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Aggressive Colorectal Signet Ring Cell Carcinoma Arising in Peutz-Jeghers Syndrome: A Rare Case of Missed Surveillance with Successful Multimodal Therapy

  • 0Department of Oncology, Thai Nguyen University of Medicine and Pharmacy, Thai Nguyen, Vietnam.
European Journal of Case Reports in Internal Medicine +

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July 10, 2025

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July 10, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Peutz-Jeghers syndrome (PJS) patients face a high risk of aggressive colon cancers like signet ring cell carcinoma (SRCC). Early surveillance, diagnosis, and prompt treatment including surgery and chemotherapy are vital for improved outcomes.

Area Of Science

  • Gastroenterology and Oncology
  • Hereditary Cancer Syndromes

Background

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps.
  • PJS significantly increases the risk of various malignancies, especially gastrointestinal cancers.
  • Signet ring cell carcinoma (SRCC) of the colon is an exceptionally rare and aggressive malignancy within this context.

Purpose Of The Study

  • To report a case of colonic signet ring cell carcinoma (SRCC) in a patient with Peutz-Jeghers syndrome (PJS).
  • To highlight the importance of vigilant surveillance and timely intervention in PJS patients at high risk for gastrointestinal cancers.

Main Methods

  • Case report of a 36-year-old male with known PJS presenting with abdominal pain.
  • Diagnostic procedures included colonoscopy with biopsy and histopathological confirmation of SRCC.
  • Treatment involved laparoscopic colectomy followed by adjuvant FOLFOX4 chemotherapy.

Main Results

  • The patient was diagnosed with stage IIIC (T4aN2bM0) colonic SRCC.
  • Following surgery and chemotherapy, the patient remained disease-free for 14 months with good performance status.

Conclusions

  • Colonic SRCC in PJS patients can exhibit unpredictable progression, underscoring the necessity for rigorous surveillance protocols.
  • Prompt diagnosis, surgical resection, and adjuvant chemotherapy are critical for managing colonic SRCC in PJS patients and improving survival rates.

Keywords:

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