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[Familial adenomatous polyposis (FAP) °¡Á·¼º ¼±Á¾¼º ¿ëÁ¾Áõ] - ðû

1. Introductory case - À§³»½Ã°æ ¼Ò°ßÀ¸·Î FAP¸¦ ÀǽÉÇÏ¿´´ø ȯÀÚ

2. °¡Á·¼º ¼±Á¾¼º ¿ëÁ¾ÁõÀ̶õ?

3. Genetics

4. Attenuated FAP

5. Ampullary adenoma À¯µÎºÎ ¼±Á¾

6. Overview of the upper GI tract lesions »óºÎÀ§Àå°ü Áúȯ

7. Non-ampullary duodenal adenoma ºñÀ¯µÎºÎ ½ÊÀÌÁöÀå ¼±Á¾

8. Fundic gland polyposis À§Àú¼± ¿ëÁ¾Áõ

9. Gastric adenoma À§¼±Á¾

10. Gastric cancer À§¾Ï

11. Extracolonic manifestations and related conditions - °©»ó¼±¾Ï ¶§¹®¿¡ FAP¸¦ ¹ß°ß

12. Screening policy

13. Treatment - Pouch

14. FAP ȯÀÚ°¡ total colectomy¸¦ °ÅºÎÇÑ´Ù¸é?

15. FAQ

16. References


1. Introductory case

40´ë ÈÄ¹Ý ³²¼ºÀÔ´Ï´Ù. ¿ì¿¬È÷ ½ÃÇàÇÑ »óºÎ³»½Ã°æ¿¡¼­ ´Ù¹ß¼º À§ ¼±Á¾°ú ½ÊÀÌÁöÀå ¼±Á¾ÀÌ ¹ß°ßµÇ¾î ÀǷڵǾú½À´Ï´Ù.

FAP °¡´É¼º °í·ÁÇÏ¿© ´ëÀå³»½Ã°æÀ» ½ÃÇàÇÏ¿´½À´Ï´Ù. À§ ¼±Á¾°ú ½ÊÀÌÁöÀå ¼±Á¾Àº ³»½Ã°æÄ¡·á¸¦ ÇÏ¿´½À´Ï´Ù.


- ¼Ò°ß: Cecum°ú IC valve¿¡ ¼ö°³ÀÇ ¿ëÁ¾ÀÌ ÀÖ¾úÀ½. »óÇà°áÀåºÎÅÍ ÇÏÇà°áÀå±îÁö´Â ºñ±³Àû Á¤»ó Á¡¸· ÀÇ ¼Ò°ßÀ» º¸ÀÓ. AV 20cmºÎÅÍ Åõ¸íÇÑ º´º¯ÀÌ ¼ö½Ê°³ °üÂûµÇ¾úÀ¸¸ç(NBI¿¡¼­´Â µµµå¶óÁ® º¸ÀÓ ), AV 10cmÀÌÇϷδ ¼ö½Ê°³ÀÇ ¿ëÁ¾ÀÌ °üÂûµÇ¾úÀ½.
- ³»½Ã°æ Áø´Ü: r/o attenuated FAP
- Âü°í: AV 20cm À§ÂÊÀ¸·Î´Â ´«¿¡ º¸ÀÌ´Â ¿ëÁ¾Àº ¸ðµÎ Á¦°Å ÇÏ¿´½À´Ï´Ù. AV 20cm ÀÌÇϺÎÀ§´Â º´º¯ÀÇ °¹¼ö°¡ ³Ê¹« ¸¹¾Æ Á¦°Å°¡ ºÒ°¡´É ÇÏ¿´½À´Ï´Ù. Anus Á÷»ó¹æÀÇ LST´Â Ç×¹®ÀÇ Á¤¸ÆÃÑ°ú ³Ê¹« °¡±îÀÌ ÀÖ¾î, Á¶Á÷°Ë»ç È®ÀÎ ÈÄ Ä¡·á¿©ºÎ¸¦ °áÁ¤ÇÏ¸é µÇ°Ú½À´Ï´Ù.

FAP °¡´É¼º °í·ÁÇÏ¿© À¯ÀüÀÚ °Ë»ç¸¦ ½ÃÇàÇÏ¿© germline mutationÀÌ ¹ß°ßµÇ¾ú½À´Ï´Ù. º¹°­°æ ´ëÀåÀýÁ¦¼úÀ» ½ÃÇàÇÏ¿´½À´Ï´Ù.


- Tubular adenomas, multiple (about 200)
- Traditional serrated adenoma and tubular adenoma in vermiform appendix
- Consistent with familial adenomatous polyposis, probably attenuated form

°¡Á·µé À¯ÀüÀÚ °Ë»ç¸¦ ½ÃÇàÇÏ¿© ¾Æµå´Ô¿¡¼­µµ µ¿ÀÏ germline mutationÀÌ ¹ß°ßµÇ¾î ¼ö¼úÀ» ±ÇÇß½À´Ï´Ù.


¶Ç ´Ù¸¥ ȯÀÚÀÇ ´ëÀå³»½Ã°æ°ú ¼ö¼ú ¼Ò°ßÀÔ´Ï´Ù. ¿ëÁ¾ÀÌ µÇÁö ¾ÊÀº Á¡¸·¿¡¼­µµ ¼±Á¾¼º º¯È­°¡ ÀÖÀ½À» ¾Ë ¼ö ÀÖ½À´Ï´Ù.


2. °¡Á·¼º ¼±Á¾¼º ¿ëÁ¾Áõ (familial adenomatous polyposis, FAP)À̶õ?

FAP´Â Àüü ´ëÀå¾ÏÀÇ 1% ¹Ì¸¸À» Â÷ÁöÇÏ°í ÀÖÀ¸³ª À¯ÀüÀû Ư¼ºÀÌ Àß ¾Ë·ÁÁø ¸Å¿ì Áß¿äÇÑ ÁúȯÀÔ´Ï´Ù. FAP ȯÀÚ´Â ´ëºÎºÐ ¿À·£ ±â°£ ¹«Áõ»óÀ¸·Î Áö³»´Âµ¥, ¿ëÁ¾ÀÌ ¸¹¾ÆÁö°í Ä¿Áö¸é¼­ º¯ºñ, ¼³»ç, º¹Åë, üÁß°¨¼Ò, ºóÇ÷, ÃâÇ÷ µîÀÌ ³ªÅ¸³¯ ¼ö ÀÖ½À´Ï´Ù. ´Ù¹ß¼º ¿ëÁ¾ÀÌ ³ªÅ¸³­ ȯÀÚ¿¡¼­ ´ëºÎºÐ 10-20³â À̳»¿¡ ¾ÏÀÌ ¹ß»ýµÇ¹Ç·Î ¾ÏÀ» µ¿¹ÝÇÏÁö ¾ÊÀº ´Ù¹ß¼º ¿ëÁ¾ ´Ü°è¿¡¼­ Á¶±â¿¡ ¹ß°ßÇÏ¿© ´ëÀå ÀüÀýÁ¦¼ú·Î Ä¡·áÇÏ´Â °ÍÀÌ ÃÖ¼±ÀÔ´Ï´Ù.


FAP with rectosigmoid cancer


FAP with sigmoid cancer

ÃÖ±Ù ¿ì¸®³ª¶ó¿¡¼­ °ú°Å¿¡ ºñÇÏ¿© FAP ȯÀÚµéÀÌ ÀÚÁÖ ¹ß°ßµÇ°í ÀÖ½À´Ï´Ù. ÀÌ È¯Àڵ鿡 ´ëÇÑ Àû±ØÀûÀÎ Ä¡·á·Î »ýÁ¸À²µµ Å©°Ô Çâ»óµÇ¾ú½À´Ï´Ù. ±×·¯³ª ¾ÆÁ÷ ÀϹÝÀα¸º¸´Ù ±â´ë¿©¸íÀÌ ³·Àº »óÅÂÀε¥ ÀÌ·¯ÇÑ ÀÌÀ¯ Áß Çϳª´Â ´ëÀå ÀüÀýÁ¦¼ú ÈÄ »óºÎÀ§Àå°ü ¾Ï ¹ß»ý·üÀÌ ³ô±â ¶§¹®ÀÔ´Ï´Ù. FAP ȯÀÚÀÇ 90%À̻󿡼­ »óºÎÀ§Àå°ü ¼±Á¾ÀÌ ¹ß»ýÇÏ¸ç »ó´ç¼ö°¡ ¾ÏÀ¸·Î ÁøÇàÇÏ´Â °Í °°½À´Ï´Ù. FAP ȯÀÚ¿¡¼­ ´ëÀå¾Ï ´ÙÀ½À¸·Î ÈçÇÑ ¾ÏÁ¾ÀÌ À¯µÎ¾Ï(ampullary cancer)À» Æ÷ÇÔÇÑ ½ÊÀÌÁöÀå¾ÏÀÔ´Ï´Ù. ¼­±¸¿¡¼­ ´ëÀå ÀüÀýÁ¦¼úÀ» ¹ÞÀº FAP ȯÀÚÀÇ 10-15%´Â À¯µÎ¾ÏÀ̳ª ½ÊÀÌÁöÀå¾ÏÀ¸·Î »ç¸ÁÇÕ´Ï´Ù. ¿ì¸®³ª¶ó´Â À§¾ÏÀÇ È£¹ßÁö¿ªÀ¸·Î FAP ȯÀÚ¿¡¼­ À§¼±Á¾À̳ª À§¾ÏÀÌ Á¾Á¾ ¹ß°ßµÇ°í ÀÖ´Ù.


