Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.

ABSTRACT:

Background

Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour.

Cases presentation

We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB.

Conclusion

SUBMITTER: Quilichini B 

PROVIDER: S-EPMC1361803 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature