AGGRESSIVE COLORECTAL SIGNET RING CELL CARCINOMA ARISING IN PEUTZ-JEGHERS SYNDROME - A RARE CASE OF MISSED SURVEILLANCE WITH SUCCESSFUL MULTIMODAL THERAPY

Sep 23, 2026

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Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder with mucocutaneous pigmentation and gastrointestinal hamartomatous polyps, carrying a markedly increased risk of malignancy. Signet ring cell carcinoma (SRCC) of the colon is exceptionally uncommon and highly aggressive. A 36-year-old Vietnamese male with known PJS presented with left iliac fossa pain; colonoscopy identified multiple polyps and a type 3 ulcerated sigmoid mass confirmed as SRCC. He underwent laparoscopic colectomy with stage IIIC disease, followed by 12 cycles of adjuvant FOLFOX4 chemotherapy, remaining disease-free at 14 months.

LanguageEnglish

CategoryHealthcare

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Abstract

Introduction

Case description

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Introduction/Background

Case description

AGGRESSIVE COLORECTAL SIGNET RING CELL CARCINOMA ARISING IN PEUTZ-JEGHERS SYNDROME: A RARE CASE OF MISSED SURVEILLANCE WITH SUCCESSFUL MULTIMODAL THERAPY Cuong Minh Hoang1,2, Yen Duong Hai3, Minh Nguyen Thi4, Hoang Duc Dong5 1 Department of Oncology, Thai Nguyen University of Medicine and Pharmacy, Thai Nguyen, Vietnam 2 Center for Oncology, Thai Nguyen National General Hospital, Thai Nguyen, Vietnam 3 Department of Pathology, Thai Nguyen National General Hospital, Thai Nguyen, Vietnam 4 Center for Diagnostic Imaging and Interventional Radiology, Thai Nguyen National General Hospital, Thai Nguyen, Vietnam 5 Department of Internal Medicine, Thai Nguyen University of Medicine and Pharmacy, Thai Nguyen, Vietnam Corresponding author’[s e-mail:](s e-mail: drhoang85@gmail.com)[ drhoang85@gmail.com](s e-mail: drhoang85@gmail.com) Received: 12/05/2025 Accepted: 26/05/2025 Published: 06/06/2025 Conflicts of Interests: The Authors declare that there are no competing interests. Patient Consent: Patients gave written informed consent prior to treatment and for the publication of their case details and any accompanying images. Acknowledgements: The authors would like to express their gratitude to Thai Nguyen General Hospital for providing patient information and assisting in completing this study. This article is licensed under a Commons Attribution Non-Commercial 4.0 License How to cite this article: Hoang Minh C, Duong Hai Y, Nguyen Thi M, Duc Dong H. Aggressive colorectal signet ring cell carcinoma arising in Peutz-Jeghers syndrome: a rare case of missed surveillance with successful multimodal therapy. EJCRIM 2025;12:doi:10. 12890/2025_005522 ABSTRACT Introduction: Peutz-Jeghers syndrome (PJS) is a rare hereditary condition characterised by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract, associated with a significantly increased risk of malignancies, particularly gastrointestinal cancers. Among these, signet ring cell carcinoma (SRCC) of the colon is extremely rare and highly aggressive. Case description: We reporta case of a 36-year-old Vietnamese male with a known history of PJS who presented with left iliac fossa pain. Acolonoscopy revealed multiple colonic polyps and a type 3 ulcerated mass in thesigmoid colon; histopathology confirmed SRCC. The patient underwent a laparoscopic colectomy and was diagnosed with stage IIIC (T4aN2bM0) colonic SRCC. He completed twelve cycles of adjuvant FOLFOX4 chemotherapy. Fourteen months post-surgery, he remains disease-free with excellent performance status. Conclusion: This case illustrates the unpredictable progression of colonic SRCC in patients with PJS, emphasising the need for close periodic surveillance. Accurate diagnosis and timely interventions, including surgery and chemotherapy, are essential for improving outcomes in these high-risk individuals. KEYWORDS Peutz-Jeghers syndrome, signet ring cell carcinoma, colorectal cancer, laparoscopic colectomy © EFIM 2025-European Journal of Case Reports in Internal Medicine-Doi: 10. 12890/2025_005522 LEARNING POINTS • People with Peutz-Jeghers syndrome (PJS) have a high risk of gastrointestinal cancers, including rare types such as signet ring cell carcinoma (SRCC). • Early screenings and regular follow-up are crucial in PJS patients for the timely detection and management of cancerous and precancerous growths, to avoid severe progression. • For colorectal SRCC in PJS patients, prompt surgery and chemotherapy could lead to positive outcomes. INTRODUCTION/BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterised by mucocutaneous pigmentation and multiple hamartomatous polyps throughout the gastrointestinal tract[1]. It is caused by STK11 tumour suppressor gene mutations andisassociated with a markedly increased risk of gastrointestinal and extra-gastrointestinal malignancies[2]. Among these, colorectal cancer is one of the

FAQs

What is Peutz-Jeghers syndrome and why does it matter for cancer risk?

Peutz-Jeghers syndrome is a rare autosomal dominant disorder with mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. It is associated with a significantly increased risk of gastrointestinal and extra-gastrointestinal malignancies.

How did the patient present and how was the diagnosis made?

The 36-year-old patient presented with left iliac fossa abdominal pain, altered bowel habits, and episodes of loose stools sometimes mixed with blood and mucus. Colonoscopy showed multiple colonic polyps and a type 3 ulcerated sigmoid mass, and histopathology confirmed signet ring cell carcinoma.

What treatment approach led to successful disease control in this case?

The patient underwent laparoscopic colectomy and was diagnosed with stage IIIC (T4aN2bM0) colon SRCC. He then completed 12 cycles of adjuvant FOLFOX4 chemotherapy and remained disease-free at 14 months.

Sep 23, 2026

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