Familial adenomatous polyposis (FAP) syndrome is a complex entity, which includes FAP, attenuated FAP, and MUTYH-associated polyposis. (GIE 2020)

The MUTYH gene is a DNA base excision repair gene that repairs DNA injury from oxidative stress. MAP, first described in 2002, is an autosomal recessive condition associated with an increased risk of CRC development. MUTYH-associated polyposis is an autosomal recessive polyposis syndrome caused by biallelic pathogenic germline variants in the MUTYH gene. MUTYH is a base excision repair gene whose protein repairs oxidative damage to the DNA. Oxidation of guanine leads to the formation of 8-oxo-6, 7, 8-dihydroxy-2 deoxyguanosine. Failure of base excision repair results in mispairing of this nucleotide with adenine and resultant somatic CG?AT transversions in multiple genes, including the APC and KRAS genes. The target genes that are mutated as a consequence of oxidative damage strongly influence the polyposis phenotype. The two most common MUTYH gene pathogenic variants in Western Europeans and North Americans are Y179C and G396D. However, pathogenic variants at different loci have been reported in other populations. Patients with MUTYH-associated polyposis may be homozygous or compound heterozygous for these or other pathogenic variants in the MUTYH gene.

Biallelic MUTYH pathogenic mutations lead to the development of multiple colorectal adenomas, usually <100 in a patient¡¯s lifetime. The colonic polyposis phenotype is similar to AFAP with possible rectal sparing and a right-sided colon predominance. A higher prevalence of serrated adenomas has also been observed in patients with MAP.

Ggenetic testing for mutations in MUTYH should be considered in those with (1) 20 or more colorectal adenomas over multiple colonoscopies, (2) a known family history of MAP, (3) 10 or more adenomas found on a single colonoscopy, or (4) criteria for serrated polyposis syndrome with at least some adenomas noted on examination.


3. Genetics of FAP

1) Germline mutations of the APC gene on chr 5q21

2) APC gene : tumor suppressor or ¡°gatekeeping¡± gene

3) 15 exons, 2843 amino acid, 309K daltons

4) Important in cell adhesion, signal transduction, and transcriptional activation

5) Downstream targets : Beta-catenin and c-myc

6) More than 300 different mutations

7) Most are insertions, deletions, and nonsense mutations that lead to frame shifts or premature stop codons, resulting in truncation of the APC gene product

8) The most common mutation is a deletion of AAAAG in codon 1309

APC À¯ÀüÀÚÀÇ ±¸Á¶

APC À¯ÀüÀÚÀÇ ±â´É

APC À¯ÀüÀÚÀÇ ±¸Á¶

Genotype-phenotype correlation


4. Attenuated FAP


5. À¯µÎºÎ ¼±Á¾. Ampullary adenoma

À¯µÎ¼±Á¾Àº FAP ȯÀÚ¿¡¼­ Á¾Á¾ ¹ß»ýÇÏ¸ç ¾ÏÀ¸·ÎÀÇ ¹ß»ýÀ§ÇèÀ» °¡Áö°í ÀÖÀ¸¸ç, FAP ȯÀÚÀÇ ÁÖ¿ä »ç¸Á ¿øÀÎÀÔ´Ï´Ù. ÀϹÝÀα¸¿¡ ºñÇÏ¿© À¯µÎ¾Ï ¹ß»ý·üÀÌ 200~300¹è ³ô½À´Ï´Ù. ÀÏ»ý µ¿¾È ¾Ï¹ß»ýÀ§ÇèÀÌ 5~12%À̹ǷÎ, ÀÏ´Ü ¹ß°ßµÇ¸é ³»½Ã°æ À¯µÎÀýÁ¦¼úÀ» ½ÃÇàÇÕ´Ï´Ù.


6. Upper GI tract lesions. »óºÎÀ§Àå°ü Áúȯ

2011³â ¼­¿ï´ëº´¿ø¿¡¼­ 148¸íÀÇ FAP ȯÀÚÀÇ À§³»½Ã°æ¿¡¼­ À§¼±Á¾ÀÌ 14.2%, ½ÊÀÌÁöÀå ¼±Á¾ÀÌ 15.5%¶ó°í ¹ßÇ¥ÇÑ ¹Ù ÀÖ½À´Ï´Ù. (Gut Liver 2011). 2019³â ³»½Ã°æÇÐȸ¿¡¼­ ¾Æ»êº´¿ø°ú À̴뺴¿ø ÆÀÀÌ ¾Æ·¡¿Í °°Àº ÈǸ¢ÇÑ ÃÊ·ÏÀ» ¹ßÇ¥ÇÏ¿´½À´Ï´Ù. Áø·á¿¡ Å©°Ô µµ¿òµÉ °Í °°½À´Ï´Ù. Ä¡·áÇÏÁö ¾Ê°í °æ°ú°üÂûÇÏ´Â À§¼±Á¾°ú ½ÊÀÌÁöÀå ¼±Á¾ÀÌ ¾ÆÁÖ ¸¹´Ù´Â °ÍÀ» ¾Ë ¼ö ÀÖ½À´Ï´Ù.

Upper gastrointestinal neoplasm in Familial Adenomatous Polyposis: a single-center, retrospective study

Introduction: Although the upper gastrointestinal (GI) neoplasms are not rare in patients with familial adenomatous polyposis (FAP), only few studies have focused on the upper GI lesions, especially in Asians. Therefore, we tried to investigate the frequency and clinical outcomes of upper GI tumor in FAP patients. Patients and Methods: Among the patients who were diagnosed as FAP between December 2005 and December 2017, those who underwent esophagoagastroduodenoscopy (EGD) were eligible. The clinical features and treatment outcomes of upper GI neoplasms were retrospectively investigated and analyzed. Results: Among a total of 230 patients with FAP, 218 patients underwent EGD and the upper GI neoplasms were detected in 168 (77.1%) patients as follows: fundic gland polyp in 132 patients (78.6%), gastric adenoma in 37 (22.0%), gastric cancer in 8 (4.8%), and duodenal adenoma in 134 (79.8%). The patients with gastric cancer performed endoscopic submucosal dissection (ESD) in 62.5% and gastrectomy in 37.5%. In 1 patients, EGC was recurred 71 months after ESD and received additional ESD. Gastric adenoma was treated by ESD in 32.4%, endoscopic mucosal resection (EMR) in 13.5%, argon plasma coagulation (APC) in 8.1%, band ligation in 2.7%, and no treatment in 43.2%. In duodenal adenoma, EMR was done in 32.1%, APC in 17.9%, polypectomy in 0.7%, band ligation in 0.7%, and no treatment in 48.5%. There were no patients who underwent surgery for gastric adenoma and duodenal adenoma. Conclusion: On the basis of these results, endoscopic surveillance in FAP patients is important for the early detection of neoplasm and avoiding invasive surgery.

[°æ°ú°üÂû ÁßÀÎ Áõ·Ê]

´ëÀå¼ö¼ú ÈÄ À§°íµµ¼±Á¾À¸·Î EMRÀ» ¹ÞÀ¸½Å ºÐÀε¥ ÃßÀû°Ë»ç¿¡¼­ ´Ù¹ß¼º flat adenoma°¡ À§¿Í ½ÊÀÌÁöÀå¿¡¼­ ¹ß°ßµÇ¾úÀ½. ȯÀÚ¿Í »óÀÇÇÏ¿´°í 1³â ÈÄ ÃßÀû³»½Ã°æ ¿¹¾àÇÔ (2018. ³²62¼¼)


[American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes (GIE 2020)]

Recommendations (stomach). The optimal strategies for surveillance and endoscopic management of patients with FAP (including AFAP and MAP) are unknown, with various recommendations issued by polyposis registries around the world. During screening and surveillance endoscopy, we recommend careful evaluation of polyps including FGPs with random biopsy sampling and complete resection of polyps >1 cm for the evaluation of indolent dysplasia and malignant transformation, particularly in the setting of diffuse gastric polyposis and large gastric mounds. All antral polyps should be endoscopically removed, given the high probability of adenoma. Surgery should be reserved for patients with FGP and adenomas harboring advanced histologic features who fail endoscopic management.

ÀÌÁØÇà ñÉ (2020-5-9): À§³»½Ã°æÀ» ÀÚÁÖ ½ÃÇàÇÏ´Â ¿ì¸®³ª¶ó¿¡¼­´Â ASGE guideline 2020¿¡¼­ ¾ð±ÞÇÑ ¹Ù¿Í °°ÀÌ random biopsy¸¦ ½ÃÇàÇϰųª 1cm ÀÌ»óÀÇ fundic gland polypÀ» ¸ðµÎ Á¦°ÅÇÏ´Â °ÍÀº ºÒÇÊ¿äÇÒ °Í °°½À´Ï´Ù. Antral polypµµ ¼±Á¾ÀÏ ¼ö À־ ¸ðµÎ Á¦°ÅÇ϶ó´Â °Íµµ ºñÇö½ÇÀûÀÔ´Ï´Ù. Àß °üÂûÇÏ¿© ÀǽɵǴ °Í¸¸ °Ë»çÇÏ°í È®ÀÎµÈ °Í¸¸ Á¦°ÅÇÏ´Â °Íµµ ¹÷Âù ÀÏÀÏ °ÍÀÔ´Ï´Ù.


7. ºñÀ¯µÎºÎ ½ÊÀÌÁöÀå ¼±Á¾. Non-ampullary duodenal adenoma

½ÊÀÌÁöÀå ¼±Á¾Àº FAP ȯÀÚÀÇ ´ëºÎºÐ¿¡¼­ ¹ß°ßµÇ°í ÀÏ»ý µ¿¾È °ÅÀÇ 100%¿¡¼­ ¹ß»ýÇÕ´Ï´Ù. ½ÊÀÌÁöÀå 2ºÎ³ª 3ºÎ¿¡ ¸¹½À´Ï´Ù. ½ÊÀÌÁöÀå ¼±Á¾Àº ¼ö, Å©±â, Á¶Á÷ÇÐÀû ºÐ·ù, ±×¸®°í ÀÌÇü¼º Á¤µµ µî 4°¡Áö ÁöÇ¥·Î °è»êÇÏ´Â Spigelman º´±â·Î ºÐ·ùÇÕ´Ï´Ù.

