Journal of Pathology and Translational Medicine

Case Study

Gastric amphicrine carcinoma in the stomach: an unexpected presentation of MUTYH-associated polyposis: Seungkyun Lee, Byung-Hoon Min, Young-Gon Kim, Soomin Ahn, Kyoung-Mee Kim; Received April 17, 2026 Accepted June 24, 2026 Published online September 7, 2026; DOI: https://doi.org/10.4132/jptm.2026.06.24 [Epub ahead of print]

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Abstract PDF: Amphicrine carcinomas of the stomach, defined by dual exocrine and neuroendocrine differentiation within the same neoplastic cell, are exceedingly rare. MUTYH-associated polyposis (MAP) is an autosomal recessive polyposis syndrome characterized by multiple colorectal adenomas and variable upper gastrointestinal involvement; however, amphicrine carcinomas have not been previously documented in this setting. We report a gastric amphicrine carcinoma arising in the background of extensive fundic gland polyposis in a patient with MAP. Endoscopy revealed a 3.5-cm flat elevated lesion in the gastric fundus amid extensive fundic gland polyposis. Histologically, the tumor consisted of a single population of cells exhibiting combined glandular and neuroendocrine differentiation without zonal or biphasic architecture, and many of these cells demonstrated true amphicrine morphology. Immunohistochemistry confirmed co-expression of cytokeratin and the neuroendocrine markers chromogranin A and synaptophysin in the same cell population. Germline targeted next-generation sequencing identified biallelic MUTYH variants in trans (c.733C>T, p.Arg245Cys [likely pathogenic]; c.842C>T, p.Ala281Val [variant of uncertain significance]), supporting a diagnosis of MAP. To our knowledge, this is the first reported case of a gastric amphicrine carcinoma in a MAP patient, expanding the spectrum of MAP-associated upper gastrointestinal neoplasia and underscoring the importance of vigilant endoscopic surveillance in hereditary polyposis syndromes.

Original Article

Clinicopathologic Characteristics of Left-Sided Colon Cancers with High Microsatellite Instability.: Sang Kyum Kim, Junjeong Choi, Hyun Ki Kim, Young Nyun Park, Si Young Song, Hoguen Kim; Korean J Pathol. 2009;43(5):428-434.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.5.428

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BACKGROUND
High microsatellite instability (MSI-H) colorectal carcinomas (CRCs) with numerous mutations in the microsatellite sequence are characterized by a right-sided preponderance, frequent peritumoral and intratumoral lymphocytic infiltration, and frequent mucin production. However, no study has correlated anatomic site and type of genetic changes with clinicopathologic changes.
METHODS
We analyzed the histopathologic features of 135 MSI-H CRCs and compared them to 140 microsatellite stable (MSS) CRCs. Histopathologic changes in MSI-H were further analyzed according to anatomic sites and genetic changes.
RESULTS
MSI-H CRCs showed previously reported clinicopathologic findings; a right-sided preponderance, an increased number of mucinous carcinomas, and peritumoral lymphoid reactions (p<0.001 for each variable). Increased serum CEA levels showed an MSS CRC preponderance (p=0.013). We further analyzed the histologic differences between right- and left-sided MSI-H tumors. We found that MSI-H CRCs on both sides had similar clinicopathologic findings, except for higher tumor stage (p=0.048) and less frequent abnormal CEA levels in left-sided MSI-H tumors (p=0.027). We found that not all clinicopathologic features were different between hereditary nonpolyposis colorectal cancers (HNPCCs) and sporadic MSI-H CRCs.
CONCLUSIONS
These findings indicate that MSI-H CRCs of the left colon have similar clinicopathologic characteristics as right-sided MSI-H CRCs. We did not find any significant clinicopathological difference between HNPCCs and sporadic MSI-H CRCs.

Citations

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Fibroblast Growth Factor Receptor 1 Gene Copy Number and mRNA Expression in Primary Colorectal Cancer and Its Clinicopathologic Correlation
Yoonjin Kwak, Soo Kyung Nam, An Na Seo, Duck-Woo Kim, Sung-Bum Kang, Woo Ho Kim, Hye Seung Lee
Pathobiology.2015; 82(2): 76. CrossRef

Case Report

Familial Juvenile Polyposis.: Sun Hee Chang, Shi Nae Lee, Hea Soo Koo, Ok Kyung Kim, Sun Sub Jung, Eung Bum Park; Korean J Pathol. 1997;31(2):185-188.

