Hereditary Nonpolyposis Colorectal cancer(HNPCC) -C743-
1. Á¤ÀÇ
»ó¿°»öü ¿ì¼ºÀÇ À¯Àü¹æ½ÄÀ¸·Î À¯ÀüµÇ¾î hereditary colon cancer¸¦ ÀÏÀ¸Å°´Â
´ëÀå¿ëÁ¾ÁúȯÀÌ´Ù.
2. ¿øÀÎ
* DNA nucleotide mismatch repair gene(hMLH, hMSH2, PMS, PMS2, GTBP)
ÀÇ germ line mutation¿¡ ÀÇÇØ ¹ß»ý
* AD pattern
3. Áø´Ü
* 3¸íÀÌ»óÀÇ °¡Á·±¸¼º¿øÀ¸·Î, ±×Áß 2¸íÀº 1Ã̰ü°è, Àû¾îµµ 2¼¼´ë¿¡ °ÉÃļ Á¸ÀçÇϸç
ÇѸíÀº 50¼¼ ÀÌÀü¿¡ Áø´ÜµÇ¾î¾ß ÇÑ´Ù.
* diffuse adenomatosis´Â ¾ø´Ù.
* Æò±Õ 40´ë Á߹ݿ¡ ¹ß»ý
4. ÀÓ»óÀû Ư¡
* multiple synchronous cancer(´ëºÎºÐ proximal to splenic flexure¿¡ ¹ß»ý)
* ovary, uterus, ureter, pancreas, stomach : high risk
* genetic test°¡ À¯¿ë
5. ÃßÀû°üÂû
* positive genetic test or genetic test¸¦ ½ÃÇàÇÏÁö ¸øÇßÀ» ¶§
colonoscopy¸¦ ¸Å 6°³¿ù¸¶´Ù(21-40¼¼) ±×ÈÄ¿£ ¸Å³â
¹«Áõ»óÀÇ ¿©¼ºÀº 18¼¼ºÎÅÍ pelvic examÀ» ¸Å 1-2³â¸¶´Ù
25¼¼ºÎÅÍ ¸Å³â pelvic exam & transvaginal USG
endometrial Bx°¡ ÇÊ¿äÇÒ¼öµµ ÀÖ´Ù.
** Bockus p1750
early onset, polyp 10°³ ¹Ì¸¸, tubular adenoma, Rt side¿¡ ÁÖ·Î ¹ß»ý
endometrial caµî µ¿¹Ý
1) Site-specific colon cancer(Lynch syndrome I)
young age¿¡ Áø´ÜµÇ¸ç proximal location
multiple colonic primary tumor
2) Cancer family syndrome(Lynch syndrome II)
AD, early onset colon cancer with proximal predominance
synchronous or metachronous colon cancer
endometrium, ovary cancer