FAP ȯÀÚÀÇ ½ÊÀÌÁöÀå ¼±Á¾ Á¶Á÷ ¼Ò°ß. ½ÊÀÌÁöÀå ºê·ç³Ê»ù »ó¹æ¿¡ ¼±Á¾ÀÌ º¸ÀδÙ.

Duodenal adenomas in FAP

Duodenal adenomas in FAP

½ÊÀÌÁöÀåÀÇ ÀÌ·¯ÇÑ ¹Ì¼¼ÇÑ º¯È­µé¿¡ ´ëÇؼ­´Â ¾î¶»°Ô ÇÒ °ÍÀΰ¡ °í¹ÎÀÔ´Ï´Ù. ÀÌ ¸ðµç °ÍµéÀ» ¼±Á¾À¸·Î count Çϸé Spigelman º´±â°¡ ³ô¾ÆÁö±â ¸¶·ÃÀ̴ϱî¿ä.

Pentax »çÀÇ ½ÅÇü ³»½Ã°æ Imagina¸¦ ÀÌ¿ëÇÏ¿© °üÂûÇÑ FAP ȯÀÚÀÇ ½ÊÀÌÁöÀå ¼±Á¾µéÀÔ´Ï´Ù. ¸¹Àº ¼±Á¾µéÀÌ ÇÑ È­¸é¿¡ µé¾î¿É´Ï´Ù. ÀÌ ¸ðµç °ÍÀ» Ä¡·á(¼ÒÀÛ¼ú)ÇÒ ÇÊ¿ä°¡ ÀÖ´ÂÁö ºÒ¸íÈ®ÇÕ´Ï´Ù. ¾ÆÁ÷±îÁö Ç¥ÁØÀûÀÎ Ä¡·á´Â °æ°ú°üÂûÀÔ´Ï´Ù. Sulindac µîÀÇ È¿°ú´Â ÀÔÁõµÇ¾î ÀÖÁö ¾Ê°í ºÎÀÛ¿ë ¿ì·Á°¡ Å®´Ï´Ù. ÀÌ·¡ Àú·¡ °í¹ÎÇÏÁö ¾ÊÀ» ¼ö ¾ø½À´Ï´Ù.

½ÊÀÌÁöÀå À¯µÎºÎ ¼±Á¾Àº Á÷½Ã°æº¸´Ù Ãø½Ã°æÀ¸·Î Àß °üÂûÇÒ ¼ö ÀÖ½À´Ï´Ù. CapÀ» ÀåÂøÇÑ Á÷½Ã°æÀ¸·Î °üÂûÇϸé Ãø½Ã°æ°ú °ÅÀÇ ºñ½ÁÇÑ °üÂûÀ» ÇÒ ¼ö ÀÖ´Ù´Â ¿¬±¸µµ ÀÖ½À´Ï´Ù (Kallenberg FG. Endoscopy 2017). ±×·¯³ª ¸ðµç ȯÀÚ¿¡¼­ Cap-Á÷½Ã°æÀ̳ª Ãø½Ã°æÀ» »ç¿ëÇØ¾ß ÇÒÁö´Â ¹ÌÁö¼öÀÔ´Ï´Ù. Àú´Â ±×³É º¸Åë Á÷½Ã°æÀ¸·Î °üÂûÇÏ°í ÀÖ½À´Ï´Ù.

½ÊÀÌÁöÀå ¼±Á¾Àº ³»½Ã°æ¿¡¼­ÀÇ Ã³À½ÀÇ Spigelman º´±â¿¡ µû¶ó ¾Ï ¹ß»ýÀ§ÇèÀÌ ³ô¾ÆÁö´Âµ¥, IV±â ½ÊÀÌÁöÀå ¼±Á¾ ȯÀÚ¿¡¼­ ¾Ï ¹ß»ý ºñÀ²Àº 7%¿¡¼­ºÎÅÍ 36%ÀÔ´Ï´Ù. FAP ȯÀÚ 114¸íÀ» ÃßÀû°üÂûÇÑ ¿¬±¸¿¡¼­ À¯µÎ¾Ï 3¸í, ½ÊÀÌÁöÀå¾Ï 3¸íÀÌ ¹ß»ýÇÏ¿´½À´Ï´Ù. ½ÊÀÌÁöÀå ¼±Á¾Àº ´ëºÎºÐ ´Ù¹ß¼ºÀ̹ǷΠÇÑ µÎ °³ÀÇ ¼±Á¾À» Ä¡·áÇÑ´Ù°í ÇØ°áµÇ´Â °ÍÀÌ ¾Æ´Õ´Ï´Ù. Àç¹ßÇÒ °¡´É¼ºÀÌ Çö½ÇÀûÀ¸·Î 100% ÀÔ´Ï´Ù.

½ÊÀÌÁöÀå ¼±Á¾ÀÇ Ä¡·á¿øÄ¢Àº °æ°ú°üÂûÀ» ÇÏ´Ù°¡ Spigelman IV°¡ µÇ¸é ¼ö¼ú(Whipple ȤÀº PPPD)ÇÏ´Â °ÍÀÔ´Ï´Ù. ±×·¯³ª ¾Ï¹ß»ý À§ÇèÀÌ ³ôÀº ȯÀÚ¿¡¼­ °æ°ú°üÂû¸¸ ±ÇÇÏ´Â °ÍÀº ½±Áö ¾Ê½À´Ï´Ù. ÀÓ»óÀǵéÀÇ °í¹ÎÀÌ Å¬ ¼ö ¹Û¿¡ ¾ø½À´Ï´Ù.

SulindacÀ̳ª celecoxib¸¦ ¾²¸é º´¼ÒÀÇ Å©±â³ª ¹üÀ§°¡ ¾à°£ ÁÙ¾îµéÁö¸¸ ¼±Á¾Àº ¾ø¾îÁöÁö ¾Ê½À´Ï´Ù. Àå±â°£ ¾àÁ¦ »ç¿ë¿¡ µû¸¥ ºÎÀÛ¿ëµµ ÀûÁö ¾Ê±â ¶§¹®¿¡ ÀÓ»ó¿¡¼­´Â Àß Ã³¹æµÇÁö ¾Ê½À´Ï´Ù.

±¤¿ªµ¿Ä¡·á°¡ ½ÃµµµÈ ¹Ù ÀÖÀ¸³ª ÀÌ ¶ÇÇÑ »ç¿ëºóµµ´Â ³·½À´Ï´Ù. ÃÖ±Ù¿¡´Â °£´ÜÇÏ°í ¾ÈÀüÇÑ APC°¡ ¸¹ÀÌ »ç¿ëµÇ°í ÀÖ½À´Ï´Ù. APCÀÇ È¿°ú¿¡ ´ëÇÑ Àå±âÃßÀû ¼ºÀûÀº ¾ÆÁ÷ ¾ø½À´Ï´Ù.

APC ablationÀ» ÀÌ¿ëÇÑ ½ÊÀÌÁöÀå ¼±Á¾ÀÇ Ä¡·á

¶Ç ´Ù¸¥ °í¹ÎÀº Spigelman º´±â°¡ 1-2ÀΠȯÀÚ¿¡¼­ ¹ß°ßµÇ´Â ½ÊÀÌÁöÀå¾ÏÀÌ Àý¹Ý Á¤µµ µÇ´Â °ÍÀÔ´Ï´Ù. Âü ¾î·Á¿î À̽´ÀÔ´Ï´Ù.


[2014-12-24 Ãß°¡] Gastrointestinal Endoscopy 2014³â 11¿ùÈ£¿¡ Endoscopic treatment of severe duodenal polyposis... ³í¹®ÀÌ ½Ç·È½À´Ï´Ù. FAP ȯÀÚ¿¡¼­ ½ÊÀÌÁöÀå ¼±Á¾ÁõÀÌ ½ÉÇÏ¸é ¼ö¼úÀ» ÇÏ´Â °ÍÀÌ ¿øÄ¢ÀÔ´Ï´Ù¸¸ ´Ã ÇÕº´ÁõÀÌ °ÆÁ¤ÀÔ´Ï´Ù. 2012³â¿¡´Â postoperative morbidity rate°¡ 42%¶ó´Â ÇÁ¶û½ºÀÇ º¸°íµµ ÀÖ¾ú½À´Ï´Ù. À̹ø ³í¹®Àº ³»½Ã°æÀ¸·Î Çصµ ´ë°­Àº µÈ´Ù´Â °ÍÀÔ´Ï´Ù. Àå±â ¼ºÀûÀÌ ¾øÀ¸¹Ç·Î Á» ´õ ÁöÄѺÁ¾ß ÇÏ°ÚÁö¸¸... À̹ø¿¡ ¼Ò°³µÈ algorithmÀÔ´Ï´Ù.


[2019-4-25] FAP ȯÀÚÀÇ duodenal adnoma¿¡ ´ëÇÑ ÃÖ±Ù ¹®ÇåÀ» ÇÔ²² °øºÎÇÏ¿´½À´Ï´Ù. ½ÊÀÌÁöÀå¾ÏÀ» ¿¹ÃøÇϴµ¥ Spigelman stage°¡ ±×´ÙÁö Á¤È®ÇÏÁö ¾Ê´Ù´Â ³»¿ëÀ̾ú½À´Ï´Ù.

Spigelman Stage IV Duodenal Polyposis Does Not Precede Most Duodenal Cancer Cases in Patients With Familial Adenomatous Polyposis


[American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes (GIE 2020)]

Recommendations (duodenum). In summary, duodenal polyposis occurs in almost all FAP patients, with most having earlystage disease. Progression to stage IV disease occurs in about 15 to 20 years with a median age at diagnosis of duodenal cancer in the fifth decade. Important aspects of management are to identify and closely follow patients with risk factors for developing malignancy, such as those with Spigelman stages III and IV at baseline EGD, as well as individual polyp characteristics of HGD, polyp size >1 cm, and flat, carpeted growth that may be difficult to completely resect. Particular attention to the periampullary area, where 50% of the cancers occurs, is recommended. Endoscopic treatment is used to downstage disease with the goal to delay the development of stage IV disease. Advanced duodenal disease should be followed more closely and treated more aggressively. Once Spigelman stage IV is present, multidisciplinary discussion is recommended to assess the appropriate time for surgical resection. Although endoscopic resection of duodenal and ampullary lesions is recommended, it is unknown if this truly changes the natural history of cancer risk based on the original Spigelman stage because there is an underlying field defect in the duodenum. Further long-term prospective studies are needed to evaluate this important question.

ÀÌÁØÇà ñÉ (2020-5-9): À§¿¡¼­´Â ¸Å¿ì aggressiveÇÑ ¹æ¹ýÀÌ Á¦½ÃµÈ ¹Ý¸é ½ÊÀÌÁöÀå¿¡¼­´Â ³»½Ã°æ Ä¡·áÀÇ È¿°ú¸¦ ÀÚ½ÅÇÏÁö ¸øÇÏ´Â ºÐÀ§±â±º¿ä. Ampullary area´Â ¾Ï¹ß»ýÀÌ ¸¹°í Ä¡·á°¡ È®½ÇÇÏ°Ô µÉ ¼ö ÀÖÀ¸¹Ç·Î ampullectomy¸¦ Àû±ØÀûÀ¸·Î ½ÃÇàÇÏ´Â °ÍÀº ÁÁÀ» °Í °°½À´Ï´Ù. Non-ampullary area¿¡¼­´Â ¹«¸®ÇÏÁö ¾Ê´Â °ÍÀÌ ³ªÀ» °ÍÀÔ´Ï´Ù. Àú´Â °¡²û ablationÀ» Çϱ⵵ ÇÏÁö¸¸ ±×³É °æ°ú°üÂû Çϴ ȯÀÚµµ ¸¹½À´Ï´Ù.

20³â Àü ´ëÀå¾Ï ¼ö¼úÇϽŠFAP ȯÀÚÀÇ multiple duodenal adenomas¿Í fundic gland polyposis. ¼ö ³â °£ °üÂû ÁßÀÌÁö¸¸ Å« º¯È­°¡ ¾ø¾úÀ½.

Intensive downstaging polypectomy (IDP) for multiple duodenal adenomas, Áï ¸Å¿ì ¸¹Àº polypectomy¸¦ Çؼ­ duodenal adenomas¸¦ °ü¸®ÇÏ´Â ¹æ¹ýÀÌ ¼Ò°³µÇ¾ú½À´Ï´Ù (Endoscopy 2023). ¿ÀÁ÷ ÀϺ»¿¡¼­¸¸ ÇÒ ¼ö ÀÖ´Â ÀÏÀ̶ó°í »ý°¢ÇÕ´Ï´Ù. ¿ì¸®³ª¶ó Çö½Ç¿¡¼­´Â ºÒ°¡´É.


8. À§Àú¼±¿ëÁ¾Áõ. Fundic gland polyposis

F/45. History of total colectomy. Duodenal adenomas and gastric fundic gland polyposis

À§Àú¼± ¿ëÁ¾Àº FAP ȯÀÚÀÇ 90%¿¡¼­ ¹ß°ßµË´Ï´Ù. FAP ȯÀÚ°¡ ¾Æ´Ñ ÀϹÝÀο¡¼­ ¿ì¿¬È÷ ¹ß°ßµÇ´Â ¼Ò¼öÀÇ »ê¹ßÀû À§Àú¼± ¿ëÁ¾Àº Àü¾Ï¼º º´¼Ò°¡ ¾Æ´Ï¹Ç·Î ¾Æ¹«·± Ä¡·áµµ ÇÊ¿äÇÏÁö ¾Ê½À´Ï´Ù. ±×¿¡ ¹ÝÇÏ¿© FAP ȯÀÚÀÇ À§Àú¼± ¿ëÁ¾Àº 40% Á¤µµ¿¡¼­ ÀÌÇü¼ºÀ» º¸ÀÔ´Ï´Ù. Áï FAP ȯÀÚÀÇ À§Àú¼± ¿ëÁ¾Àº º´¸®ÇÐÀûÀÎ °üÁ¡¿¡¼­ »ê¹ßÀûÀÎ À§Àú¼± ¿ëÁ¾°ú Â÷ÀÌ°¡ ÀÖ½À´Ï´Ù. FAP ȯÀÚ¿¡¼­ À§Àú¼± ¿ëÁ¾ÀÇ ÀÌÇü¼ºÀÌ ¼±ÇàµÈ »óÅ¿¡¼­ ÀÌÂ÷ÀûÀ¸·Î APC º¯ÀÌ°¡ ¹ß»ý½Ã¿¡´Â ¸Å¿ì µå¹°Áö¸¸ Àü¾Ï¼º º´¼Ò°¡ µÉ °¡´É¼ºµµ °¡Áö°í ÀÖ½À´Ï´Ù. ±×·¯³ª ±× ºóµµ´Â ¸Å¿ì ³·±â ¶§¹®¿¡ FAP¿¡¼­ ¹ß°ßµÇ´Â À§Àú¼± ¿ëÁ¾¿¡ ´ëÇؼ­´Â Ưº°ÇÑ Ä¡·á¸¦ ÇÏÁö ¾Ê°í °æ°ú°üÂû¸¸ ±ÇÇÏ°í ÀÖ½À´Ï´Ù.

(2017, F/25) ´ëÀå ¼±Á¾ÀÌ attenuated FAP Á¤µµ ȤÀº ±×º¸´Ù ¾à°£ ¸¹Àº Á¤µµÀÌÁö ´ëÀå Àüü°¡ adenomatous polypµé·Î ±ò¸° °æ¿ì´Â ¾Æ´Õ´Ï´Ù. ±×·¯³ª À§¿¡ ¶Ñ·ÇÇÑ fundic gland polyposis°¡ ÀÖ´Â °ÍÀ¸·Î À¯ÃßÇϰǵ¥ FAP°¡ Ʋ¸²¾ø½À´Ï´Ù.

FAP·Î total colectomy¸¦ ¹ÞÀ¸½Å ºÐÀÇ À§³»½Ã°æ¿¡¼­ À§ÀúºÎ¿Í À§Ã¼ºÎ¿¡ ´Ù¹ß¼º ¿ëÁ¾ÀÌ ¹ß°ßµÇ¾ú½À´Ï´Ù. ÀüÇüÀûÀÎ fundic gland polyposisÀÔ´Ï´Ù. Á¶Á÷°Ë»ç¿¡¼­ fundic gland polypÀ¸·Î Æǵ¶µÇ´Â °ÍÀÌ ´ç¿¬ÇÏ°ÚÁö¸¸ °£È¤ hyperplastic polypÀ¸·Î Æǵ¶µÇ±âµµ ÇÕ´Ï´Ù. º´¸®Æǵ¶ °á°ú¿Í ¹«°üÇÏ°Ô ÀÌ·± °æ¿ì´Â fundic gland polyposis°¡ ¿Ç½À´Ï´Ù.

FAP ȯÀÚ¿¡¼­ ¸î °³ Á¤µµÀÇ fundic gland polyps ¸¸ ÀÖ´Â °æ¿ìµµ °¡´ÉÇÕ´Ï´Ù.

FAP ȯÀÚ¿¡¼­ fundic gland polyposis´Â ´ëºÎºÐ ¸Å¿ì ¸¹°Å³ª ¾ø°Å³ª µÑ Áß ÇϳªÀÔ´Ï´Ù. ¸î °³¸¸ ÀÖ´Â °æ¿ì´Â ÈçÇÏÁö ¾ÊÀº °Í °°½À´Ï´Ù. ÀÌ È¯ÀÚ´Â fundic gland polypÀÇ ¼öµµ ÀÛ°í ³ôÀ̵µ ³·¾Æ¼­ ¾ð²ý º¸¸é fundic gland polyposis°¡ ¾ø´Ù°í ¿ÀÀÎÇϱ⠽¬¿î °æ¿ìÀÔ´Ï´Ù.

FAP ȯÀÚÀ̽ŵ¥ gastric fundic gland polyposis°¡ ¾ø¾ú´ø °æ¿ì
Colon, total colectomy : Numerous tubular adenomas with low grade dysplasia (more than 2000) ;
1) size: up to 0.4x0.3 cm
2) resection margin: free from adenoma


9. À§¼±Á¾. Gastric adenoma

FAP ȯÀÚÀÇ À§¼±Á¾¿¡ ´ëÇÑ ÀÚ·á´Â °ÅÀÇ ¾ø½À´Ï´Ù. FAP¿¡¼­ À§¼±Á¾ÀÇ ¹ß»ý·üÀÌ ³·°í ±× µ¿¾È °ü½ÉÀÌ ¾ø¾ú±â ¶§¹®¿¡ ÀÚ·á°¡ ºÎÁ·ÇÏ¿© ÀÚ¿¬°æ°úµµ ¾Ë±â ¾î·Æ½À´Ï´Ù. À§¾Ï°ú À§¼±Á¾ÀÌ ¸¹Àº ¿ì¸®³ª¶ó¿¡¼­ FAP ȯÀÚÀÇ À§¼±Á¾ÀÌ ´õ¿í ¸¹ÀÌ ¹ß°ßµÇ´Â °Í °°½À´Ï´Ù. ±×·¯³ª FAP ȯÀÚÀÇ À§¼±Á¾ÀÌ FAP¿Í °ü·ÃµÈ °ÍÀÎÁö´Â ¾Ë±â ¾î·Æ½À´Ï´Ù´Ù. 2011³â ±¹³» ¹®Çå¿¡ ÀÇÇÏ¸é »óºÎÀ§Àå°ü ³»½Ã°æÀ» ½ÃÇàÇÑ FAP 148¸í¿¡¼­ À§¼±Á¾ÀÌ 14.2%, À§¾ÏÀÌ 2.7%¿´½À´Ï´Ù (Park. Gut Liver 2011;5:46-51).

