Clinical diagnosis
Case 166
【Progress】
He refused to receive ultrasound examination to check liver space occupying lesion. Then, under sedation with medicine, abdomen MRI was conducted, revealing no evidence of liver metastasis. He was scheduled to take surgery not long before.
【Discussion】
The incidence of colon cancer is getting increased in Japan. We encounter the other cancer rather than recurrence or metastatic tumors during the follow-up study after surgical colon cancer resection. Lynch syndrome is known as a hereditary disease in the state of multiple cancer occurrence including colon cancer (1-3). The etiology of Lynch syndrome is considered that the reparative process from DNA injury is lacking due to genetic faults leading to cancer genesis. Lynch syndrome is defined as follows (1-5); colon-rectal cancer, the younger age less than 50; autosomal dominant inheritance; a family history of colon cancer that occurs at a comparatively young age; a family history of uterus endometrial cancer; a family history of other cancers such as ovarian cancer, renal cancer, ureteral cancer, stomach cancer, small intestine cancer, liver cancer, sweat gland cancer (sebaceous carcinoma) and others. The term of Lynch syndrome was once changed into non-polyposis hereditary colon cancer (4). But it is possible that this hereditary disease can cause two or more cancers rather than colon cancer in a patient. Then, the name of Lynch syndrome came to be revived instead of that of non-polyposis hereditary colon cancer (5).
In fact, a lot of colon cancer is usually sporadic and Lynch syndrome is found in 3 to 5% of all colon-rectal cancers and 2 to 3% of all uterine endometrial cancers (6, 7). Further, it is reported that life time risk of the patients with Lynch syndrome is colon cancer in 20 to 80%, stomach cancer 1 to 13 %, urinary tract cancer 1 to 18%, small bowel cancer 1 to 6%, pancreas cancer 1 to 6%, liver/bile duct cancer 1 to 6% and brain tumor 1 to 3% (7).
Our patient experienced rectal cancer at the age of 42 and duodenal cancer at the age of 49. Two of his father-sided third degree family members experienced colon cancer, his mother-sided grandfather experienced ureter cancer, his mother-sided grandmother did skin cancer, two of his mother-sided third degree relatives did stomach cancer. Although gene examination was to be yet, the family history and the occurrence of rectal cancer and duodenal cancer before 50 were compatible to Lynch syndrome.
【Summary】
We present a forty nine-year-old male suffering from vomiting once a day. Abdomen CT three months before showed dilatated duodenal end with dietary content and abdomen CT this time showed thickened duodenal wall with different type dietary content. Gastroduodenal endoscopic examination revealed duodenal cancer. He had received artificial anus formation for rectal cancer seven years ago. His family history clarified that his relatives within three degrees both from father-sided and mother sided had fallen cancers: colon cancer, gastric cancer, skin cancer and ureteral cancer. These findings were not contradictory that he was a member of cancer family termed Lynch syndrome. Although colon cancer is generally sporadic, 3 to 5 % of all colon cancers belonged to Lynch syndrome. It is borne in mind that at the time of imaging interpretation of the follow up study after colon cancer management, we need to check the emergence of other cancers occur as well as metastasis and recurrence from the original cancer.
【References】
1.Peltomaki P. Lynch syndrome genes. Fam Cancer. 2005;4:227–232.
2.de la Chapelle A. The incidence of Lynch syndrome. Fam Cancer. 2005;4:233–237.
3.Cantor D：The Frustrations of Families：Henry Lynch，heredity, and cancer control, 1962－1975. Med Hist 50：279－302，2006
4.Vasen HF, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999 Jun;116:1453-6.
5.Vasen HF, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44:353–362.
6.Hampel H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005;129:415–421
7.Ten Broeke SW, et al. Cancer Risks for PMS2-Associated Lynch Syndrome. J Clin Oncol. 2018 ;36:2961-2968.
2019.10.16