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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.