Child ; Humans ; Adenomatous Polyposis Coli/therapy*

BACKGROUND: Previous studies on synchronous colorectal carcinoma (SCRC) have reported inconsistent results about its clinicopathologic and molecular features and prognostic significance. METHODS: Forty-six patients with multiple advanced tumors (T2 or higher category) who did not receive neoadjuvant chemotherapy and/or radiotherapy and who are not associated with familial adenomatous polyposis were selected and 99 tumors from them were subjected to clinicopathologic and molecular analysis. Ninety-two cases of solitary colorectal carcinoma (CRC) were selected as a control considering the distributions of types of surgeries performed on patients with SCRC and T categories of individual tumors from SCRC. RESULTS: SCRC with multiple advanced tumors was significantly associated with more frequent nodal metastasis (p = .003) and distant metastasis (p = .001) than solitary CRC. KRAS mutation, microsatellite instability, and CpG island methylator phenotype statuses were not different between SCRC and solitary CRC groups. In univariate survival analysis, overall and recurrence-free survival were significantly lower in patients with SCRC than in patients with solitary CRC, even after adjusting for the extensiveness of surgical procedure, adjuvant chemotherapy, or staging. Multivariate Cox regression analysis revealed that tumor multiplicity was an independent prognostic factor for overall survival (hazard ratio, 4.618; 95% confidence interval, 2.126 to 10.030; p < .001), but not for recurrence-free survival (p = .151). CONCLUSIONS: Findings suggested that multiplicity of advanced T category–tumors might be associated with an increased risk of nodal metastasis and a risk factor for poor survival, which raises a concern about the guideline of American Joint Committee on Cancer's tumor-node-metastasis staging that T staging of an index tumor determines T staging of SCRC.
Adenomatous Polyposis Coli ; Chemotherapy, Adjuvant ; Colorectal Neoplasms ; CpG Islands ; Drug Therapy ; Humans ; Joints ; Microsatellite Instability ; Neoplasm Metastasis ; Phenotype ; Radiotherapy ; Risk Factors

Serrated polyposis syndrome (SPS) is closely associated with the initiation and development of colorectal cancer (CRC), however, there is few research on SPS in China. Serrated polyps can be divided into hyperplastic polyps, sessile serrated polyps and traditional serrated polyps. The diagnosis standard of SPS is as following: (1) There are at least 5 serrated lesions in proximal colon, and diameter of more than 2 lesions is >10 mm; (2) The patient has one serrated polyp with family history of SPS; (3) More than 20 serrated polyps can be found in the entire large bowel. The risk of SPS is relatively high in the development of colorectal cancer and 25%-70% of the SPS patients is diagnosed with synchronous or metachronous colorectal cancer during following-up. The clinical characteristics of SPS include that patients are relatively old; no significant racial difference exists in the morbidity; patients have family history of colorectal cancer. The mutation of BRAF or KRAS gene, which induces colorectal cancer through the RAS-RAF-MAPK signaling pathway, is often found in SPS as well as CpG island methylation phenotype (CIMP) and microsatellite instability (MSI). The difference between SPS and traditional familial adenomatous polyposis (FAP) should be noted because of the different pathology mechanism, clinical characteristics and the risk of malignancy. Nowadays, the common technologies of detecting serrated polyps are auto-fluorescence imaging (AFI) and narrow-band imaging (NBI), whose detective rate is around 55%. The SPS patients are advised to undergo the resection of all the serrated polyps with diameter larger than 3-5 mm and receive the colonoscopy examination every 1 or 2 year. Not only the research about SPS is on the initiation step and the molecular mechanism is still unknown, but also the scholars do not come to achieve agreement about the risk of SPS in the malignancy of colorectal cancer, which is essential for further research therefore.
Adenoma ; genetics ; pathology ; therapy ; Adenomatous Polyposis Coli ; genetics ; pathology ; therapy ; Colonic Polyps ; Colonoscopy ; Colorectal Neoplasms ; genetics ; pathology ; therapy ; DNA Methylation ; Genes, ras ; Humans ; Microsatellite Instability ; Mutation ; Phenotype ; Proto-Oncogene Proteins B-raf ; Syndrome

Adenomatous Polyposis Coli ; diagnosis ; drug therapy ; genetics ; surgery ; Antineoplastic Agents ; therapeutic use ; Colectomy ; Colorectal Neoplasms, Hereditary Nonpolyposis ; diagnosis ; drug therapy ; genetics ; surgery ; DNA Mismatch Repair ; Humans ; Ileostomy ; Peutz-Jeghers Syndrome ; diagnosis ; drug therapy ; genetics ; surgery

OBJECTIVETo investigate the correlation of hypermethylation of BRCA1 and APC gene promoters with the response to anthracycline-based neoadjuvant chemotherapy in primary breast cancer.

