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

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.