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Open Access Case report

Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

Benoit Quilichini1, Nicolas Andre25*, Corinne Bouvier3, Marie-Anne Chrestian3, Angelique Rome2, Dominique Intagliata1, Carole Coze2, Gabriel Lena4 and Helene Zattara1

Author Affiliations

1 Département de Génétique Médicale – Laboratoire de Cytogénétique Hémato-Oncologique, CHU – Hôpital d'Enfants « La Timone », Bd Jean Moulin, 13385 Marseille Cedex 5, France.

2 Département d'Oncologie Pédiatrique, CHU – Hôpital d'Enfants « La Timone », Bd Jean Moulin, 13385 Marseille Cedex 5, France.

3 Département d'Anatomopathologie, CHU – Hôpital d'Adultes « La Timone », Bd Jean Moulin, 13385 Marseille Cedex 5, France.

4 Département de Chirurgie Pédiatrique, CHU – Hôpital d'Enfants « La Timone », Bd Jean Moulin, 13385 Marseille Cedex 5, France.

5 FRE-Centre National de la Recherche Scientifique 2737, UFR de Pharmacie, Bd Jean Moulin, 13385 Marseille Cedex 5, France.

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BMC Cancer 2006, 6:4  doi:10.1186/1471-2407-6-4

Published: 5 January 2006

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

The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.