Çö½ÇÀûÀ¸·Î ¼±Á¾ÀÌ ¼Ò¼ö¸é ³»½Ã°æÀýÁ¦¼úÀ», ´Ù¼ö¸é ¼ÒÀÛ¼úÀ» ½ÃÇàÇÒ ¼ö ¹Û¿¡ ¾ø½À´Ï´Ù. ±×·±µ¥ Çصµ Çصµ ¶Ç »ý±é´Ï´Ù. ÇÒ¸¸Å­ Çߴµ¥ ¶Ç »ý±â¸é ÁöÃļ­ ±×¸¸ µÑ ¼ö ¹Û¿¡ ¾ø±âµµ ÇÕ´Ï´Ù. ¾ÏÀÌ µÇ´Â ±×³¯±îÁö ±×³É µÎ´Â ¼ö ¹Û¿¡ ¾øÀ» ¼öµµ ÀÖ½À´Ï´Ù.

FAP ȯÀÚ¿¡¼­ ¹ß°ßµÈ À§¼±Á¾

FAP ȯÀÚ¿¡¼­ ¹ß°ßµÈ ´Ù¹ß¼º À§¼±Á¾¿¡ ´ëÇÑ ³»½Ã°æ ÀýÁ¦¼ú

Gastric adenomas in FAP

Gastric adenomas and duodenal adenoma in FAP

Gastric adenoma in FAP


10. À§¾Ï. Gastric cancer

FAP ȯÀÚ¿¡¼­´Â ÀϹÝÀο¡ ºñÇÏ¿© (1) ¹ß»ý·üÀÌ ¾à 3¹è ³ô°í, (2) ¹ß»ý¿¬·ÉÀÌ ³·°í, (3) ´Ù¹ß¼ºÀÌ°í, (4) À§ ÇϺο¡ ¹ß»ýÇÕ´Ï´Ù. Çѱ¹°ú ÀϺ»¿¡¼­ FAP ȯÀÚÀÇ À§¾Ï ¹ß»ý·üÀÌ ³ôÀº °æÇâÀÔ´Ï´Ù. FAP ȯÀÚ¿¡¼­ ¹ß»ýÇÑ À§¾ÏÀÌ FAP¿Í Á÷Á¢ °ü·ÃµÈ °ÍÀÎÁö ¾Ë±â´Â ¾î·Æ½À´Ï´Ù.

À§¾Ï¿¡ ´ëÇÏ¿© °¡Àå º¸ÆíÀûÀÎ ¼ö¼úÀº subtotal gastrectomy with Billroth II anstomosisÀÔ´Ï´Ù. FAP ȯÀÚ¿¡¼­ ÀÌ ¼ö¼úÀ» ½ÃÇàÇϸé ÇÑ°¡Áö ¹®Á¦°¡ »ý±é´Ï´Ù. ½ÊÀÌÁöÀå¿¡ ´ëÇÑ surveillance¸¦ ÇÒ ¼ö ¾ø´Ù´Â Á¡ÀÔ´Ï´Ù. FAP ȯÀÚÀÇ ´ëÀå ¼ö¼ú ÈÄ °¡Àå ÈçÇÑ »ç¸Á¿øÀÎÀÌ ½ÊÀÌÁöÀåÀ̹ǷΠsurveillance´Â ÇʼöÀûÀε¥ ÀÌ°Ô ºÒ°¡´ÉÇØÁö¸é Å« ¹®Á¦°¡ ¾Æ´Ò ¼ö ¾ø½À´Ï´Ù. °¡´ÉÇϸé B-I anastomosis¸¦ Çϵµ·Ï ÃßõÇÏ°í ÀÖ½À´Ï´Ù.


11. Extracolonic manifestations and related conditions


[FAP suspected by rare subtype of thyroid cancer]

°©»ó¼±¾ÏÀ¸·Î ¼ö¼ú ÈÄ ´ëÀå °Ë»ç¸¦ ÅëÇÏ¿© FAP·Î È®ÁøµÈ ȯÀÚÀÔ´Ï´Ù. º´¸® °á°ú´Â ¾Æ·¡¿Í °°½À´Ï´Ù.


Thyroid gland, lymph node, total thyroidectomy with central(anterior compartment) neck dissection: Papillary carcinomas (x3):
1) Subtype: Cribriform-morular variant
2) Tumor location: Both lobes
3) Tumor size: 0.8x0.8x0.8cm (lower pole, right), 0.3x0.3x0.2cm (mid pole, left), 1.5x1.2x1.1cm (lower pole, left)
4) Lymph vessel invasion: Absent
5) Blood vessel invasion: Absent
6) Extrathyroid extension: Present (minimal)
7) Surgical margins: Negative
8) Tumor multicentricity: Present
9) Lymph nodes ; No regional lymph node metastasis (0/2: "right central LN", 0/1; "left central LN", 0/1)
10) Other pathology: None
11) Parathyroid glands: No
12) pT1b N0
¥â-catenin: Positive in tumor cells
p27: Positive (1+, 5%)
Cyclin D1: Positive (2+, 25%)
Note: This tumor is associated with germline mutations in APC gene (e.q, familial adenomatous polyposis) although rarely associated with somatic mutations. Clinical work up is recommended.

Cribriform morular type thyroid cancer º´¸® ÀÚ·á (´Ù¸¥ ȯÀÚ). CribiriformÇÑ ¸ð½ÀÀÌ Àß º¸ÀÓ.

Pathology outlines

±× ¸¹Àº °©»ó¼±¾Ï ȯÀÚ Áß ¿Ö ÀÌ È¯ÀÚ¸¸ FAP °Ë»ç¸¦ ÇßÀ»±î¿ä? °©»ó¼±¾ÏÀÇ º´¸®ÇÐÀû Ư¼º ¶§¹®À̾ú½À´Ï´Ù. FAP¿Í µ¿¹ÝµÇ´Â °æ¿ì°¡ ¸¹Àº histological subtypeÀ̾ú±â ¶§¹®¿¡ º´¸®°ú¿¡¼­ FAP °¡´É¼ºÀ» ¾ð±ÞÇÏ¿´°í, ³»°ú¿¡¼­ À̸¦ È®ÀÎÇÏ¿´´ø °æ¿ì¿´½À´Ï´Ù. ¾Æ·¡ ¹®ÇåÀ» Âü°íÇϽñ⠹ٶø´Ï´Ù.

*Âü°í: Cribriform-morular variant of papillary thyroid carcinoma: a distinctive type of thyroid cancer.

The aim of this systematic review is to study the features of cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) by analysing the 129 documented cases in the English literature. The disease occurred almost exclusively in women. The median age of presentation for CMV-PTC was 24 years. Slightly over half of the patients with CMV-PTC had familial adenomatous polyposis (FAP). CMV-PTC presented before the colonic manifestations in approximately half of the patients with FAP. Patients with FAP often have multifocal tumours in the thyroid. Microscopic examination of CMV-PTC revealed predominately cribriform and morular pattern of cancer cells with characteristic nuclear features of papillary thyroid carcinoma. Psammoma body is rare. On immunohistochemical studies, ¥â-catenin is diffusely positive in CMV-PTC. The morular cells in CMV-PTC are strongly positive for CD10, bcl-2 and E-cadherin. Pre-operative diagnosis of CMV-PTC by fine-needle aspiration biopsy could be aided by cribriform architecture, epithelial morules and ¥â-catenin immunostaining. Mutations of APC gene are found in the patients with CMV-PTC associated with FAP. In addition, mutations in CTNNB1, RET/PTC rearrangement and PI3K3CA mutations have been reported. BRAF mutation is negative in all CMV-PTC tested. Compared to conventional papillary thyroid carcinoma, CMV-PTC had a lower frequency of lymph node metastases at presentation (12%) and distant metastases (3%) as well as lower recurrence rates (8.5%) and patients' mortality rates (2%). To conclude, patients with CMV-PTC have distinctive clinical, pathological and molecular profiles when compared to conventional papillary thyroid carcinoma.


12. Screening policy


13. Treatment


Familial adenomatous polyposis: long-term outcomes of pouch surveillance and risk of neoplasia. Endoscopy 2023

The long-term outcomes for pouch surveillance in familial adenomatous polyposis are unknown. This retrospective cohort study examined risk factors for adenomas or advanced lesions following pouch surgery and included a group with over 10 years of surveillance. Pouch adenoma progression was slow and most advanced lesions occurred after 10 years. High grade dysplasia and cancer were rare. Patients engaging early in a surveillance program may be able to have a personalized surveillance strategy based on their pouch phenotype.


14. FAP ȯÀÚ°¡ total colectomy¸¦ °ÅºÎÇÑ´Ù¸é?

2016³â 1¿ùÈ£ EndoscopyÁö¿¡ ÀϺ» ¿¬±¸ÀÚµéÀÌ total colectomy¸¦ °ÅºÎÇÑ È¯ÀÚÀÇ ³»½Ã°æ Ä¡·á¿¡ ´ëÇÑ ³î¶ó¿î ³í¹®À» ¹ßÇ¥Çß½À´Ï´Ù (Ishikawa H. Endoscopy 2016). ¼¼ ¼¾ÅÍÀÇ È¯ÀÚ¸¦ ¸ðÀº ÈÄÇâÀû ¿¬±¸¿´´Âµ¥ inclusion criteria´Â ´ÙÀ½°ú °°¾Ò½À´Ï´Ù.

