Peutz-Jeghers syndrome
* melanotic spot + multiple hemartomatous polyp(Àü GI tract)
* ÁÖ·Î AD, ±×¿Ü ¿©·¯¹ßÇö¾ç½Ä
* chr 19pÀÇ novel serine-threonine gene(STK II)ÀÇ mutationÀÌ ¿øÀÎ
* intestinal malgnancy(ÁÖ·Î small intestine)ÀÌ º¸°íµÇ°í ÀÖ´Ù.
* other manifestation
: ovarian sex cord stromal tumor
GB, ureter nosal polyp
Turcot 's syndrome
* AD or AR
* hereditary adenomatous polyposis(20-300°³) + CNS tumor
* APC gene, nucleotide mismatch repair geneÀÇ abnormality
Juvenile polyposis
* AD
* SMAD(=DPC4) geneÀÇ germ line mutation
* hamartoma : ÇüÅÂÀûÀ¸·Î Peutz-Jeghers syndromeÀÇ hamartoma¿Í´Â ¸ð¾çÀÌ ´Ù¸£´Ù.
* malignancy risk : GI carcinoma°¡ 10%º¸°í
==> severly dysplastic adenomaÀÖÀ» ¶§ subtotal colectomy°¡ ÃßõµÊ.
Cronkhite-Canada syndrome
* diffuse GI polyposis(stomach, colon), alopecia, fingernail dystrophy, cutaneous
hyperpigmentation
* carcinoma : 14%±îÁö º¸°í
Cowen's syndrome(= Multiple hamartoma syndrome)
* AD
* multiple facial tricholemmoma, oral papilloma, hand, feet keratosis,
associated systemic malignancy(thyroid, breast)
* polyp : not dysplastic
* GI malignancy risk°¡ Áõ°¡ÇÏÁö´Â ¾Ê´Â´Ù.