van Helden Josef, Eidens Moritz, Fuhrländer Jürgen, Weiskirchen Ralf, Øgreid Dagfinn
Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH Aachen University Hospital, Aachen, Germany.
Mainz Biomed Germany GmbH, Mainz, Germany.
J Gastrointest Oncol. 2024 Aug 31;15(4):1957-1961. doi: 10.21037/jgo-24-136. Epub 2024 Jul 15.
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.
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.
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.
结直肠癌（CRC）在全球范围内，按发病率计算是第三大常见癌症形式，按死亡率计算是第二大常见癌症形式，2020年报告有190万新发病例和93万例死亡。美国相应的数字分别为15万和5.3万。尽管美国和其他高收入国家的大多数结直肠癌病例发生在50岁及以上的成年人中，但近年来早发性结直肠癌有显著上升，因此美国有17930例病例（占总病例的12%）在50岁以下的个体中被诊断出来，相当于每天有49例新病例。早期诊断对于改善预后和减少癌症相关死亡人数至关重要。在此，我们报告一例年轻孕妇的病例，她借助ColoAlert™多靶点粪便检测被诊断为结直肠癌。
在本病例研究中，一名年轻孕妇出现便秘、直肠出血和盆腔疼痛等症状，这些症状被归因于她的怀孕。她自行进行了一项多靶点粪便检测（ColoAlert™），结果显示潜血以及非常高的人类DNA水平，这两者都已知与结直肠癌的存在有关。检测后，她被转诊进行直肠镜检查（在她怀孕第21周时），检查显示在直肠乙状结肠交界处距肛门10厘米处有一个外生性半圆形肿瘤。组织学证实为直肠腺癌。进一步检查显示直肠周围浸润以及肝和肾上腺转移。
本病例报告表明，将结直肠癌视为年轻人可能的诊断的重要性。它还证明了多靶点粪便检测的有用性，在本病例中，该检测导致通过内镜确认诊断，随后立即开始可能挽救生命的治疗。
