Constitutional de novo t(1;22)(p22;q11.2) and ependymoma.

ABSTRACT

There is a body of evidence suggesting the presence of a tumor suppressor gene on chromosome 22 which plays a role in the pathogenesis of ependymomas. We report a patient with a de novo constitutional t(1;22)(p22;q11.2) who developed a malignant ependymoma at age 5. The patient is otherwise phenotypically normal. By fluorescence in situ hybridization (FISH) analysis, the chromosome 22 breakpoint has been localized to the region between the DiGeorge locus and BCR. Since NF2 and EWS are both distal to BCR, the are presumable not involved in this rearrangement. This patient may offer a unique opportunity to identify the chromosome 22 ependymoma tumor suppressor gene by cloning the translocation breakpoint.