Previous / Next


[Cowden's disease (2)]

¾îÁ¦ Áõ·ÊÀÇ °è¼ÓÀÔ´Ï´Ù. PTEN À¯ÀüÀÚÀÇ µ¹¿¬º¯ÀÌ°¡ ¹ß°ßµÇ¾ú½À´Ï´Ù. PTEN À¯ÀüÀÚ 5¹ø° exon¿¡¼­ 395¹ø° ¿°±â¼­¿­ÀÌ G¿¡¼­ A·Î ġȯµÊ¿¡ µû¶ó 129¹ø° ¾Æ¹Ì³ë»êÀÌ Gly¿¡¼­ ArgÀ¸·Î ¹Ù²î´Â missense variationÀÌ ¹ß°ßµÈ °ÍÀÔ´Ï´Ù.

ÀÌ È¯ÀÚÀÇ ´ëÀå³»½Ã°æ¿¡¼­ ¸Å¿ì ¸¹Àº ¿ëÁ¾ÀÌ ¹ß°ßµÇ¾ú½À´Ï´Ù. Á¶Á÷°Ë»ç´Â inflammatory fibrinoid polypÀ¸·Î º¸°íµÇ¾ú½À´Ï´Ù. À§¿Í ´Þ¸® ´ëÀå ¿ëÁ¾µéÀº Å©±â Â÷ÀÌ°¡ ½ÉÇߴµ¥ ÀÌ Á¡ÀÌ ÀϹÝÀûÀÎ ¼Ò°ßÀÎÁö ¾Æ´Ï¸é ÀÌ È¯ÀÚÀÇ Æ¯º°ÇÑ ¼Ò°ßÀÎÁö Àúµµ Àß ¸ð¸¨´Ï´Ù.


[References]

1) EndoTODAY Cowden syndrome

© ÀÏ¿ø³»½Ã°æ±³½Ç ¹Ù¸¥³»½Ã°æ¿¬±¸¼Ò ÀÌÁØÇà. EndoTODAY Endoscopy Learning Center. Lee Jun Haeng.