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[ColonTODAY 074 - HNPCC]

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대장암 가족력이 많은 (아버지, 어머니, 동생 등) 환자의 A colon 대장암이었습니다 (여성, 대장암 진단 당시 40대 초반). 질병의 이름에 non-polyposis가 붙어있지만 그래도 몇 개의 용종이 있는 경우가 많습니다. 이 환자에서도 대장암 이외에 6개의 용종이 있었습니다.

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)

유전자 검사에서 MSI-H (BAT 25: unstable, BAT 26: unstable, D5S346: unstable, D17S250: stable, D2S123: unstable)가 나왔고 MLH1 유전자의 frameshift mutation이 확인되었습니다.

대장암 수술 10년 후 위암도 발견되어 ESD를 하였습니다.

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

위암 수술 2년 후 십이지장의 SMT-like cancer가 발견되어 수술을 하였습니다.

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

[해설] HNPCC-associated cancer에는 대장암 이외에 자궁내막암 (lifetime risk 54%), 난소암 (lifetime risk 10-12%), 위암 (lifetime risk 13% or higher in Korea), 간담도암, 소장암, 신장암 등이 있습니다.

[Review - R4 김지유]

© 일원내시경교실 바른내시경연구소 이준행. EndoTODAY Endoscopy Learning Center. Lee Jun Haeng.