Abstract
BackgroundPleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour.Cases presentationWe 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.ConclusionThe 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.
Highlights
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 Pleuropulmonary pneumoblastoma (PPB) at initial diagnosis and recurrence
We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and at recurrence
In order to carry out abnormal clone unidentified by conventional cytogenetic technique, molecular techniques were performed on nuclei by interphase FISH technique using chromosome 8 centromeric region probe
Summary
PPB is among the rarest pediatric malignancies. The outcome is unfavourable because of recurrence and/or metastases. In PPB, only one case of TP53 deletion was identified by molecular cytogenetic technique [20] but five cases showed a structural rearrangement on 17p [Additional file 1: cases n° 2, 4, 7, 11 and 18]. In these cases, TP53 status was not mentioned. No LOH of markers on 11p13 and 11p15 studies are published to date for PPB, Priest et al suggest a common genetic pathway among embryonal tumors involving chromosomal region 11p [10]. Furthers collegial studies, regrouping PPB cases as in the PPB Registry by Priest and colleagues [30], are required to identify specific chromosomal rearrangements providing a better understanding about the molecular pathogenesis of this aggressive tumor
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
