DNA signature and occult blood in stool led to diagnosis of an early-onset metastatic rectal cancer in a young pregnant woman: a case report.

Background: Colorectal cancer (CRC) is the third most common form of cancer worldwide in terms of incidence and the second in terms of mortality with 1.9 million new cases and 930,000 deaths reported in 2020. Corresponding numbers in the U.S. are 150,000 and 53,000, respectively. Although the majority of CRCs in the U.S. and other high-income countries are in adults aged 50 and older, there has recently been a considerable rise in early-onset CRC, so that 17,930 cases in the U.S. (12% of total cases) are diagnosed in individuals younger than age 50, representing the equivalent of 49 new cases per day. Early diagnosis is essential to improve the prognosis and reduce the number of cancer-related deaths. Here we report the case of a young pregnant woman, who was diagnosed with CRC with the help of the ColoAlert™ multitargeted stool test. Case Description: In this case study, a young pregnant woman presented with obstipation, rectal bleeding, and pelvic pain, symptoms that were ascribed to her pregnancy. On her own, she performed a multitarget stool test (ColoAlert™) that showed occult blood as well as a very high level of human DNA, both known to be associated with presence of CRC. After testing, she was referred for rectoscopy (during her 21st week of pregnancy), which showed an exophytic, semicircular tumor 10 cm from anus in the rectosigmoid junction. Histology confirmed adenocarcinoma in rectum. Further examination showed perirectal infiltration as well as metastases to both liver and adrenal gland. Conclusions: This case report shows the importance of considering CRC as a possible diagnosis in young people. It also demonstrates the usefulness of multitarget stool testing that in this case led to the endoscopic confirmation of the diagnosis followed by an immediate start of potential life-saving treatment.

DNA Marker in Stool Led to a Second High-Quality Colonoscopy Within Three Months and Removal of an Undetected High-Risk Polyp.

BACKGROUND: In this case study, the patient first had a colonoscopy based on an incidental episode of vomiting and abdominal pain. MATERIALS AND METHODS: Two months after recovery, a multitarget stool test (ColoAlert®) was performed and showed a known somatic mutation in the oncogene KRAS, reported to be associated with colorectal cancer. As a result, a second complete colonoscopy was performed at another center. RESULTS: This procedure led to the diagnosis and removal of a later classified high-risk polyp that had been missed during the initial colonoscopy. CONCLUSIONS: This case report shows the use of genetic markers in stool testing has the potential to detect colon cancer in very early stages when treatment is inexpensive and effective.

Secondary treatment and predictive factors for second-line chemotherapy after first-line oxaliplatin-based therapy in metastatic colorectal cancer.

Two consecutive studies have evaluated the efficacy of oxaliplatin combined with the Nordic bolus schedule of 5-fluorouracil and folinic acid as first-line treatment in metastatic non-resectable colorectal cancer. One hundred and twelve patients were followed after end of first-line treatment and any secondary therapy registered. Fifty-three patients (47%) did not receive second-line irinotecan-based chemotherapy. The main reason was too poor performance status (59%). These patients had a median survival of only 1.7 months after progression of first-line therapy. The best predictive factors at start of first-line chemotherapy for receiving later second-line chemotherapy were performance status and alkaline phosphatase level. Fifty-nine patients (53%) received irinotecan-based second-line therapy. Four (7%) patients had a partial response, and 28 (52%) had stable disease. Median progression-free survival after second-line chemotherapy was 4.1 months and median survival 9.5 months. Median survival after first-line chemotherapy and secondary liver surgery was 34 months and five-year disease-free survival 8%. Survival among patients receiving both first- and second-line chemotherapy was 20.8 months, but only 8.9 months in patients not receiving second-line irinotecan-based chemotherapy. Poor performance status or elevated alkaline phosphatase level at start of first-line chemotherapy predicts whether second-line chemotherapy will be given or not.

Stool DNA analysis detects premorphological colorectal neoplasia: a case report.

We found, in an asymptomatic patient with familial occurrence of malignancy, that mutations in the oncogene Kras could be detected in stool 18 months before a premalignant polyp was detected and removed endoscopically. Colorectal cancers usually develop from benign adenomas in a lengthy period of 5-10 years. During this period, several major biochemical pathways are involved, each characterized by one or several genetic alterations. Our patient did not present any signs or symptoms of colorectal disease during his two visits to the endoscopist. This case report shows that the use of genetic markers in stool testing has the potential to detect colon cancer in its very early stages when treatment is simple and often successful.

Multicenter phase II study of Nordic fluorouracil and folinic acid bolus schedule combined with oxaliplatin as first-line treatment of metastatic colorectal cancer.

PURPOSE: This Nordic multicenter phase II study evaluated the efficacy and safety of oxaliplatin combined with the Nordic bolus schedule of fluorouracil (FU) and folinic acid (FA) as first-line treatment in metastatic colorectal cancer. PATIENTS AND METHODS: Eighty-five patients were treated with oxaliplatin 85 mg/m(2) as a 2-hour infusion on day 1, followed by a 3-minute bolus injection with FU 500 mg/m(2) and, 30 minutes later, by a bolus injection with FA 60 mg/m(2) every second week. The same doses of FU and FA were also given on day 2. RESULTS: Fifty-one of 82 assessable patients achieved a complete (n = 4) or partial (n = 47) response, leading to a response rate of 62% (95% CI, 52% to 72%). Nineteen patients showed stable disease, and 12 patients had progressive disease. Thirty-eight of the 51 responses were radiologically confirmed 8 weeks later (confirmed response rate, 46%; 95% CI, 36% to 58%). The estimated median time to progression was 7.0 months (95% CI, 6.3 to 7.7 months), and the median overall survival was 16.1 months (95% CI, 12.7 to 19.6 months) in the intent-to-treat population. Neutropenia was the main adverse event, with grade 3 to 4 toxicity in 58% of patients. Febrile neutropenia developed in seven patients. Nonhematologic toxicity consisted mainly of neuropathy (grade 3 in 11 patients and grade 2 in another 27 patients). CONCLUSION: Oxaliplatin combined with the bolus Nordic schedule of FU+FA (Nordic FLOX) is a well-tolerated, effective, and feasible bolus schedule as first-line treatment of metastatic colorectal cancer that yields comparable results compared with more complex schedules.