내시경집담회. EndoTODAY 이준행

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

[References]

1) SMC Endoscopy Unit 삼성서울병원 내시경실

2) SMC Monday GI conference 삼성서울병원 일원내시경교실 월요점심소화기집담회

3) SMC Thursday endoscopy conference 삼성서울병원 일원내시경교실 목요점심내시경집담회