Included patients were adults with FAP who had > 100 colorectal adenomas and/or a germline mutation in the APC gene, detected primarily by the Protein Truncation Test, and who strongly refused to undergo colectomy and were managed instead by endoscopic polyp clearance. The following patients were excluded: 1) patients with CRC, 2) those with large adenomas not amenable to endoscopic removal, 3) those with dense polyposis, or 4) patients who refused further endoscopic removal.

Figure 1. Endoscopic images. a Before polypectomy. b After polypectomy.

Æò±Õ 29¼¼¿¡ ã¾Æ¿Â ȯÀÚ 95¸íÀ» 5.1³â °æ°ú°üÂûÇϸ鼭 ȯÀÚ ´ç 8ȸÀÇ ´ëÀå³»½Ã°æÀ» ÅëÇÏ¿© 55,701°³ÀÇ ¿ëÁ¾À» Á¦°ÅÇÏ¿´½À´Ï´Ù. ȯÀÚ ´ç 475°³ÀÇ ¿ëÁ¾(³»½Ã°æ °Ë»ç ´ç 73°³)À» Á¦°ÅÇÑ ¼ÀÀÔ´Ï´Ù. 1,000°³ ÀÌ»óÀÇ ¿ëÁ¾À» Á¦°ÅÇÑ È¯ÀÚµµ 16¸íÀ̳ª µÇ¾ú½À´Ï´Ù. ÀÌ ¸¹Àº ¿ëÁ¾À» Á¦°ÅÇߴµ¥ ÃâÇ÷À̳ª õ°øÀº Çϳªµµ ¾ø¾ú´Ù°í ÇÕ´Ï´Ù. ´õ¿í ³î¶ø½À´Ï´Ù.

Results: Of the 95 eligible patients, five (5.3 %) were excluded. The remaining 90 patients (median age at first visit 29 years [range 16-68 years]; 46 males) were followed for a median of 5.1 years (interquartile range [IQR] 3.3-7.3 years). During this period, a total of 55,701 polyps were resected without adverse events such as bleeding or perforation. The median numbers of endoscopic treatment sessions and polyps removed per patient were 8 (IQR 6-11) and 475 (IQR 211-945), respectively. Five patients had noninvasive carcinoma (Category 4.2 according to the revised Vienna classification), detected within 10 months from the start of the follow-up period. All of these patients were treated endoscopically, without signs of recurrence during a median follow-up of 4.3 years (IQR 2.0-7.1 years). No invasive colorectal cancer was recorded during the study period. Two patients (2.2%) underwent colectomy because the polyposis phenotype had changed to dense polyposis.

Conclusion: Endoscopic management of FAP is feasible and safe in the medium term.

¹°·Ð ¿ëÁ¾ÀÌ ³Ê¹« ¸¹¾Ò´ø FAP ȯÀÚÀÇ °æ¿ì("dense polyposis")´Â óÀ½ºÎÅÍ Á¦¿ÜµÇ¾ú½À´Ï´Ù. ¾Æ¹«¸® ±×·¸´õ¶óµµ ÇÑ È¯ÀÚ´ç °ÅÀÇ 500°³ÀÇ ¿ëÁ¾À» Á¦°ÅÇÑ´Ù´Â °ÍÀº Àú·Î¼­´Â µµÀúÈ÷ »ó»óÇÒ ¼ö ¾ø´Â ÀÏÀÔ´Ï´Ù. ÀúÀÚµéÀº "medium term"¿¡¼­´Â º° ¹®Á¦°¡ ¾ø´Â °Í °°´Ù°í ÇÏ¿´Áö¸¸ long term °á°ú¸¦ ²À »ìÆìºÁ¾ß ÇÒ ¿¬±¸¶ó°í »ý°¢µË´Ï´Ù.

Figure 3. Endoscopic appearance of dense polyposis. a With indigo carmine dye application. b Without indigo carmine dye application. The entire surface of the mucosa is covered with innumerable flat adenomas.

À̹ø ÀϺ» ¿¬±¸ ´ÙÀ½¿¡ SpainÀÇ ¿¬±¸°¡ ½Ç·È½À´Ï´Ù (Valentin F. Endoscopy 2016). ÀϺΠFAP°¡ Æ÷ÇԵǾú´ÂÁö´Â ¸ð¸£°ÚÀ¸³ª 10-100°³ Á¤µµÀÇ ´ëÀå ¿ëÁ¾ÀÌ ÀÖ¾ú´ø 265¸í¿¡ ´ëÇÑ ÈÄÇâÀû ¿¬±¸¿´´Âµ¥ Á¦¹ý ¸¹Àº »ç¶÷µéÀÌ ¾ÏÀÌ µÇ°Å³ª ¼ö¼úÀ» ¹Þ¾Ò½À´Ï´Ù.

Patients underwent a median of 5 colonoscopies, and 17 patients (6.4 %) were diagnosed with CRC. A total of 32 patients (12.1 %) underwent surgery, including 15 (5.7 %) for prophylaxis without a diagnosis of CRC.

ÀϺ» ¿¬±¸¿Í ½ºÆäÀÎ ¿¬±¸¸¦ Á¾ÇÕÇÏ¿© ¹Ì±¹ÀÇ Andrew Kaz (Á¦°¡ 2007³â ¹Ì±¹ Seattle ¿¬¼ö ½ÃÀý¿¡ °°Àº ½ÇÇè½Ç¿¡¼­ ÇÔ²² ÀÏÇß´ø µ¿·á¿´½À´Ï´Ù)°¡ editorialÀ» ½è½À´Ï´Ù. ºñ·Ï ÀϺ»¿¡¼­ ÁÁÀº °á°ú¸¦ º¸¿©ÁÖ¾úÁö¸¸ ¾ÆÁ÷ ¼ö¼úÀ» Ç϶ó´Â °¡À̵å¶óÀÎ(AGC guideline 2015)À» ¹Ù²Ü ¶§´Â ¾Æ´Ï´Ù°í ¾²°í ÀÖ½À´Ï´Ù.

While these studies do offer some reassurance about the feasibility of endoscopic management of patients with colon polyposis, the intensive procedural demands of the Japanese study, the relatively high cancer risk seen in the Spanish study, and the modest duration of follow-up should make us cautious about revising any current treatment guidelines. So what counsel should we provide to our patients with colon polyposis? First, based on our cumulative knowledge about colon polyposis syndromes, we should continue to stress that colectomy remains the treatment of choice for FAP or in any case of polyposis where endoscopic clearance of colon polyps is no longer achievable, as per current guidelines. Second, chemoprevention with nonsteroidal anti-inflammatory drugs such as aspirin, sulindac, or celecoxib has been shown to reduce the colorectal polyp burden in polyposis syndromes, although their effect on preventing cancer in these patients is less clear. Clinicians should emphasize that these medications are no substitute for colectomy, but they may make the strategy of colonoscopy and polypectomy more successful by reducing polyp size and/or number.?For those who decline colectomy or for whom colectomy is not yet indicated, it appears that carefully selected cases can be managed with polypectomy in the short term. We agree with Ishikawa et al. and others that high risk patients who defer colectomy should be managed by expert endoscopists with the capacity to offer chromoendoscopy, endoscopic mucosal resection, and other advanced resection techniques in a setting that allows for lengthy procedures . Although the optimal colonoscopy surveillance interval for patients with FAP and other polyposis syndromes who decline colectomy has yet to be determined, it is important for clinicians to educate this patient population about their cancer risk as precisely as possible and to ensure that they understand the limited evidence regarding long term outcomes of endoscopic treatment.


[FAQ]

[ÀÏÀÚ ¹Ì»ó. ¾Öµ¶ÀÚ Áú¹®]

FAP ¹× hernia ·Î ¼ö¼ú ÈÄ ÁÖ±âÀûÀ¸·Î °æ°ú°üÂû ÁßÀÎ ºÐÀÇ EGD¸¦ ½ÃÇàÇÏ¿´½À´Ï´Ù. Ampullary adenoma¿Í duodenal adenomaµéÀ» ¹ß°ßÇÏ°í Á¶Á÷°Ë»ç¿¡¼­ ¸ðµÎ tubular adenoma·Î È®ÀεǾú½À´Ï´Ù. ¼±Á¾ °³¼ö¸¦ ¸íÈ®È÷ ¼¿ ¼ö´Â ¾ø¾úÁö¸¸ modified Spigelman's score ¿¡ µû¸£¸é Á¡¼ö´Â 6-7Á¡, stage II ÀÌÇÏ°¡ ¾Æ´Ò±î »ý°¢µË´Ï´Ù. ³»½Ã°æ ½ÃÇà ´ç½Ã EGD·Î´Â º´º¯ÀÇ distal marginÀ» Á¤È®È÷ ±×¸®±â ¾î·Á¿ü½À´Ï´Ù. ÀÌ·± °æ¿ì¿¡ colonoscopy·Î¶óµµ ´Ù½Ã Àç°Ë»ç¸¦ Çؼ­ ½ÊÀÌÁöÀåÀ» ¸ðµÎ µé¿©´Ù º¼ Çʿ伺ÀÌ ÀÖ´ÂÁö, multiple duodenal adenomas´Â ³»½Ã°æÀûÀ¸·Î ¸ðµÎ ÀýÁ¦Çϱ⠾î·Á¿ï °ÍÀ¸·Î º¸À̴µ¥ ampullary adenoma´Â ³»½Ã°æ ÀýÁ¦¸¦ ÇØÁÖ´Â °ÍÀÌ ÁÁÀºÁö ¿©ÂÞ°í ½Í½À´Ï´Ù. ¾Æ´Ï¶ó¸é 6°³¿ù¿¡ Çѹø¾¿ ³»½Ã°æÀ» ÇÏ´Ù°¡ ¾Ï ¹ß»ý½Ã ¼ÒÀåÀýÁ¦¼úÀ» ÇØÁÖ´Â °ÍÀÌ ÁÁÀº ¹æ¹ýÀϱî¿ä.