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Abstract PDF: Familial juvenile polyposis is a rare intestinal polyposis characterized by the occurrence of multiple juvenile polyps in the gastrointestinal tract. We report a case of familial juvenile polyposis in a 17-year-old man with a review of the literature. This patient underwent total colectomy due to a 6 years history of rectal bleeding. Grossly, the colon showed 36 variable sized pedunculated polyps, measuring 2.5cm x 2cm from the largest size and 0.2cm x 0.2cm to the smallest size. Histologically, the polyps consisted of cystically dilated glands, lined by normal colonic epithelial cells, scattered in loose, edematous stroma containing inflammatory cell infiltration. There were no areas of tubular adenoma or malignancy in any of the polyp.

Original Articles

Development of Desmoid and Mesenteric Fibromas following Total Colectomy for Adenomatous Polyposis Coli in Gardner's syndrome.: Jung Hee Cho, Yong Il Kim; Korean J Pathol. 1989;23(4):465-469.

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Abstract PDF: We describe a case of polyposis coli, which was followed by development of desmoid in the rectus adbominis muscle and fibromas in the mesentery during an interval of two years. This case supports the hypothesis that, in Garder's syndrome, the traumatic injury by colectomy triggers an unusual fibrous proliferation in the peritoneal cavity and incision site under the possible genetic basis.

Gastroduodenal Adenomas and Carcinoma in Patients with Familial Polyposis Coli.: Seung Sook Lee, Woo Ho Kim, Yong Il Kim; Korean J Pathol. 1993;27(3):263-267.

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Abstract PDF: Gastric lesion in familial polyposis coli is commonly presented with fundic gland hyperplastic polyps, but duodenal and gastric adenomas together with their carcinomatous transformation have been rarely described in familial polyposis coli mostly by case reports. We present three cases of gastric adenomas in familial polyposis coli with one in synchronous development of gastric adenocarcinoma in Korea. All three cases had the family history related to familial polyosis coli and received proctocolectomy because of synchronous development of colonic adenocarcinoma. One patient developed gastric polyposis and adenocarcinoma 8 years after colectomy, and the remaining two presented with multiple polyps either in the stomach or duodenum synchronously at the time of the diagnosis of familial polyposis coli with colonic adenocarcinoma. None disclosed any evidence of Gardner's syndrome. We conclude that association of gastric adenomas in familial oplyposis coli is not uncommon and gastric adenoma-carcinoma sequence is an another important participating mechanism to understand the histogenesis of gastric carcinoma in Korea.

Case Report

Localized Pseudopolyposis of the Ascending Colon Associated with Granulomatous Colitis: A case report.: Jeong Ja Kwak, Kye Hyun Kwon, So Young Jin, Dong Wha Lee; Korean J Pathol. 1994;28(1):82-85.

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Abstract PDF: Pseudopolyps represent discrete areas of mucosal inflammation and regeneration that are seen in a variety of inflammatory bowel disease including ulcerative colitis and Crohn's disease. These polyps are typically short, measuring less than 1.5 cm in height. Rarely, localized giant pseudopolyposis can occur, i.e., a collection of larger inflammatory pseudopolyps giving rise to a mass lesion within the colon. The most serious problem concerned with pseudopolyposis is a confusion with carcinoma. We experienced a case of localized giant pseudopolyposis causing partial large bowel obstruction. Right hemicolectomy was done for a preoperative diagnosis of ascending colon carcinoma. The resected specimen contained a circumferential lesion, which was composed of numerous interconnecting cylindrical villi, measuring 12 cm in length and 3 cm in height. Microscopically, these polypoid lesions were inflammatory pseudopolyps. Several deep fissure-like ulcerations were noted with multifocal microabscess, lymphoid hyperplasia and an area of noncaseating granuloma.

Original Article

Gastrointestinal Polyposis in Koreans: A Nationwide Survey of Clinicopathologic Analysis of 112 Surgically Resected Cases.: Mee Soo Chang, Hoguen Kim, Woo Ho Kim, Chan Il Park, Eun Kyung Hong, Han Kyeom Kim, In Soo Suh, Byung Kee Kim, Ja June Jang, Woon Sub Han, Hyung Sik Shin, So Young Jin, Dae Young Kang, Yong Il Kim; Korean J Pathol. 1998;32(6):404-412.

