Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.
BACKGROUND
Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour.


METHODS
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.


CONCLUSIONS
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.
Quilichini
Benoit
B
Département de Génétique Médicale, CHU-Hôpital d'Enfants La Timone, Bd Jean Moulin, 13385 Marseille Cedex 5, France. Benoit.Quilichini@ap-hm.fr
Andre
Nicolas
N
Bouvier
Corinne
C
Chrestian
Marie-Anne
MA
Rome
Angelique
A
Intagliata
Dominique
D
Coze
Carole
C
Lena
Gabriel
G
Zattara
Helene
H
D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D008297:Male; D009364:Neoplasm Recurrence, Local; D011379:Prognosis; D018202:Pulmonary Blastoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy