Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISHReport as inadecuate




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BMC Cancer

, 6:4

First Online: 05 January 2006Received: 22 March 2005Accepted: 05 January 2006DOI: 10.1186-1471-2407-6-4

Cite this article as: Quilichini, B., Andre, N., Bouvier, C. et al. BMC Cancer 2006 6: 4. doi:10.1186-1471-2407-6-4

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.

AbbreviationsPPBPleuropulmonary blastoma

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2407-6-4 contains supplementary material, which is available to authorized users.

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