Adenocarcinoma of the rectum in a 13-year-old girl with Turner syndrome

J Pediatr Hematol Oncol. 2011 May;33(4):320-2. doi: 10.1097/MPH.0b013e3181e4140d.

Abstract

We describe a 13-year-old girl with short stature and delayed puberty who presented with hematochezia and recurrent abdominal pain for 1 year, and progressive weight loss for 6 months. Per rectal examination was suggestive of a rectal mass. Histopathologic evaluation of the proctoscopy-guided biopsy specimen showed rectal adenocarcinoma. Computerized tomography of the abdomen showed hepatic metastases, which was confirmed by fine-needle aspiration cytology of the liver. She also had perirectal, aortocaval, para-aotic, mesenteric, and gastrohepatic ligament lymph node enlargement. GTG-banded chromosomal analysis showed a karyotype of 45, X, confirming Turner syndrome. A brief review of the neoplasms described in literature in association with Turner syndrome, and the possible pathogenetic mechanisms are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / diagnostic imaging
  • Abdominal Pain / etiology
  • Abdominal Pain / pathology
  • Adenocarcinoma / complications*
  • Adenocarcinoma / diagnostic imaging
  • Adenocarcinoma / pathology
  • Adolescent
  • Biopsy
  • Female
  • Humans
  • Rectal Neoplasms / complications*
  • Rectal Neoplasms / diagnostic imaging
  • Rectal Neoplasms / pathology
  • Tomography, X-Ray Computed
  • Turner Syndrome / complications*