METHODSOne hundred and forty patients with primary breast cancer received anthracycline-based neoadjuvant chemotherapy, and pretreatment hypermethylation status of BRCA1 and APC genes promoters was detected by methylation-specific PCR.

RESULTSOf the 140 patients, 30 (21.4%) achieved pathological complete response (pCR), and methylation rates of BRCA1 and APC gene promoters were 21.4% (30/140) and 18.3% (24/131), respectively. Among the 110 patients with unmethylated BRCA1 gene, 28 (25.5%) achieved pCR, while in the 30 patients with methylated BRCA1 gene, only 2 (6.7%) had a pCR, with a significant difference between the two groups (chi(2) = 4.94, P = 0.026). However, no statistically significant correlation was found between the methylation of APC gene and pCR to neoadjuvant chemotherapy in this cohort of patients (P > 0.05).

CONCLUSIONPrimary breast cancer with an unmethylated BRCA1 gene is prone to achieve a pathological complete response to anthracycline-based neoadjuvant chemotherapy than those with a methylated BRCA1 gene. BRCA1 methylation status may be a useful predictor for anthracycline-based neoadjuvant chemotherapy in primary breast cancer patients.

Adenomatous Polyposis Coli Protein ; genetics ; metabolism ; Adult ; Aged ; Anthracyclines ; therapeutic use ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; BRCA1 Protein ; genetics ; metabolism ; Breast Neoplasms ; drug therapy ; genetics ; metabolism ; pathology ; CpG Islands ; genetics ; Cyclophosphamide ; therapeutic use ; DNA Methylation ; Epirubicin ; therapeutic use ; Female ; Fluorouracil ; therapeutic use ; Humans ; Middle Aged ; Neoadjuvant Therapy ; Neoplasm Staging ; Remission Induction ; Young Adult

Turcot syndrome is characterized by the concurrence of a primary neuroepithelial brain tumor and multiple colorectal polyposis. We report a case of a 24-year-old woman diagnosed with Turcot syndrome. At first, the patient was diagnosed as having a medulloblastoma after a tumorectomy of the 4th ventricle mass. The patient underwent radiotherapy and chemotherapy. After high-dose chemotherapy, neutropenic fever and severe mucositis developed. For an evaluation of the persistent hematochezia and diarrhea, a colonoscopy was performed. It revealed pseudomembranous colitis and multiple polyps in the entire colon. According to the family history, her father had undergone a total colectomy due to colon cancer and polyposis of the entire colon. Her brother also was found to have multiple polyps in the colon by a colonoscopy. The patient was diagnosed with Turcot syndrome.
Adenomatous Polyposis Coli* ; Brain Neoplasms ; Colectomy ; Colon ; Colonic Neoplasms ; Colonoscopy ; Diarrhea ; Drug Therapy ; Enterocolitis, Pseudomembranous ; Fathers ; Female* ; Fever ; Gastrointestinal Hemorrhage ; Humans ; Medulloblastoma* ; Mucositis ; Polyps ; Radiotherapy ; Siblings ; Young Adult*

Familial adenomatous polyposis (FAP) is a hereditary disease characterized by the appearance of numerous polyps in the large bowel with a high potential for malignant transformation unless untreated. A variety of extracolonic manifestations were reported such as osteoma, epidermoid cyst, desmoid tumor, gastroduodenal polyps, small bowel tumor, congenital hypertrophy of the retinal pigment epithelium, hepatobiliary tumor, thyroid tumor, and tumor of the central nervous system. However, the ovarian involvement of FAP as an extracolonic manifestation was very rare and there have been only few reports. We experienced a rare case of ovarian cystadenofibroma in a patient with FAP as an extracolonic manifestation. We also found colon cancer with multiple hepatic metastasis initially manifested as intestinal obstruction in the same patient. Surgical treatment and subsequent chemotherapy for colon cancer and intraoperative radiofrequency ablation of hepatic metastasis were performed.
Adenomatous Polyposis Coli* ; Catheter Ablation ; Central Nervous System ; Colonic Neoplasms ; Cystadenofibroma* ; Drug Therapy ; Epidermal Cyst ; Fibromatosis, Aggressive ; Genetic Diseases, Inborn ; Humans ; Hypertrophy ; Intestinal Obstruction ; Neoplasm Metastasis ; Osteoma ; Polyps ; Retinal Pigment Epithelium ; Thyroid Gland