The term polyp refers to any overgrowth of tissue from the surface of mucous membranes. Intestinal polyps grow out of the lining of the small and large bowels. The polyps that arise as a result of proliferative dysplasia are termed as adenomatous polyps or adenomas. They are true neoplastic lesions and are precursors of carcinoma. The hamartomatous polyps are formed as a result of abnormal mucosal maturation. They are non-neoplastic and do not have malignant potential. There are several hereditary diseases that produce large numbers of intestinal polyps. These disorders include: familial adenomatous polyposis of the colon (MIM 175100), familial adenomatous polyposis type 2(MIM 608456), Lynch's syndrome (MIM 120435), Peutz-Jeghers syndrome (MIM 175200), Juvenile polyposis syndrome (MIM 174900) PTEN Hamartoma Tumor Syndrome (PHTS) PHTS Includes: Bannayan-Riley-Ruvalcaba Syndrome (MIM 153480), Cowden Syndrome (MIM 153480), PTEN-Related Proteus Syndrome, Proteus-Like Syndrome. Here we present spectrum of mutation detected in over six hundred Polish families with intestinal polyposis. The studies have encompassed over 30 families with Juvenile polyposis syndrome and PHTS, over 40 families with Peutz-Jeghers syndrome and almost 600 families with familial adenomatous polyposis of the colon. The study was in part financed by the Ministry of Education and Science, Poland, grant number N402 481537, N401 331936.
We present an extremely rare case of late metastases of breast cancer to both suprarenal glands 28 years after mastectomy. The patient originally underwent Patey’s radical mastectomy of the left breast. In the follow-up, metastases were detected in the skin of the thorax and labia majora and were subsequently resected. During the most recent hospitalization metastases to both adrenal glands were detected (PET-CT, MRI) and removed. In genetic examination the entire coding sequences of BRCA1 and BRCA2 gene were screened for mutation by direct PCR product sequencing as described before by Gorski et al. No BRCA1 and BRCA2 gene mutations were found. Histological examination revealed breast cancer metastasis to the adrenal glands. In our opinion our case can be the latest described metastases of breast cancer. The described case was an early stage of primary cancer (T1N0M0). Patients after breast cancer resection should still be followed up for late metastases. Late metastases including atypical sites should always be suspected regardless of time from initial presentation. The correlations between mutation and metastases of breast cancer needs to be discussed.
Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to an elevated risk of colorectal cancer (CRC). We aimed to evaluate the significance of the p.Q82* truncating variant in predisposition to intestinal polyposis by assessing its frequency in polyposis patients. We genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) and Sanger sequencing. We found the p.Q82* variant in four polyposis patients; in three, it was homozygous (OR = 6.90, p value = 0.202). Moreover, the p.R92C mutation was detected in one patient. We also looked more closely at the disease course in patients carrying NTHL1 mutations. Two homozygous patients also presented other neoplasia. In the family case, we noticed the earlier presence of polyps in the proband and early hepatoblastoma in his brother. We cannot univocally confirm the relationship of p.Q82* with an increased risk of CRC. However, homozygous p.Q82* was more frequent by 10-fold in patients without other mutations identified, which makes NTHL1 gene screening in this group reasonable.
Screening of the colon cancer seems to be important to improve the results of the surgical treatment. There are different screening programs, the most common use the fecal occult blood (FOB) tests or colonoscopy.was to evaluate the results of the colon cancer screening based on the FOB test and perform the algorhytm improving the effectiveness of the screening.941 patients with the positive results of the FOB (immunochromatographic method) test were investigated. In all cases the rectosigmoidoscopy for the detection of the lower GI tract pathology was done. 312 patients were qualified to colonoscopy.Adenomatous polyps and adenocarcinomas were detected in 116 patients. There was no correlation between clinical symptoms and the colorectal cancer. The colorectal cancer was recognized statistically more common at the patients with previous detected neoplasia, in the colon and other organs, with hereditary nonpolyposis colorectal cancer and with inflammatory bowel diseases.The colorectal cancer screening based on the FOB can be effective in the early recognition of the bowel malignancy. The previous questionnaire can eliminate from the FOB screening the patients without indications (previously done colonoscopy or barium enema) or with directly indications for colonoscopy.
BACKGROUND Crohn's disease (CD) often necessitates surgical intervention, particularly when it manifests in the terminal ileum and ileocecal valve. Despite undergoing radical surgery, a subset of patients experiences recurrent inflammation at the anastomotic site, necessitating further medical attention. AIM To investigate the risk factors associated with anastomotic insufficiency following ileocecal resection in CD patients. METHODS This study enrolled 77 patients who underwent open ileocolic resection with primary stapled anastomosis. Patients were stratified into two groups: Group I comprised individuals without anastomotic insufficiency, while Group II included patients exhibiting advanced anastomotic destruction observed endoscopically or those requiring additional surgery during the follow-up period. Surgical and non-surgical factors potentially influencing anastomotic failure were evaluated in both cohorts. RESULTS Anastomotic insufficiency was detected in 12 patients (15.6%), with a mean time interval of 30 months between the initial surgery and recurrence. The predominant reasons for re-intervention included stenosis and excessive perianastomotic lesions. Factors associated with a heightened risk of anastomotic failure encompassed prolonged postoperative obstruction, anastomotic bleeding, and clinically confirmed micro-leakage. Additionally, patients in Group II exhibited preoperative malnutrition and early recurrence of symptoms related to CD. CONCLUSION Successful surgical outcomes hinge on the attainment of a fully functional anastomosis, optimal metabolic status, and clinical remission of the underlying disease. Vigilant endoscopic surveillance following primary resection facilitates the timely identification of anastomotic failure, thereby enabling noninvasive interventions.
(1) Background: Familial adenomatous polyposis (FAP) is a hereditary condition characterized by the development of numerous adenomas in the large intestine, often necessitating colectomy due to an elevated risk of colorectal cancer. Despite surgical intervention, adenomas frequently recur, underscoring the importance of ongoing surveillance. This study evaluates the outcomes of a 12-year endoscopic follow-up after colectomy and gastrointestinal reconstruction for FAP. (2) Methods: A retrospective analysis was conducted on 41 FAP patients who underwent at least one postoperative endoscopic examination. Assessments of the pouch or rectum were performed every 12–18 months following ileorectal anastomosis and every 18–24 months after ileal pouch–anal anastomosis. Follow-up biopsies were assessed using the adopted Spigelman classification. (3) Results: Postoperative pathology revealed invasive colorectal cancer in three patients. Abdominoperineal resection was performed in two cases due to secondary invasive carcinoma, and one T1 tumor was radically removed with ESD. One patient underwent radical pouch excision following a nodal pelvic recurrence of rectal cancer. Over a 12-year observation period, the mean Spigelman score increased by 2 points, and the proportion of patients with low-grade polypoid lesions decreased. The quantity or size of polyps increased in 24 patients, decreased in 8 patients, and remained stable in 9 patients. In four patients, granular, laterally spreading tumors were discovered in the rectal stump. (4) Conclusions: Regular endoscopic surveillance in FAP patients facilitates early identification of neoplastic and inflammatory changes. The downstaging potential highlights the effectiveness of early interventions. While the Spigelman classification assessed polyps well, it did not predict cancer occurrence. A notable number of patients had invasive cancer at the time of surgery, underscoring the importance of early surgical qualification, which is particularly crucial for identifying upstaging or secondary cancer.
