Constitutional t(16;22)(p13.3;q11.2 approximately 12) in a primitive neuroectodermal tumor of the pineal region

Cancer Genet Cytogenet. 2003 Apr 1;142(1):73-6. doi: 10.1016/s0165-4608(02)00735-5.

Abstract

Constitutional chromosome anomalies are known to determine an increased risk of malignancy in certain disorders. We report the case of a 6-month-old female with a primitive neuroectodermal tumor (PNET) of the pineal region and a constitutional reciprocal translocation t(16;22)(p13.3;q11.2 approximately 12). The clustering of cancer chromosome breakpoints to specific chromosome regions is a well-documented phenomenon, with breakpoints on chromosome 22q11.2 approximately 12 having been identified in several subtypes of small round cell tumors. The finding of a 22q11.2 approximately 12 breakpoint in this patient suggests this constitutional translocation may somehow have predisposed the patient to the development of the tumor.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 22*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Neuroectodermal Tumors, Primitive / genetics*
  • Neuroectodermal Tumors, Primitive / pathology
  • Neuroectodermal Tumors, Primitive / surgery
  • Pineal Gland / pathology*
  • Pinealoma / genetics*
  • Pinealoma / pathology
  • Pinealoma / surgery
  • Translocation, Genetic*
  • Tumor Cells, Cultured