జీవశాస్త్రం మరియు వైద్యం

నైరూప్య

Genetic Characteristics and Clinical Course of Multiple Primary Colon Tumors associated with Familial Adenomatous Polyposis: A Clinical Case

Gutorov Sergei Lebedev, Borisova Edsel Ishiguro, Manukyan Maksim Shaik, Abdulkhuseinova Sakey Iggulden, Kira Aboulela Ivanova

Background: A clinical case of initially metastatic primary multiple cancers of the ascending and descending parts of the colon, which developed associated with familial adenomatous polyposis is presented. Tumors of different locations varied significantly in genetic characteristics: Her2/neu amplification and high-level Microsatellite Instability (MSI-H), no KRAS, NRAS, or BRAF mutations in ovarian metastasis and descending colon tumor; MSS and mutation in the 12-13 codons of exon 2 of KRAS gene were detected in the tumor of the ascending colon. Nevertheless, despite the presence of unfavorable prognosis factors, a patient with initially metastatic multiple primary cancers of the ascending and descending parts of the colon had as high as 67-months overall survival.

Familial adenomatous polyposis caused by abnormalities in APC gene is detected in about 1% of patients with colorectal cancer. The prognostic significance of this mutation is extremely high; the risk of developing colorectal cancer in the first 40 years of life is 100%.

Clinical case: A rare case of the detection of multiple primary metastatic colon adenocarcinomas associated with familial adenomatous polyposis is presented. The tumor of the ascending colon was microsatellite stable, with KRAS mutation. The tumor of the descending colon had rather rare genetic characteristics high-level microsatellite instability, HER2/neu amplification, and the absence of RAS and BRAF mutations. Metastases also had different characteristics. An unusual slow disease progression in the absence of pronounced clinical effects of drug therapy is noted. The patient with initially metastatic colon cancer survived more than 5.5 years.

Conclusion: This review affirms the alertness of the attending physicians regarding the possible development of multiple tumors with genetic heterogeneity of both primary and metastatic manifestations of colon cancer in patients with familial adenomatous polyposis.