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.
Sawyer
Jeffrey R
JR
Department of Pathology, Cytogenetics Laboratory, Arkansas Children's Hospital, 800 Marshall Street, Little Rock, AR 72202, USA. sawyerjeffreyr@uams.edu
Sammartino
Gael
G
Husain
Muhammad
M
Linskey
Mark E
ME
D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010870:Pineal Gland / Q000473:pathology*; D010871:Pinealoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured