with no palpable masses. Her laboratory studies were remarkable for hypokalemic, hypochloremic metabolic alkalosis, a pre-albumin level of 15 mg/dL (normal: 23–48 mg/dL), an IgG level of 461 mg/dL (normal: 546–1842 mg/dL) and an absolute lymphocyte count of 187/cu mm (normal: 1000–4800/cu mm). Other immunoglobulin levels [IgA (186 mg/dL), IgM (70 mg/dL) and IgE (<1 U/mL] were within normal limits. She was started on total parenteral nutrition (TPN) immediately upon admission. A repeat CT scan of the abdomen revealed a dilated, hypertrophied stomach consistent with chronic gastric outlet obstruction, abnormal thickening of the antrum and pylorus, and a normal appearing pancreas (Figure 1). Esophagogastroduodenoscopy (EGD) demonstrated diffuse gastritis and esophagitis with a normal appearing duodenum. She was subsequently placed on Pantoprazole®, Azithromycin® and Metronidazole® for presumed Helicobacter pylori infection, and kept on continuous nasogastric decompression for persistent emesis. Gastric biopsies identified non-candida fungi on the gastric epithelium and rare lymphoid aggregates in the lamina propria. A Diff-Quik stain for Helicobacter pylori on the biopsied specimen was negative prompting discontinuation of the triple antibody therapy. Several attempts to remove the nasogastric tube were unsuccessful, and so an upper GI series was obtained. This revealed a complete gastric obstruction (Figure 2). To address a possible submucosal infiltrative process such as lymphoma, a repeat EGD was performed to obtain deeper biopsy specimens. At this time, the scope could not be advanced into the duodenum. Deep antral biopsies identified gastric adenocarcinoma. A metastatic workup including chest CT scan and bone scan revealed no evidence of disease. After having received almost 2 weeks of TPN, she was taken to the operating room for exploratory laparotomy. Intra-operatively, she was found to have a large gastric mass involving the distal stomach which was determined to be resectable. During the dissection, there were dense adhesions between the posterior wall of the duodenum and the pancreas that were able to be divided. The tumor was resected by removing 2/3 of the distal stomach, with a minimum of 4.5 cm margins proximally and 2 cm margins distally. These margins were free of tumor on frozen and final pathologic exam. The pancreatic surface in the area of resection was biopsied in the operating room due to the finding of adhesions between the stomach and pancreas. The frozen sections showed no evidence of malignancy however, the permanent sections later revealed the presence of a focus of tumor. The patient was reconstructed with a Billroth II gastrojejunostomy after oversewing of the duodenal stump, and a feeding jejunostomy tube and Blake drain were placed. Final histologic evaluation revealed a well to moderately differentiated invasive intestinal-type adenocarcinoma of the stomach with invasion through the muscularis to the serosa, and multifocal vascular and lymphatic invasion.


Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.

Otabor IA, Abdessalam SF, Erdman SH, Hammond S, Besner GE - World J Surg Oncol (2009)

CT scan of the abdomen with oral contrast demonstrating markedly dilated stomach, abnormal thickening in the region of the antrum and pylorus of the stomach, and adjacent pancreas thinned due to compression from dilated stomach. There was no intra-abdominal adenopathy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2662841&req=5

Figure 1: CT scan of the abdomen with oral contrast demonstrating markedly dilated stomach, abnormal thickening in the region of the antrum and pylorus of the stomach, and adjacent pancreas thinned due to compression from dilated stomach. There was no intra-abdominal adenopathy.
Mentions: The patient is a 20 year old female that was diagnosed with ataxia-telangiectasia syndrome at 3 years of age. She had severe ataxia and was wheelchair bound by 8 years of age. She presented with a 4 week history of non-bilious emesis, early satiety, decreased appetite and a 35 lb weight loss over a one year period. The patient had undergone evaluation for these symptoms at her local hospital. A CT scan of the abdomen suggested a pancreatic mass prompting transfer to our institution. On examination, she had notable speech and cognitive delays with scleral telangiectasias, muscle wasting and other features of malnutrition. Her abdominal examination revealed a soft, non-distended abdomen with no palpable masses. Her laboratory studies were remarkable for hypokalemic, hypochloremic metabolic alkalosis, a pre-albumin level of 15 mg/dL (normal: 23–48 mg/dL), an IgG level of 461 mg/dL (normal: 546–1842 mg/dL) and an absolute lymphocyte count of 187/cu mm (normal: 1000–4800/cu mm). Other immunoglobulin levels [IgA (186 mg/dL), IgM (70 mg/dL) and IgE (<1 U/mL] were within normal limits. She was started on total parenteral nutrition (TPN) immediately upon admission. A repeat CT scan of the abdomen revealed a dilated, hypertrophied stomach consistent with chronic gastric outlet obstruction, abnormal thickening of the antrum and pylorus, and a normal appearing pancreas (Figure 1). Esophagogastroduodenoscopy (EGD) demonstrated diffuse gastritis and esophagitis with a normal appearing duodenum. She was subsequently placed on Pantoprazole®, Azithromycin® and Metronidazole® for presumed Helicobacter pylori infection, and kept on continuous nasogastric decompression for persistent emesis. Gastric biopsies identified non-candida fungi on the gastric epithelium and rare lymphoid aggregates in the lamina propria. A Diff-Quik stain for Helicobacter pylori on the biopsied specimen was negative prompting discontinuation of the triple antibody therapy. Several attempts to remove the nasogastric tube were unsuccessful, and so an upper GI series was obtained. This revealed a complete gastric obstruction (Figure 2). To address a possible submucosal infiltrative process such as lymphoma, a repeat EGD was performed to obtain deeper biopsy specimens. At this time, the scope could not be advanced into the duodenum. Deep antral biopsies identified gastric adenocarcinoma. A metastatic workup including chest CT scan and bone scan revealed no evidence of disease. After having received almost 2 weeks of TPN, she was taken to the operating room for exploratory laparotomy. Intra-operatively, she was found to have a large gastric mass involving the distal stomach which was determined to be resectable. During the dissection, there were dense adhesions between the posterior wall of the duodenum and the pancreas that were able to be divided. The tumor was resected by removing 2/3 of the distal stomach, with a minimum of 4.5 cm margins proximally and 2 cm margins distally. These margins were free of tumor on frozen and final pathologic exam. The pancreatic surface in the area of resection was biopsied in the operating room due to the finding of adhesions between the stomach and pancreas. The frozen sections showed no evidence of malignancy however, the permanent sections later revealed the presence of a focus of tumor. The patient was reconstructed with a Billroth II gastrojejunostomy after oversewing of the duodenal stump, and a feeding jejunostomy tube and Blake drain were placed. Final histologic evaluation revealed a well to moderately differentiated invasive intestinal-type adenocarcinoma of the stomach with invasion through the muscularis to the serosa, and multifocal vascular and lymphatic invasion.

Bottom Line: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer.All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease.Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatric Surgery, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH 43205, USA. iyore.otabor@nationwidechildrens.org

ABSTRACT

Background: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.

Case presentation: We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction.

Conclusion: A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

Show MeSH
Related in: MedlinePlus