TY - JOUR
T1 - Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma
AU - de Krijger, Ronald R
AU - Claessen, Sandra M H
AU - van der Ham, Frieda
AU - van Unnik, Ad J M
AU - Hulsbergen-van de Kaa, Christina A
AU - van Leuven, Leen
AU - van Noesel, Max
AU - Speel, Ernst J M
PY - 2007/9
Y1 - 2007/9
N2 - Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33-34, 11q22.2-ter, 15q25-ter, and 19q11-13.2. The most frequent DNA gains involved 8q11-22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21-24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.
AB - Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33-34, 11q22.2-ter, 15q25-ter, and 19q11-13.2. The most frequent DNA gains involved 8q11-22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21-24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.
KW - Child, Preschool
KW - Chromosome Aberrations
KW - Chromosomes, Human, Pair 8/genetics
KW - Female
KW - Humans
KW - Image Processing, Computer-Assisted
KW - Immunohistochemistry
KW - In Situ Hybridization, Fluorescence
KW - Infant
KW - Lung Neoplasms/genetics
KW - Male
KW - Pleural Neoplasms/genetics
KW - Pulmonary Blastoma/genetics
U2 - 10.1038/modpathol.3800953
DO - 10.1038/modpathol.3800953
M3 - Article
C2 - 17873899
SN - 0893-3952
VL - 20
SP - 1191
EP - 1199
JO - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
IS - 11
ER -