# Curative resection via right hemicolectomy and regional lymph node dissection for colonic adenomatous polyposis of unknown etiology with adenocarcinomas localized in the right side of the colon: a case report

**Authors:** Shu Aoyama, Akira Inoue, Yoshinori Kagawa, Takamichi Komori, Yuki Ozato, Yujiro Nishizawa, Tomoki Sugimoto, Hisateru Komatsu, Masashi Hirota, Yasuhiro Miyazaki, Akira Tomokuni, Masaaki Motoori, Hiroaki Fushimi, Gou Yamamoto, Kiwamu Akagi, Kazuhiro Iwase, Kazumasa Fujitani

PMC · DOI: 10.1186/s40792-024-01890-1 · 2024-04-22

## TL;DR

A 72-year-old woman with unknown cause colon polyps and cancer was successfully treated with surgery, despite no genetic cause being found.

## Contribution

A rare case of localized colonic adenomatous polyposis of unknown etiology with multiple cancers successfully treated via hemicolectomy.

## Key findings

- Right hemicolectomy and lymph node dissection successfully treated localized polyposis and cancer without recurrence.
- No pathogenic germline variants were identified despite comprehensive genetic testing.
- Segmental colectomy may be a curative option for localized polyposis of unknown etiology.

## Abstract

APC and MUTYH are both well-known colorectal polyposis causative genes. However, 30–50% of colorectal adenomatous polyposis cases are classified as colonic adenomatous polyposis of unknown etiology and lack identifiable pathogenic variants. Although guidelines recommend total proctocolectomy for colonic adenomatous polyposis of unknown etiology with over 100 adenomas, evidence is lacking. This study presents a unique case of localized colonic adenomatous polyposis of unknown etiology with multiple adenocarcinomas, treated with hemicolectomy and regional lymph node dissection.

The patient was a 72-year-old woman whose colonoscopy revealed numerous polyps and two adenocarcinomas localized in the right side of the colon, with no lesions in the left side. The patient had no family history of polyposis or colorectal cancer. No extracolonic lesions, enlarged lymph nodes, or distant metastases were found. Considering the patient’s age and lesion localization, laparoscopic right hemicolectomy with regional lymph node dissection was performed. Histopathological diagnosis revealed three adenocarcinoma lesions with no lymph node metastasis. The most advanced pathological stage was T2N0M0 Stage I (UICC 8th edition). The patient was alive 5 years postoperatively, without recurrence of cancer or polyposis in the remaining colon and rectum. To diagnose hereditary colorectal cancer/polyposis, a germline multigene panel testing for APC, EPCAM, MBD4, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, and TP53 was performed using DNA extracted from blood samples: however, no pathogenic variant was detected. Therefore, the patient was diagnosed with colonic adenomatous polyposis of unknown etiology.

In this rare case, colonic adenomatous polyposis of unknown etiology, with numerous adenomatous polyps and multiple adenocarcinomas localized in the right side of the colon, was successfully treated with right hemicolectomy and regional lymph node dissection. Despite genetic analysis, no causative germline variants were identified. Segmental colectomy according to the distribution of polyps might be a curative approach.

## Linked entities

- **Genes:** APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324], MUTYH (mutY DNA glycosylase) [NCBI Gene 4595], EPCAM (epithelial cell adhesion molecule) [NCBI Gene 4072], MBD4 (methyl-CpG binding domain 4, DNA glycosylase) [NCBI Gene 8930], MLH1 (mutL homolog 1) [NCBI Gene 4292], MLH3 (mutL homolog 3) [NCBI Gene 27030], MSH2 (mutS homolog 2) [NCBI Gene 4436], MSH3 (mutS homolog 3) [NCBI Gene 4437], MSH6 (mutS homolog 6) [NCBI Gene 2956], NTHL1 (nth like DNA glycosylase 1) [NCBI Gene 4913], PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395], POLD1 (DNA polymerase delta 1, catalytic subunit) [NCBI Gene 5424], POLE (DNA polymerase epsilon, catalytic subunit) [NCBI Gene 5426], TP53 (tumor protein p53) [NCBI Gene 7157]
- **Diseases:** colorectal adenomatous polyposis (MONDO:0021055), adenocarcinoma (MONDO:0004970)

## Full-text entities

- **Genes:** APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324] {aka BTPS2, DESMD, DP2, DP2.5, DP3, GS}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, NTHL1 (nth like DNA glycosylase 1) [NCBI Gene 4913] {aka FAP3, NTH1, OCTS3, hNTH1}, POLD1 (DNA polymerase delta 1, catalytic subunit) [NCBI Gene 5424] {aka CDC2, CRCS10, IMD120, MDPL, POLD}, MBD4 (methyl-CpG binding domain 4, DNA glycosylase) [NCBI Gene 8930] {aka MED1, TPDS2, UVM1}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, MUTYH (mutY DNA glycosylase) [NCBI Gene 4595] {aka MYH}, EPCAM (epithelial cell adhesion molecule) [NCBI Gene 4072] {aka Ber-Ep4, BerEp4, DIAR5, EGP-2, EGP314, EGP40}, MLH3 (mutL homolog 3) [NCBI Gene 27030] {aka HNPCC7}, PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, MSH3 (mutS homolog 3) [NCBI Gene 4437] {aka DUP, FAP4, MRP1}
- **Diseases:** colorectal cancer (MESH:D015179), adenomas (MESH:D000236), adenomatous polyps (MESH:D018256), colorectal adenomatous polyposis (MESH:C563924), lymph node metastasis (MESH:D008207), polyposis (MESH:D044483), polyps (MESH:D011127), metastases (MESH:D009362), adenocarcinoma lesions (MESH:D000230), cancer (MESH:D009369), colonic adenomatous polyposis (MESH:D011125)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11035501/full.md

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Source: https://tomesphere.com/paper/PMC11035501