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[HNPCC. Hereditary nonpolyposis colorectal cancer] - ðû

1. Review of HNPCC

2. Guidelines

3. Áõ·Ê ¸ðÀ½
- Áõ·Ê 1: ´ëÀå¾Ï, À§¾Ï, ¼ÒÀå¾ÏÀÌ ÇÑ È¯ÀÚ¿¡¼­ ¹ß°ß
- Áõ·Ê 2: HNPCC ȯÀÚ¿¡¼­ ¹ß°ßµÈ À§¾ÏÀÇ ³»½Ã°æ Ä¡·á
- Áõ·Ê 3: ´ëÀå¾Ï °¡Á··Â ¸¹¾Ò´ø HNPCC ȯÀÚÀÇ ¼ÒÀå¾Ï
- Áõ·Ê 4: HNPCC ´ëÀå¾ÏÀ¸·Î °æ°ú°üÂû Áß ¹ß°ßµÈ ½ÊÀÌÁöÀå ¾Ï

4. Multiple cancers in HNPCC

5. References


1. Review (2017³â)

40¼¼ ³²¼º. MSI-high


2. Guidelines

À¯·´¼ÒÈ­±â³»½Ã°æÇÐȸ¿¡¼­´Â HNPCC (Lynch syndrome)¿¡ ´ëÇÑ °¡À̵å¶óÀÎÀ» ¹ßÇ¥ÇÏ¿´½À´Ï´Ù (Endoscopy 2019).

ESGE recommends that individuals with Lynch syndrome should be followed in dedicated units that practice monitoring of compliance and endoscopic performance measures. (Strong recommendation, low quality evidence, level of agreement 100%)

ESGE recommends starting colonoscopy surveillance at the age of 25 years for MLH1 and MSH2 mutation carriers and at the age of 35 years for MSH6 and PMS2 mutation carriers. (Strong recommendation, moderate quality evidence, level of agreement 100%)

ESGE recommends the routine use of high-definition endoscopy systems in individuals with Lynch syndrome. (Strong recommendation, high quality evidence, level of agreement 100%)

ESGE suggests the use of chromoendoscopy may be of benefit in individuals with Lynch syndrome undergoing colonoscopy; however routine use must be balanced against costs, training, and practical considerations. (Weak recommendation, moderate quality evidence, level of agreement 89%)

ESGE recommends definition of familial risk of colorectal cancer as the presence of at least two first-degree relatives with colorectal cancer or at least one first-degree relative with colorectal cancer before the age of 50 years. (Strong recommendation, moderate quality evidence, level of agreement 92%)

ESGE recommends colonoscopy surveillance in first-degree relatives of colorectal cancer patients in families that fulfill the definition of familial risk of colorectal cancer. (Strong recommendation, moderate quality evidence, level of agreement 100%)

´ëÇÑÀ忬±¸ÇÐȸ¿¡¼­´Â À̹ø °¡À̵å¶óÀÎÀ» summaryÇÑ ±³À°ÀڷḦ ¹èÆ÷ÇÏ¿´½À´Ï´Ù. °¨»çÇÕ´Ï´Ù.

2019 KASID ±³À°ÀÚ·á


3-1. Áõ·Ê 1 - ´ëÀå¾Ï, À§¾Ï, ¼ÒÀå¾ÏÀÌ ÇÑ È¯ÀÚ¿¡¼­ ¹ß°ßµÇ¾ú´ø °æ¿ì (´ëÀå Áõ·Ê 074)

´ëÀå¾Ï °¡Á··ÂÀÌ ¸¹Àº (¾Æ¹öÁö, ¾î¸Ó´Ï, µ¿»ý µî) ȯÀÚÀÇ A colon ´ëÀå¾ÏÀ̾ú½À´Ï´Ù (¿©¼º, ´ëÀå¾Ï Áø´Ü ´ç½Ã 40´ë ÃʹÝ). Áúº´ÀÇ À̸§¿¡ non-polyposis°¡ ºÙ¾îÀÖÁö¸¸ ±×·¡µµ ¸î °³ÀÇ ¿ëÁ¾ÀÌ ÀÖ´Â °æ¿ì°¡ ¸¹½À´Ï´Ù. ÀÌ È¯ÀÚ¿¡¼­µµ ´ëÀå¾Ï ÀÌ¿Ü¿¡ 6°³ÀÇ ¿ëÁ¾ÀÌ ÀÖ¾ú½À´Ï´Ù.


