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[Thursday Endoscopy Conference 20170727]

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1. Duodenal cancer

2. FAP suspected by rare subtype of thyroid cancer

갑상선암으로 수술 후 대장 검사를 통하여 FAP로 확진된 환자입니다. 병리 결과는 아래와 같습니다.

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
β-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.

그 많은 갑상선암 환자 중 왜 이 환자만 FAP 검사를 했을까요? 갑상선암의 병리학적 특성 때문이었습니다. Cribriform-morular variant는 FAP와 동반되는 경우가 많다고 잘 알려진 병입니다. 이 환자는 병리과에서 FAP 가능성을 언급하였고, 내과에서 이를 확인한 경우입니다. 아래 문헌을 참고하시기 바랍니다.

*참고: 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, β-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 β-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.

[질문] Cribriform-morular variant인 thyroid papillary cancer에서는 FAP를 의심해야 하는 것은 잘 알겠습니다. 그렇다면 FAP 환자에서 발생하는 thyroid cancer 중 cribriform-morular variant의 비중은 어느 정도입니까?

[답변] FAP 환자의 갑상선암에 대한 최근 큰 규모의 연구 결과입니다 (J Clin Endocrinol Metab 2016). 11명 중 8명이 Cribriform-morular variant였습니다.

Results: Twenty-one patients (16.3%) had solid nodules, and 24 patients (18.6%) had benign cystic nodules. In total, PTC was found in 11 patients (16% of the women and 0%of the men), 8 of which were CMV-PTC and the rest were classical PTC. In 17 female patients with thyroid nodules, CMV-PTC occurred in 8 of 9 patients who were 35 years age or younger but in none of the 8 patients who were older than 35 (P .0004 by Fisher’s exact test). The APC germline mutations in 8 patients with CMV-PTC were present at the 5 side of the profuse type of FAP region (codons 1249-1330).
Conclusions: The prevalence of CMV-PTC in FAP patients was higher than previously reported and this type of tumor was found preferentially in younger (under age 35) female patients with FAP

* 참고: EndoTODAY 가족성 선종성 용종증 FAP

3. Rectal neuroendocrine tumor

4. Rectal cancer


1) SMC Endoscopy Unit 삼성서울병원 내시경실

2) SMC Monday GI conference 삼성서울병원 일원내시경교실 월요점심소화기집담회

3) SMC Thursday endoscopy conference 삼성서울병원 일원내시경교실 목요점심내시경집담회

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