[ÀÌÁØÇà ´äº¯]

½ÊÀÌÁöÀå¼±Á¾Àº FAP ȯÀÚÀÇ ´ëºÎºÐ¿¡¼­ ¹ß»ýÇÕ´Ï´Ù. ½ÊÀÌÁöÀå Á¦ 2ºÎ¿Í Á¦ 3ºÎ¿¡¼­ ¸¹½À´Ï´Ù. FAP ȯÀÚ¿¡¼­ ½ÊÀÌÁöÀå¼±Á¾Àº ¼ö, Å©±â, histology (villous component ¿©ºÎ), dysplasiaÀÇ Á¤µµ·Î °è»êÇÏ´Â Spigelman stage·Î ºÐ·ùÇÕ´Ï´Ù. ½ÊÀÌÁöÀå ¼±Á¾Àº 10% Á¤µµ ¾Ï¹ß»ý À§ÇèÀ» °¡Áø´Ù°í º¸°í ÀÖ½À´Ï´Ù. Áúº´ÀÇ Æ¯¼º»ó ½ÊÀÌÁöÀå ¼±Á¾Àº ´Ù¹ß¼ºÀÏ ¼ö ¹Û¿¡ ¾øÀ¸¹Ç·Î ¼±Á¾ ÇÑ µÎ °³¸¦ Ä¡·áÇÑ´Ù°í ÇØ°áµÇÁö ¾Ê½À´Ï´Ù. 100% Àç¹ßÇÑ´Ù°í º¸¸é µË´Ï´Ù.

±³°ú¼­³ª ³í¹®¿¡´Â FAP ȯÀÚÀÇ ½ÊÀÌÁöÀå¼±Á¾Àº ¿ì¼± °æ°ú°üÂûÀ» ÇÏ´Ù°¡ Spigelman stage IV°¡ µÇ¸é ¼ö¼ú(À̶§ ¼ö¼úÀº Whipple)À» Ç϶ó°í µÇ¾î ÀÖ½À´Ï´Ù. ±×·¯³ª ¾Ï¹ß»ý À§ÇèÀÌ ³ôÀº ȯÀÚ¿¡¼­ ¾Æ¹« Ä¡·áµµ ÇÏÁö ¾Ê±â´Â ¾î·Æ±â ¶§¹®¿¡ °í¹ÎÀÏ ¼ö ¹Û¿¡ ¾ø½À´Ï´Ù. SulindacÀ̳ª celecoxib¸¦ ¾²¸é º´¼ÒÀÇ Å©±â³ª ¹üÀ§°¡ ¾à°£ ÁÙ¾îµéÁö¸¸ ¼±Á¾ÀÌ ¾ø¾îÁö´Â °ÍÀº ¾Æ´Õ´Ï´Ù. ºÎÀÛ¿ëµµ ÀûÁö ¾Ê±â ¶§¹®¿¡ Àß Ã³¹æµÇÁö ¾Ê°í ÀÖ½À´Ï´Ù. ÃÖ±Ù¿¡´Â APC¸¦ ÀÌ¿ëÇÑ ¼ÒÀÛ¼úÀÌ À¯ÇàÀÔ´Ï´Ù. ±×·¯³ª ¾ÆÁ÷ ÀÌ¿¡ ´ëÇÑ ÁÁÀº Àӻ󿬱¸´Â ¾ø½À´Ï´Ù. À¯µÎ¼±Á¾Àº ³»½Ã°æÀýÁ¦¼úÀ» ÇØ ÁÖ´Â °ÍÀÌ º¸ÅëÀÔ´Ï´Ù.

¿äÄÁµ¥ À¯µÎ¼±Á¾ ampullectomy, ½ÊÀÌÁöÀå¼±Á¾ APC ¼ÒÀÛ¼úÀ» ±ÇÇÏ°Ú½À´Ï´Ù. Ưº°È÷ obstructionÀÇ Áõ¼¼°¡ ¾øÀ¸¸é ´ëÀå³»½Ã°æÀ¸·Î ½ÊÀÌÁöÀåÀ» Á» ´õ ±í¼÷È÷ º¼ ÇÊ¿ä´Â ¾ø´Ù°í »ý°¢ÇÕ´Ï´Ù.


[2014-4-10. ¾Öµ¶ÀÚ Áú¹®]

´Ã ±ÍÇÑ ÀÚ·á º¸³»Áּż­ ¾ÆÁÖ À¯ÀÍÇÏ°Ô µµ¿ò ¹Þ°í ÀÖ½À´Ï´Ù. FAP ȯÀÚ Áõ·Ê¸¦ Àß º¸¾Ò½À´Ï´Ù. Á¦ ȯÀÚ ÇÑ ºÐÀÌ FAP·Î total colectomy¸¦ Çߴµ¥ À§¿¡¼­ ¹Ýº¹ÀûÀ¸·Î ¼±Á¾ÀÌ ¹ß°ßµÇ°í ÀÖ½À´Ï´Ù. ÀÌ °æ¿ì ¼±»ý´ÔÀº ¾î¶»°Ô ÇϽôÂÁö¿ä? óÀ½ ¹ß°ßµÈ °ÍÀº ESD¸¦ Çß½À´Ï´Ù¸¸, 6°³¿ù °£°Ý ÃßÀû°Ë»ç¿¡¼­ ÀÚ²Ù ¼±Á¾ÀÌ ¹ß°ßµÇ¾î ÀÌÁ¦´Â ¾Æ¿¹ APC·Î ¼ÒÀÛ¼ú¸¸ ÇÏ°í ÀÖ½À´Ï´Ù. Total gastrectomy¸¦ Çϱ⵵ ±×·¸±¸¿ä... ±×¸®°í ¼±»ý´Ô Áõ·Êó·³ duodenal adenomatosis°¡ ÀÖ´Â °æ¿ì Âü ³­°¨ÇÒ °Í °°½À´Ï´Ù.^^

[2014-4-11. ÀÌÁØÇà ´äº¯]

Germline mutation¿¡ ÀÇÇÑ º´À̹ǷΠġ·á¸¦ ¼­µÎ¸£±âº¸´Ù´Â °æ°ú°üÂûÀ» Àß ÇÏ´Ù°¡ ÀûÀýÇÑ ½ÃÁ¡¿¡ interventionÀ» ÇÏ¸é µÇ°Ú½À´Ï´Ù. º´º¯ÀÌ Çѵΰ³¸é ÀýÁ¦¼úÀ» ÇÒ ¼ö ÀÖ°í, ¿©·¯°³¸é ¼ÒÀÛ¼úÀ» Çϰųª ¾Æ´Ï¸é ¾Æ¿¹ ÁöÄѺ¸´Â °Íµµ ¹æ¹ýÀÔ´Ï´Ù. Ä¡·á¾øÀÌ ÁöÄѺ¸´Â °ÍÀÌ ¸¶À½¿¡ °É¸®Áö¸¸ ÇöÀç ±³°ú¼­ÀûÀÎ ¹æ¹ýÀº ½ÉÇØÁö±â Àü±îÁö´Â Ä¡·á¾øÀÌ ÁöÄѺ¸´Â °ÍÀÔ´Ï´Ù. ÁöÄѺ¸´Â °Í¿¡ ´ëÇÏ¿© ¸¶À½ÀÇ ºÎ´ãÀ» °¡Áú ÇÊ¿ä´Â ¾ø´Ù°í »ý°¢ÇÕ´Ï´Ù. Àú´Â "ÇÒ ¼ö ÀÖÀ¸¸é ÇÑ´Ù. ±×·¯³ª ¹«¸®´Â ¾È ÇÑ´Ù"¶ó´Â ÀÔÀåÀÔ´Ï´Ù. ¾Æ·¡ °ü·Ã ÀڷḦ Âü°íÇϽñ⠹ٶø´Ï´Ù.


[2015-2-17. ¾Öµ¶ÀÚ Áú¹®]

¸ÅÀÏ°°ÀÌ ¼±»ý´ÔÀÇ ÀÏÀÏ°øºÎ¸¦ ¹Þ¾Æº¸´Ï, ´Ã ¼±»ý´Ô°ú ¾ó±¼À» ¸¶ÁÖÇÏ°í »ç´Â ±âºÐÀÔ´Ï´Ù. °¨»çÇÕ´Ï´Ù. ±¸Á¤ »õÇصµ º¹ ¸¹ÀÌ ¹ÞÀ¸½Ê½Ã¿À.