Ascending colon, cecum, appendix, and terminal ileum, right, hemicolectomy:
Adenocarcinoma, moderately differentiated, cecum:
1) tumor size: 5x3.5 cm
2) extension to the pericolic adipose tissue
3) endolymphatic tumor emboli: present
4) focal mucin production and micropapillary pattern
5) negative resection margins (proximal, 10 cm; distal, 13.7 cm)
6) metastasis to 1 out of 33 regional lymph nodes, (1/33: "right colic A", 0/1; "mid colic", 0/3; pericolic, 1/29)
. Multiple tubular adenomas, high-grade dysplasia (x6)
. Appendix with no diagnostic abnormalities recognized
AJCC Pathologic Stage IIIB (T3, N1, MX)

À¯ÀüÀÚ °Ë»ç¿¡¼­ MSI-H (BAT 25: unstable, BAT 26: unstable, D5S346: unstable, D17S250: stable, D2S123: unstable)°¡ ³ª¿Ô°í MLH1 À¯ÀüÀÚÀÇ frameshift mutationÀÌ È®ÀεǾú½À´Ï´Ù.

´ëÀå¾Ï ¼ö¼ú 10³â ÈÄ À§¾Ïµµ ¹ß°ßµÇ¾î ESD¸¦ ÇÏ¿´½À´Ï´Ù.


Stomach, endoscopic submucosal dissection:
Early gastric carcinoma
1. Location :angle
2. Gross type : EGC type IIc
3. Histologic type : tubular adenocarcinoma, well differentiated
4. Histologic type by Lauren : intestinal
5. Size of carcinoma : (1) longest diameter, 16mm (2) vertical diameter,11 mm
6. Depth of invasion : invades mucosa (lamina propria) (pT1a)
7. Resection margin : free from carcinoma(N), safety margin : distal 11 mm, proximal 10 mm, anterior 16 mm, posterior 22 mm
8. Lymphatic invasion : not identified(N)
9. Venous invasion : not identified(N)
10. Perineural invasion : not identified(N)
11. Microscopic ulcer : absent
12. Histologic heterogeneity: absent

À§¾Ï ¼ö¼ú 2³â ÈÄ ½ÊÀÌÁöÀåÀÇ SMT-like cancer°¡ ¹ß°ßµÇ¾î ¼ö¼úÀ» ÇÏ¿´½À´Ï´Ù.


Duodenal Carcinoma
(1) Histologic type: Signet ring cell carcinoma with mucin production (60%)
(2) Histologic Grade: G3 (poorly differentiated)
(3) Precursor lesion: not applicable
(4) Invasive tumor size: greatest dimension (3cm)
(5) T4: Tumor directly invades pancreas and periduodenal soft tissue
(6) N1: Metastasis 2 out of 7 regional lymph nodes, (2/7: LN8, 0/1; LN12, 0/4; periduodenal, 2/2)
(7) cM0: Clinically No distant metastasis
(8) Involvement of portal vein: absent
(9) Margin status: Duodenal margin: negative (safety margin: 3 cm); Pancreas neck margin: negative
(10) Perineural and neural invasion: present
(11) Lymphovascular invasion: present
(12) Autolysis, gallbladder

[Çؼ³] HNPCC-associated cancer¿¡´Â ´ëÀå¾Ï ÀÌ¿Ü¿¡ Àڱ󻸷¾Ï (lifetime risk 54%), ³­¼Ò¾Ï (lifetime risk 10-12%), À§¾Ï (lifetime risk 13% or higher in Korea), °£´ãµµ¾Ï, ¼ÒÀå¾Ï, ½ÅÀå¾Ï µîÀÌ ÀÖ½À´Ï´Ù.


3-2. Case 2: HNPCC ȯÀÚ¿¡¼­ ¹ß°ßµÈ À§¾ÏÀÇ ³»½Ã°æ Ä¡·á

10¿©³â Àü ´ëÀå¾ÏÀ¸·Î ¼ö¼úÀ» ¹ÞÀ¸½Å HNPCC ȯÀÚ°¡ À§¾ÏÀÌ ¹ß°ßµÇ¾î ÀǷڵǾú½À´Ï´Ù. ÀϹÝÀûÀÎ ESD ÀûÀÀÁõ¿¡ ÇØ´çÇÏ¿© ½Ã¼úÀ» ÇÏ¿´°í ¾Æ·¡¿Í °°Àº °á°ú¿´½À´Ï´Ù.


ESD: Early gastric carcinoma ;
1. Location : angle, posterior wall
2. Gross type : EGC type IIc
3. Histologic type : tubular adenocarcinoma, moderately differentiated
4. Histologic type by Lauren : intestinal
5. Size of carcinoma : (1) longest diameter, 18 mm (2) vertical diameter, 12 mm
6. Depth of invasion : invades mucosa (muscularis mucosa) (pT1a)
7. Resection margin : free from carcinoma(N), safety margin : distal 12 mm, proximal 11 mm, anterior 14 mm, posterior 12 mm, deep 600 §­
8. Lymphatic invasion : not identified(N)
9. Venous invasion : not identified(N)
10. Perineural invasion : not identified(N)
11. Microscopic ulcer : absent
12. Histologic heterogeneity: absent

ÀϹÝÀûÀÎ HNPCC surveillance¸¦ ÇϽõµ·Ï ±ÇÇÏ¿´°í, À§¾Ï ESD ÈÄ ÃßÀû°üÂûÀº ´Ù¸¥ ȯÀÚ¿Í ºñ½ÁÇÏ°Ô ÇÏ·Á°í ÇÕ´Ï´Ù.


3-3. Case 03: ´ëÀå¾Ï °¡Á··Â ¸¹¾Ò´ø HNPCC ȯÀÚÀÇ ¼ÒÀå¾Ï

Small bowel enteroscopy ¼Ò°ß
Small intestine, segmental resection: Adenocarcinoma, moderately differentiated, jejunum:
1) tumor size: 6x3.5 cm
2) tumor invades subserosa (T3)
3) lymphovascular invasion: not identified
4) perineural invasion: not identified
5) negative resection margins
6) no metastasis in 15 regional lymph nodes (0/15: "lymph node", 0/14; peri-jejunal, 0/1)
<< Result of immunohistochemistry >>
MLH1: Stained in about 95 % of tumor cells
MSH2, MSH6: Stained in 0 % of tumor cells
p53: Stained in about 1-5 % of tumor cells
<< Addendum (M11-14973)>> Multiplex PCR and Analysis with 3130xl Genetic analyzer
NR27, NR21, BAT26, BAT25, NR24 : all unstable


3-4. Case 4: HNPCC ´ëÀå¾ÏÀ¸·Î °æ°ú°üÂû Áß ¹ß°ßµÈ ½ÊÀÌÁöÀå ¾Ï.

HNPCC¿¡¼­´Â ´ëÀå¾Ï ÀÌ¿ÜÀÇ ´Ù¸¥ ¸¹Àº Àå±âÀÇ ¾ÏÀÌ ¹ß°ßµÉ ¼ö ÀÖ½À´Ï´Ù. ¼ÒÀå¾Ïµµ ÀûÁö ¾ÊÀºµ¥¿ä... ¼ÒÀå¾Ï Áß¿¡¼­´Â duodenal cancer°¡ °¡Àå ÈçÇÕ´Ï´Ù. ÀÌ È¯ÀÚ¿¡¼­´Â 1ºÎ¿Í 2ºÎ °æ°èÀÎ SDA (superior duodenal angle) ¿¡¼­ ¾ÏÀÌ ¹ß»ýÇÏ¿´½À´Ï´Ù¸¸, À̺¸´Ù distal¿¡¼­µµ ¹ß»ýÇÒ ¼ö ÀÖ½À´Ï´Ù. Screening endoscopy¿¡¼­ °¡´ÉÇÏ¸é ½ÊÀÌÁöÀåÀ» ±í°Ô °üÂûÇϽñ⠹ٶø´Ï´Ù.

HNPCC¿¡¼­´Â Á¤¸» °Ë»çÇÒ ºÎÀ§°¡ ¸¹½À´Ï´Ù. ȯÀÚµéÀÌ Âü Èûµé °Í °°½À´Ï´Ù.


4. Multiple cancers in HNPCC

´ëÀå¾Ï, ´ëÀå¾Ï, ´ëÀå°íµµ¼±Á¾

´ëÀå¾Ï, À§¾Ï, ½ÊÀÌÁöÀå¾Ï

Àڱ󻸷¾Ï, À§¾Ï

´ëÀå¾Ï, ´ëÀå¾Ï, À§¾Ï, ½ÊÀÌÁöÀå °íµµ¼±Á¾, ³ú¾Ï

Àڱ󻸷¾Ï, ½ÊÀÌÁöÀå °íµµ¼±Á¾, ´ëÀå¾ÏÀ¸·Î ESD ÈÄ ¼ö¼ú


[References]

1) Æú¸³ÁõÈıº - ³»½Ã°æ¼¼¹Ì³ª °­ÀÇ·Ï. ¼­¿ï´ëÇб³ ÀÓÁ¾ÇÊ. PDF 0.7M

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