Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma

Pleuropulmonary blastoma (PPB) is a rare, malignant intrathoracic pediatric tumor. It arises from the lung, pleura, or mediastinum and its pathogenesi s and relationship to other pediatric solid tumors is not well understood. In this study, a case of PPB in a 3-year-old girl was studied using a combi nation of molecular genetic methods and cytogenetics. Molecular analysis of the commonly encountered fusion translocation gene products of pediatric s olid tumors failed to detect a rearrangement. Cytogenetic analysis, supplem ented by multicolor spectral karyotyping (SKY), identified an unbalanced tr anslocation between chromosomes 1 and X, resulting in additional copies of Iq, an extra copy of Xq, and loss of part of Xp. In addition, trisomy 8 was detected. The identification of new chromosomal alterations and confirmati on of previously reported ones in this rare neoplasm helps to improve our u nderstanding of its pathogenesis and association with other pediatric tumor s.