±×¸®°í ¼±»ý´Ô²² ÇÑ°¡Áö ¿©Â庼 °ÍÀÌ ÀÖ½À´Ï´Ù. FAPÀ¸·Î °ú°Å total colectomy¸¦ ½ÃÇàÇÑ È¯ÀÚÀε¥, angle¿¡ ulcer°¡ ÀÖ°í ÀÛÀº nodular lesionÀÌ angleÀ» Áß½ÉÀ¸·Î ºÐÆ÷ÇÏ°í ÀÖ¾ú½À´Ï´Ù. ¶ÇÇÑ duodenumµµ ¸î°³ÀÇ ¿ëÁ¾ÀÌ 2nd portion¿¡ ÀÖ¾ú½À´Ï´Ù. óÀ½¿¡´Â angular lesionÀÌ ulcer¸¦ µ¿¹ÝÇÏ°í ÀÖ¾î AGC·Î »ý°¢ÇÏ°í BxÇÏ¿´°í noduleµéµµ Bx¸¦ ÇÏ¿´´Âµ¥ cancer´Â È®ÀεÇÁö ¾Ê°í ÀüºÎ tubular adenoma with low grade dysplasia¸¸ ³ª¿Ô½À´Ï´Ù. À§ º´º¯¿¡ ´ëÇؼ­´Â ´Ù½Ã EGD Bx¸¦ ÇÒ »ý°¢Àε¥, ¹®Á¦´Â ½ÊÀÌÁöÀå º´º¯µéµµ ¸ðµÎ tubular adenoma with low grade dysplasia¿´½À´Ï´Ù. papilla¿ª½Ã neoplasticÇÏ¿´À¸³ª pancreatitis ¿ì·Á ¶§¹®¿¡ Bx´Â ÇÏÁö ¾ÊÀº »óÅÂÀÔ´Ï´Ù. À§ º´º¯¿¡ ´ëÇؼ­´Â ¾Æ¸¶µµ gastrectomy¸¦ ÇؾßÇÏÁö ¾ÊÀ»±î »ý°¢µµ µÇ´Âµ¥, ¸¸ÀÏ À§¸¦ ¼ö¼úÇß´Ù°í ÇÏ´õ¶óµµ small bowel¿¡ ÀÖ´Â adenomaµéÀÌ ¶Ç °ÆÁ¤ÀÔ´Ï´Ù. Áö±ÝÀº 2-3°³ Á¤µµ¿Í papillary lesionÁ¤µµ¸¸ º» »óÅÂÀÌÁö¸¸ ´õ ±íÀÌ µé¾î°¡¸é ´õ ¸¹Àº º´º¯ÀÌ ³ª¿Ã ¼ö ÀÖÀ» °Í °°¾Æ °í¹ÎÀÔ´Ï´Ù.

[2015-2-20. ÀÌÁØÇà ´äº¯]

°í¹ÎµÇ´Â ȯÀÚ¶ó´Â Á¡¿¡ µ¿ÀÇÇÕ´Ï´Ù. Á¤´äÀÌ ¾ø´Â ÀÌÀ¯¶ó°í »ý°¢µË´Ï´Ù¸¸, ÀúÀÇ »ý°¢Àº °ú°Å¿¡ ¸»¾¸µå¸° ¹Ù¿Í °°½À´Ï´Ù.

"Germline mutation¿¡ ÀÇÇÑ º´À̹ǷΠġ·á¸¦ ¼­µÎ¸£±âº¸´Ù´Â °æ°ú°üÂûÀ» Àß ÇÏ´Ù°¡ ÀûÀýÇÑ ½ÃÁ¡¿¡ interventionÀ» ÇÏ¸é µÇ°Ú½À´Ï´Ù. º´º¯ÀÌ Çѵΰ³¸é ÀýÁ¦¼úÀ» ÇÒ ¼ö ÀÖ°í, ¿©·¯°³¸é ¼ÒÀÛ¼úÀ» Çϰųª ¾Æ´Ï¸é ¾Æ¿¹ ÁöÄѺ¸´Â °Íµµ ¹æ¹ýÀÔ´Ï´Ù. Ä¡·á¾øÀÌ ÁöÄѺ¸´Â °ÍÀÌ ¸¶À½¿¡ °É¸®Áö¸¸ ÇöÀç ±³°ú¼­ÀûÀÎ ¹æ¹ýÀº ½ÉÇØÁö±â Àü±îÁö´Â Ä¡·á¾øÀÌ ÁöÄѺ¸´Â °ÍÀÔ´Ï´Ù. ÁöÄѺ¸´Â °Í¿¡ ´ëÇÏ¿© ¸¶À½ÀÇ ºÎ´ãÀ» °¡Áú ÇÊ¿ä´Â ¾ø´Ù°í »ý°¢ÇÕ´Ï´Ù. Àú´Â "ÇÒ ¼ö ÀÖÀ¸¸é ÇÑ´Ù. ±×·¯³ª ¹«¸®´Â ¾È ÇÑ´Ù"¶ó´Â ÀÔÀåÀÔ´Ï´Ù." (2014-4-11. ÀÌÁØÇà)

Ampulla of vaterÀÇ ¼±Á¾Àº papillectomy¸¦ ±ÇÇÕ´Ï´Ù. ±×·¯³ª gastrectomy¸¦ °í·ÁÇÒ ´Ü°è´Â ¾Æ´Ñ °Í °°½À´Ï´Ù. À§¿Í ½ÊÀÌÁöÀåÀÇ ´Ù¹ß¼± ¼±Á¾Àº ³»½Ã°æÄ¡·á¸¦ ±ÇÇÕ´Ï´Ù. Total gastrectomy¿Í Whipple ¼ö¼úÀ» ÇÒ ¼öµµ ÀÖ°ÚÁö¸¸ ¾ÏÀÌ ¾Æ´Ñ ´Ü°è¿¡¼­ ±×·± Å« Ä¡·á°¡ ÇÊ¿äÇÑÁöµµ Àǹ®À̸鼭 »îÀÇ Áú ÀúÇÏÀÇ ¹®Á¦µµ °í·ÁÇØ¾ß ÇÕ´Ï´Ù. ÀýÁ¦¼úÀ̳ª ¼ÒÀÛ¼ú µî ÀûÀýÇÑ ³»½Ã°æÄ¡·á¸¦ Çϸ鼭 °æ°ú°üÂûÀ» ÇÏ´Ù°¡ ¼±Á¾ÀÌ ³Ê¹« ½ÉÇØÁö°Å³ª ¾ÏÀÌ µÈ °æ¿ì¿¡ ¼ö¼úÀ» °í·ÁÇصµ ´ÊÁö ¾ÊÀ» °Í °°½À´Ï´Ù.


[2020-5-27. ¾Öµ¶ÀÚ Áú¹®]

ÀÌÁØÇà ±³¼ö´Ô²²¼­ ÁֽŠ³»½Ã°æ quiz¿¡ ÀüÇüÀûÀÎ FAP ȯÀÚ°¡ ÀÖ¾ú½À´Ï´Ù (http://endotoday.com/endotoday/learning_05.html). ÀÏ´Ü adenomatous polyposis¶ó´Â Áø´Ü¸íÀ» ºÙ¿´´Âµ¥¿ä... "Familial"À̶ó´Â Ç¥ÇöÀ» °¡°è history¸¦ Á¶»çÇÏÁö ¾Ê°í ºÙÀÏ ¼ö ÀÖ´Â Áö ±Ã±ÝÇÕ´Ï´Ù.

[2020-5-27. ÀÌÁØÇà ´äº¯]

ÁÁÀº Áú¹®ÀÔ´Ï´Ù. ³»½Ã°æ ¼Ò°ß (´ëÀå adenoma >= 100, ½ÊÀÌÁöÀå flat adenoma, ampullary tumor, gastric fundic gland polyposis µî)ÀÌ ÀÖÀ¸¸é Áø´ÜÀº °ÅÀÇ È®½ÇÇÕ´Ï´Ù. ¿øÀÎÀº APC À¯ÀüÀÚÀÇ germline mutationÀÔ´Ï´Ù. 80%´Â °¡Á··ÂÀÌ ÀÖ°í 20%´Â ¾ø´Â sporadic caseÀÔ´Ï´Ù. °¡Á··ÂÀÌ ¾ø´õ¶óµµ ÀÏ´Ü È¯ÀÚ°¡ µÇ¸é (= germline APC gene mutationÀÌ »ý±â¸é) ÀڽĿ¡°Ô autosomal dominant·Î À¯ÀüµË´Ï´Ù. µû¶ó¼­ familialÀ̶ó´Â ¼ö½Ä¾î¸¦ ºÙÀ̴µ¥ Çϵ ¾î·Á¿òÀÌ ¾ø½À´Ï´Ù. Adenomatous polyposis¶ó´Â ¾Ö¸ÅÇÑ Ç¥Çöº¸´Ù´Â FAP¶ó´Â ¸í·áÇÑ Áø´Ü¸íÀ» ¾²½Ã±â ¹Ù¶ø´Ï´Ù. µ¹Á÷±¸¸¦ ³¯¸®¼¼¿ä.


[References]

1) EndoTODAY FAP - Familial adenomatous polyposis (FAP) °¡Á·¼º¼±Á¾¼º¿ëÁ¾Áõ

2) [Á¾¼³] Upper gastrointestinal lesions in patients with FAP (ÃÖÀÌ·É, ÀÌÁØÇà)

3) EndoTODAY À§Àú¼± ¿ëÁ¾°ú À§Àú¼± ¿ëÁ¾Áõ Fundic gland polyp and fundic gland polyposis

4) ¿ëÁ¾Áõ Æú¸³ÁõÈıº polyposis syndrome - ³»½Ã°æ¼¼¹Ì³ª °­ÀÇ·Ï. ÀÓÁ¾ÇÊ. PDF 0.7M

5) EndoTODAY À§ ¿ëÁ¾

6) [EndoATLAS] ÀüÇüÀûÀÎ single fundic gland polypÀÇ ³»½Ã°æ ¼Ò°ß

7) [EndoATLAS] Duodenal adenomas and fundic gland polyposis in FAP

8) Prevalence and endoscopic treatment outcomes of upper GI neoplasms in FAPSurg Endosc. 2022

9) MUTYH °ü·Ã Æú¸³Áõ MUTYH associated polyposis (2023³â 8¿ù ³»½Ã°æÇÐȸ ±³À°ÀÚ·á)

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