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Osteogenesis imperfecta, pseudoachalasia, and gastric cancer.

Mizrak D, Alkan A, Erdogdu B, Utkan G - Case Rep Gastrointest Med (2015)

Bottom Line: Pathology showed gastric adenocarcinoma unexpectedly.Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients.This is the first report of gastric cancer mimicking achalasia in a patient with OI.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, Turkey.

ABSTRACT
Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of achalasia where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking achalasia in a patient with OI.

No MeSH data available.


Related in: MedlinePlus

Blue sclera.
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fig1: Blue sclera.

Mentions: A 41-year-old woman with a short stature and blue sclera (Figure 1) was admitted to our hospital 2 years ago, with difficulty in swallowing and weight loss. We learned that she had a family history of OI and had the diagnosis of OI when she was a child. The chest radiograph showed a widened mediastinum (Figure 2) and computer tomography showed a widened esophagus (Figure 3). There was no detectable lesion by endoscopy. Esophagogram showed a dilated esophagus with an air-fluid level, which can be seen in achalasia. Confirmation was made by esophageal manometry which showed incomplete relaxation of the lower esophageal sphincter. Repeated treatment of pneumatic dilation and stent replacement was unsuccessful. Biopsy which was made from distal esophagus was reported as esophagitis. Due to the continuation of symptoms, esophagectomy and proximal gastrectomy were performed and pathology report showed adenocarcinoma, grade 2, and tumor infiltrated to serosa (T3N1M0). Because the tumor was positive in the proximal surgical margin, second surgery was performed. The anatomy of abdomen was not suitable for radiation therapy. Since the patient was in high risk group, docetaxel + 5-fluorouracil + folinic acid treatment in the adjuvant setting for 6 cycles was given. No significant adverse effect related to the chemotherapy was seen. In the literature, DPD enzyme deficiency and related toxicity secondary to 5-FU are reported for OI patients; therefore, we studied DPD enzyme activity before administration of 5-FU and found no lack of DPD enzyme activity. The patient completed her therapy 6 months ago and is still in remission without any symptoms.


Osteogenesis imperfecta, pseudoachalasia, and gastric cancer.

Mizrak D, Alkan A, Erdogdu B, Utkan G - Case Rep Gastrointest Med (2015)

Blue sclera.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4385628&req=5

fig1: Blue sclera.
Mentions: A 41-year-old woman with a short stature and blue sclera (Figure 1) was admitted to our hospital 2 years ago, with difficulty in swallowing and weight loss. We learned that she had a family history of OI and had the diagnosis of OI when she was a child. The chest radiograph showed a widened mediastinum (Figure 2) and computer tomography showed a widened esophagus (Figure 3). There was no detectable lesion by endoscopy. Esophagogram showed a dilated esophagus with an air-fluid level, which can be seen in achalasia. Confirmation was made by esophageal manometry which showed incomplete relaxation of the lower esophageal sphincter. Repeated treatment of pneumatic dilation and stent replacement was unsuccessful. Biopsy which was made from distal esophagus was reported as esophagitis. Due to the continuation of symptoms, esophagectomy and proximal gastrectomy were performed and pathology report showed adenocarcinoma, grade 2, and tumor infiltrated to serosa (T3N1M0). Because the tumor was positive in the proximal surgical margin, second surgery was performed. The anatomy of abdomen was not suitable for radiation therapy. Since the patient was in high risk group, docetaxel + 5-fluorouracil + folinic acid treatment in the adjuvant setting for 6 cycles was given. No significant adverse effect related to the chemotherapy was seen. In the literature, DPD enzyme deficiency and related toxicity secondary to 5-FU are reported for OI patients; therefore, we studied DPD enzyme activity before administration of 5-FU and found no lack of DPD enzyme activity. The patient completed her therapy 6 months ago and is still in remission without any symptoms.

Bottom Line: Pathology showed gastric adenocarcinoma unexpectedly.Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients.This is the first report of gastric cancer mimicking achalasia in a patient with OI.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, Turkey.

ABSTRACT
Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of achalasia where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking achalasia in a patient with OI.

No MeSH data available.


Related in: MedlinePlus