Fluorescence in situ hybridization (FISH) can identify trisomy 8, a common but non-specific abnormality in PPB. Trisomy 2, and p53 mutations/deletions have also been described. A number of papers have reported cytogenetic results on individual cases of PPB, and virtually all findings, such as Trisomy 8 (seen in 17/23 studied Registry and literature cases – unpublished Registry compilation), have been non-specific. [see PubMed or Google Scholar for further articles on this subject.]
The Registry encourages investigators to conduct and report special biologic and molecular studies of PPB.
Pathologists are asked to consider sending tissue to the PPB/DICER1 Registry Tissue Bank. For details, see Tissue Bank.