Cronkhite-Canada syndrome polyps infiltrated with IgG4-positive plasma cells.

Cronkhite-Canada syndrome (CCS) is a rare but serious protein-losing enteropathy, but little is known about the mechanism. Further more, misdiagnosis is common due to non-familiarity of its clinical manifestation. A 40-year-old male patient was admitted to our hospital because of diarrhea and hypogeusia associated with weight loss for 4 mo. On physical examination, skin pigmentation, dystrophic nail changes and alopecia were noted. He had no alike family history. Laboratory results revealed low levels of serum albumin (30.1 g/L, range: 35.0-55.0 g/L), serum potassium (2.61 mmol/L, range: 3.5-5.5 mmol/L) and blood glucose (2.6 mmol/L, range: 3.9-6.1 mmol/L). The erythrocyte sedimentation rate was elevated to 17 mm/h (range: 0-15 mm/h). X-ray of chest and mandible was normal. The endoscopic examination showed multiple sessile polyps in the stomach, small bowel and colorectum. Histopathologic examination of biopsies obtained from those polyps showed hyperplastic change, cystic dilatation and distortion of glands with inflammatory infiltration, eosinophilic predominance and stromal edema. Immune staining for IgG4 plasma cells was positive in polyps of stomach and colon. The patient was diagnosed of CCS and treated with steroid, he had a good response to steroid. Both histologic findings and treatment response to steroid suggested an autoimmune mechanism underling CCS.

Immunoglobulin G4-related autoimmune pancreatitis and sialadenitis: A case report.

Immunoglobulin G4 (IgG4)-related disease is a rare systemic diseases. A 67-year-old male presented at our institution with mild upper abdominal pain and jaundice for 20 d. Laboratory results revealed high levels of IgG4 (15.4 g/L, range: 0.08-1.4 g/L). Computed tomography (CT) showed significant enlargement of the entire pancreas and a capsule-like low-density rim surrounding the whole pancreas. Positron emission tomography/CT revealed increased uneven metabolism of the entire pancreas. Both magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography showed stenosis of the distal common bile duct and proximal main pancreatic duct, and dilation of the proximal common bile duct and extra- and intra-hepatic bile ducts. He was diagnosed with IgG4-related autoimmune pancreatitis. The patient was treated with prednisone for 14 mo. The patient responded well to prednisone but upon cessation of the corticosteroid developed enlargement of the submandibular gland. The patient's serum IgG4 was elevated at 23.9 g/L. It is important to maintain treatment, so the patient was again treated with prednisone and had a good response. Follow-up of IgG4-related disease is thus necessary.

A case of Peutz-Jeghers syndrome associated with high-grade intramucosal neoplasia.

Peutz-Jeghers syndrome (PJS) is a rare, inherited autosomal dominant disease characterized by mucocutaneous pigmentation and polyps in the gastrointestinal tract. Here, we report the rare case of a 64-year-old female patient with pigmentation on her lips and extremities for over 63 years and intermittent abdominal pain and, diarrhea for 3 years. The presence of intestinal and colorectal hamartomatous polyps was confirmed. The removal and characterization of her rectal polyp showed it to be a typical hamartomatous polyp with a portion of it being an adenoma with high-grade intramucosal neoplasia. A survey of the patient's family identified 9 people in the family with Peutz-Jeghers syndrome and three of them have already died from colorectal cancer. This case study serves as an example of how imperative it is to survey the patient about their family history in order to detect early cancerous lesions.

Corticosteroid therapy in ulcerative colitis: Clinical response and predictors.

AIM: To evaluate clinical response to initial corticosteroid (CS) treatment in Chinese ulcerative colitis patients (UC) and identify predictors of clinical response. METHODS: Four hundred and twenty-three UC patients who were initially treated with oral or intravenous CS from 2007 to 2011 were retrospectively reviewed at eight inflammatory bowel disease centers in China, and 101 consecutive cases with one-year follow-up were analyzed further for clinical response and predictors. Short-term outcomes within one month were classified as primary response and primary non-response. Long-term outcomes within one year were classified as prolonged CS response, CS dependence and secondary non-response. CS refractoriness included primary and secondary non-response. Multivariate analyses were performed to identify predictors associated with clinical response. RESULTS: Within one month, 95.0% and 5.0% of the cases were classified into primary response and non-response, respectively. Within one year, 41.6% of cases were assessed as prolonged CS response, while 49.5% as CS dependence and 4.0% as secondary non-response. The rate of CS refractoriness was 8.9%, while the cumulative rate of surgery was 6.9% within one year. After multivariate analysis of all the variables, tenesmus was found to be a negative predictor of CS dependence (OR = 0.336; 95%CI: 0.147-0.768; P = 0.013) and weight loss as a predictor of CS refractoriness (OR = 5.662; 95%CI: 1.111-28.857; P = 0.040). After one-month treatment, sustained high Sutherland score (≥ 6) also predicted CS dependence (OR = 2.347; 95%CI: 0.935-5.890; P = 0.014). CONCLUSION: Tenesmus was a negative predictor of CS dependence, while weight loss and sustained high Sutherland score were strongly associated with poor CS response.

Dynamic changes and surveillance function of prion protein expression in gastric cancer drug resistance.

AIM: To explore the dynamic changes of prion protein (PrPc) in the process of gastric cancer drug resistance and the role of PrPc expression in the prognosis of gastric cancer patients receiving chemotherapy. METHODS: A series of gastric cancer cell lines resistant to different concentrations of adriamycin was established, and the expression of PrPc, Bcl-2 and Bax was detected in these cells. Apoptosis was determined using Annexin V staining. Western blotting and immunohistochemistry were performed to detect the expression of PrPc in patients receiving chemotherapy and to explore the role of PrPc expression in predicting the chemosensitivity and the outcome of gastric cancer patients receiving chemotherapy. Follow-up was performed for 2 years. RESULTS: PrPc expression was increased with the increase in drug resistance. Bcl-2, together with PrPc, increased the level of anti-apoptosis of cancer cells. Increased PrPc expression predicted the enhanced level of anti-apoptosis and resistance to anticancer drugs. PrPc expression could be used as a marker for predicting the efficacy of chemotherapy and the prognosis of gastric cancer. Increased PrPc expression predicted both poor chemosensitivity and a low 2-year survival rate. Contrarily, low PrPc expression predicted favorable chemosensitivity and a relatively high 2-year survival rate. CONCLUSION: PrPc expression is associated with histological types and differentiation of gastric cancer cells; The PrPc expression level might be a valuable marker in predicting the efficacy of chemotherapy and the prognosis of gastric cancer patients receiving chemotherapy.

APC gene mutations in Chinese familial adenomatous polyposis patients.

AIM: To study the characteristics of APC (adenomatous polyposis coli) gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP). METHODS: APC gene from 14 FAP families was amplified by polymerase chain reaction (PCR) and underwent direct sequencing to determine the micromutation type. For the samples without micromutation, the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification (MLPA). RESULTS: There were gene micromutations in 9 families with a micromutation detection rate of 64.3% (9/14), including 6 frameshift mutations (66.7%), 1 nonsense mutation (11.1%) and 2 splicing mutations (22.2%). Large fragment deletions were detected by MLPA in 2 families. The total mutation detection rate of micromutations and large fragment deletions was 78.6% (11/14). CONCLUSION: The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.

[Colorectal exfoliated cell in stool and its nuclear DNA quantitative analysis for diagnosis of colorectal cancer].

BACKGROUND AND OBJECTIVES: Detection of colorectal exfoliated epithelial cells and their nuclear DNA content may provide another non-invasive way of screening and early diagnosis of colorectal cancer. This study was designed to analyze the roles of exfoliated cells in stool and its nuclear DNA content in diagnosis of colorectal cancer. METHODS: 1. One hundred and seventy nine individuals were selected, forty-six of them had pathological confirmation of colorectal carcinoma. The other 133 persons had no colonoscopic evidence of colorectal malignancy and therefore served as control. Exfoliated cells in the stool were isolated by elutriation, and the elutriation means was modified Iyengar's method. All individuals in the study had stool specimens for occult blood test(FOBT). 2. Nuclear DNA content and morphometric quantitative analysis in the exfoliated cells was performed on the 33 patients with colorectal cancer and 30 individuals served as control. The parameters selected in this study were DNA content, nuclear area, nuclear irregular index, and percent of > or = 5C cells. RESULTS: 1 Exfoliative cytology and FOBT: In 35 of 46 cases of colorectal malignancy(76.09%), cytology was positive: 5 cases demonstrated dysplastic cells, 4 cases indicated suspected carcinoma cells, 26 cases showed carcinoma cells. The positive rate of exfoliated cells had no significant relation to locations, sizes, histomorphologies, histological differentiations, Dukes stages, and lymph node metastases of the lesion(P > 0.05). Exfoliative cytology had a 98.50% (131/133) specificity for colorectal cancer in the study. The sensitivity for colorectal cancer was no significant difference between the two methods of exfoliative cytology and FOBT (76.09% vs 84.78%, P > 0.05), but the specificity for colorectal cancer, exfoliative cytology was significant higher than FOBT(98.50% vs 73.68%, P < 0.05). 2. DNA analysis of exfoliated cells nuclear, DNA content, nuclear area, nuclear irregular index and percent of > or = 5C cells in the stool were significant higher in colorectal cancer than in control group(P < 0.05). The percentage of > or = 5C cells were significantly associated with histological grade (P < 0.05). CONCLUSIONS: 1. Detection of exfoliated cells in stool plays an important role in diagnosis of colorectal cancer. Testing of FOBT and exfoliated cells sequentially hopes to be a new useful non-invasive test for screening of colorectal cancer. 2. DNA analysis of exfoliated cell in stool may provide an objective method of determining malignant grades and diagnosis of colorectal cancer.