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. 2010 Mar;44(1):57-61.
doi: 10.2478/v10019-010-0005-0. Epub 2010 Mar 18.

Genetic testing for young-onset colorectal cancer: case report and evidence-based clinical guidelines

Yaolin Zhou  1 , Lisa A Boardman, Robert C Miller
Affiliations

Genetic testing for young-onset colorectal cancer: case report and evidence-based clinical guidelines

Yaolin Zhou et al. Radiol Oncol. 2010 Mar.

Abstract

Background: Young-onset colorectal cancer is clinicopathologically different from older-onset colorectal cancer and tends to occur in patients with hereditary germline conditions such as Lynch syndrome and familial adenomatous polyposis.

Case report: We describe the case of a 44-year-old man with a paternal history of colon polyps, a personal 2-year history of hematochezia, and a diagnosis of rectal cancer. Further clinical evaluation of the patient at our institution determined the cancer to be stage IIIA. The patient underwent genetic counseling and testing, which indicated he was negative for the most common familial cancer syndromes. After treatment with neoadjuvant chemoradiotherapy, surgery, and adjuvant chemotherapy, the patient has done well. We review the hereditary cancer syndromes and genetic tests to consider for patients with early-onset colorectal cancer.

Conclusions: This case underscores the importance of following cancer-screening guidelines.

Keywords: MYH-associated polyposis; adenomatous polyposis coli; attenuated familial adenomatous polyposis; colorectal cancer; familial adenomatous polyposis; microsatellite instability.

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Figures

FIGURE 1
FIGURE 1
Scheme describing the recommended initial evaluation of a patient aged 50 years or younger with a diagnosis of colorectal cancer (CRC). AFAP indicates attenuated familial adenomatous polyposis; FAP, familial adenomatous polyposis; IHC, immunohistochemistry; JPS, juvenile polyposis syndrome; MAP, MYH-associated adenomatous polyposis; MSI, microsatellite instability; PJS, Peutz-Jeghers syndrome.
FIGURE 2
FIGURE 2
Scheme describing the recommended genetic testing for a patient with a diagnosis of colorectal cancer. AFAP indicates attenuated familial adenomatous polyposis; APC, adenomatous polyposis coli; BRAF, v-raf murine sarcoma viral oncogene homolog B1; FAP, familial adenomatous polyposis; IHC, immunohistochemistry; MAP, MYH-associated adenomatous polyposis; MLH1, MutL homolog 1; MMR, mismatch repair; MSI, microsatellite instability; MYH, MutY homolog.
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