Small bowel carcinoma in young patient detected by double-balloon enteroscopy

Yoon Ji Choi1, Sung Woo Jung, Jun Won Um

  • 1Departments of Internal Medicine, Surgery and Pathology, Korea University College of Medicine, Seoul, Korea.

Insights

A young female patient with a family history of hereditary nonpolyposis colorectal carcinoma (HNPCC) was diagnosed with small bowel carcinoma. This case highlights a rare occurrence of early-onset small bowel cancer in individuals with genetic predispositions.

Area of Science:

  • Gastroenterology
  • Oncology
  • Genetics

Background:

  • Hereditary nonpolyposis colorectal carcinoma (HNPCC) significantly increases the risk of gastrointestinal cancers.
  • Small bowel carcinoma is a rare malignancy, particularly in adolescents.
  • Genetic predisposition plays a crucial role in the development of early-onset cancers.

Observation:

  • A 17-year-old female presented with melena and epigastric pain.
  • She had a maternal history of hereditary nonpolyposis colorectal carcinoma (HNPCC).
  • Diagnostic evaluation included double-balloon enteroscopy.

Findings:

  • The patient was diagnosed with small bowel carcinoma.
  • This represents a rare case of malignancy in a young patient.
  • The diagnosis was made despite the patient's young age.

Implications:

  • This case underscores the importance of considering rare diagnoses in young patients with relevant family histories.
  • Early detection and genetic counseling are vital for individuals with HNPCC.
  • Further research into the genetic factors contributing to early-onset small bowel cancer is warranted.