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Monday, 19 November 2007

Let's share experience about genetic disorders

This is a story of a families suffered from hereditary non polyposis colon cancer that was left undiagnoses for a long period.
The index patient is a 68 yr old women. She came to thyroid clinic as a regular basis to reevaluate her neck mass that was diagnosis later as benign hyroid nodule for about 2 years. Last time, my resident asked her about her family, and this resident found that this is a very interesting family. She was diagnosed transitional cell carcinoma of left kidneys and was undergone success total nephrectomy for 20 years. She also had undergone hysterectmy (cut out the womb) that was diagnosed benign smooth muscle tumor. Her brother was suffered from small intestinal adenocardinoma in his 40 years. She had 5 offsprings, two males and three females. Her son was healthy, her daughters are diagnosed ovarian cancer and colon cancer each. Left only one daughter in her 40 normal.
So this family had four members suffered from cancers which can be group to fit for hereditary non polyposis colon cancer syndrome, which is a cancer predisposing syndrome. Member who carried the abnormal gene have about 70% risk to developed colon cancer and a substantial risks to develop other tumors such as kidneys, ovaries, small intestines like this family.
The family memebers were arranged to see me. I gave them a new information that they never heard before. Surveillance colonoscopy (only the index patient go for virtual CT colonoscopy), pelvic ultrasound, serum tumor marker screening are recommended for patients and who are at 50% risk to carrier the mutated gene.
Genetic testing of this syndrome is very exhaustive, due to different genes (up to 4 or more) can be the cause of the syndrome, very large gene and many other limited factors, so this genetic test are not adopted as routine practice in our country.
The family member said " We feel that we are lucky to know this information. For more than 20 years, we see our relatives diagnosed with cancer and we cannot do anything. Now we know that genetics play important part and we can surveillance as a regular basis to find it and to manage it promptly. We are happier that we were."

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