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Abstract: Gastrointestinal polyposis (GIP) is a rare disease characterized by formation of the numerous polyps in the gastrointestinal tract and presenting several extraintestinal manifestations. Most of the diseases are transmitted in an autosomal dominant pattern. In Korea, the epidemiological study as well as the pathological analysis of the GIP is not well established. We therefore analysed 38 items of GIP using surgically resected specimens. The materials in this study were collected from the 12 institutions and case reports in Korean literature between 1980 and 1991. The clinicopathologic findings were reevaluated by several members of the study group for gastrointestinal pathology. The results are as follows: (1) A total of 112 cases were included in this study: 83 cases were collected from 12 institutions and 29 cases were collected from Korean literature. The cases were classified as familial adenomatous polyposis (FAP), 59 cases; Gardner's syndrome, 3 cases; juvenile polyposis, 12 cases; Peutz-Jeghers syndrome, 35 cases; multiple colonic adenomas, 3 cases. (2) Among 59 cases of FAP, the range of age at operation was 14 to 61 years, and a family history was positive in 25 cases. The number of polyps in colorectum was 100~8,000. Of the 37 cases in which the examination of polyp density was available, 16 cases (43%) showed the highest density in the rectum and the sigmoid colon. The carcinomatous change within polyp(s) was present in 18 cases (31%), and associated advanced single or multiple colonic carcinomas existed in 37 cases (63%). Twenty-six (45%) tumors out of total 58 carcinomas were in the rectum. Twenty-five patients were evaluated for the upper gastrointestinal lesions, and 11 patients (44%) had pathologic lesions; multiple fundic gland polyps in 3 cases (12%), gastric and duodenal adenomas in 2 cases (8%), gastric adenomas in 2 cases (8%), duodenal adenomas in 2 cases (8%), gastric carcinoma and adenoma in 1 case (4%), gastric carcinoma in 1 case (4%). (3) Among 3 cases of Gardner's syndrome, the range of age at operation was 25 to 31 years, a family history was identified in 2 cases. One case was associated with an advanced colonic carcinoma and carcinomatous change within polyp. Extra gastrointestinal lesions were sebaceous cyst, epidermal cyst, osteoma and desmoid tumor. (4) Among 12 juvenile polyposis, the range of age at operation was 8 to 51 years and 5 patients had a family history. The carcinomatous change within polyp was found in 2 cases (17%) and associated advanced colonic carcinoma was in 4 cases (33%). The associated different type of polyps was tubular adenomas in 9 cases (75%), hyperplastic polyps in 4 cases (33%) and villous adenomas in 2 cases (17%). (5) Among 35 Peutz-Jeghers syndrome, the range of age at first operation was 6 to 42 years, family history was positive in 11 cases. The carcinomatous change within polyp was found in 1 case (3%), and associated advanced colonic carcinoma in 1 case (3%). The epithelial misplacement was observed in 4 cases (11%), and tubular or villous adenomatous feature in 4 cases (11%). In summary, the most frequent GIP for the surgical resection in Korea is FAP and the FAP is associated with high incidence of coexisting advanced and intramucosal carcinomas. Hamartomatous polyposis syndromes, such as juvenile polyposis and Peutz-Jeghers syndrome are another frequent disease for the surgical resection and are also associated with an increased risk of cancer.

Case Report

Gastrointestinal Adenomatous Polyposis Associated with Small Cell Neuroendocrine Carcinoma of the Rectosigmoid: A case report.: Wan Seop Kim, Eun Kyung Hong, Kang Sik Kim, Kwang Soo Lee, Jung Dal Lee; Korean J Pathol. 1996;30(11):1040-1044.

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Abstract PDF: In adenomatous polyposis coli there are many colonic and extracolonic manifestations, and various combinations of these induce different clinical presentations and syndromes. We experienced a unique case of adenomatous polyposis of the large intestine and stomach in a 39-year-old man. In the colon, small cell neuroendocrine carcinoma rather than adenocarcinoma had developed, which did not contain adenomatous or carcinomatous foci. The adenomatous polyps in the colon were all small and sessile with no cancerous or precancerous change two years after the resection of the symptomatic gastric adenomas, even though the gastric adenomas were larger and showed dysplastic change. We think this case is another variant of adenomatous polyposis syndrome.

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