TY - JOUR
T1 - Pleuropulmonary blastoma
T2 - Cytogenetic and spectral karyotype analysis
AU - Taube, Janis M.
AU - Griffin, Constance A.
AU - Yonescu, Raluca
AU - Morsberger, Laura
AU - Argani, Pedram
AU - Askin, Frederic B.
AU - Batista, Denise A.S.
PY - 2006/11
Y1 - 2006/11
N2 - Pleuropulmonary blastoma (PPB) is a rare neoplasm of the pleuropulmonary mesenchyme. The molecular mechanisms underlying the genesis of this tumor are of particular interest as a large number of affected patients as well as their relatives have concurrent disease including additional dysplasia or neoplasia. To date, detailed karyotypes have been published on a limited number of cases. We report clinical, pathologic, and cytogenetic data in 2 cases of PPB including spectral karyotyping in 1 of them. Additionally, we conducted a review of the literature and compiled 15 published karyotypes of this tumor. Gain of chromosome 8 material was a highly prevalent finding in PPB, most times occurring as trisomy, but tetrasomy of the long arm was also frequent. Other occurring abnormalities, in order of observed frequency, included loss of 17p, loss of chromosome 10 or 10q, rearrangement of 11p, loss of chromosome X or Xp, gain of chromosomes/arms 1q, 2, and 7q, and loss of 6q and 18p. Loss of 10q has not been previously emphasized in PPB. The significance of these chromosome findings is discussed in relation to tumorigenesis.
AB - Pleuropulmonary blastoma (PPB) is a rare neoplasm of the pleuropulmonary mesenchyme. The molecular mechanisms underlying the genesis of this tumor are of particular interest as a large number of affected patients as well as their relatives have concurrent disease including additional dysplasia or neoplasia. To date, detailed karyotypes have been published on a limited number of cases. We report clinical, pathologic, and cytogenetic data in 2 cases of PPB including spectral karyotyping in 1 of them. Additionally, we conducted a review of the literature and compiled 15 published karyotypes of this tumor. Gain of chromosome 8 material was a highly prevalent finding in PPB, most times occurring as trisomy, but tetrasomy of the long arm was also frequent. Other occurring abnormalities, in order of observed frequency, included loss of 17p, loss of chromosome 10 or 10q, rearrangement of 11p, loss of chromosome X or Xp, gain of chromosomes/arms 1q, 2, and 7q, and loss of 6q and 18p. Loss of 10q has not been previously emphasized in PPB. The significance of these chromosome findings is discussed in relation to tumorigenesis.
KW - Histology
KW - Karyotype
KW - Pleuropulmonary blastoma
KW - SKY analysis
KW - Spectral karyotyping
KW - Trisomy
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U2 - 10.2350/06-02-0044.1
DO - 10.2350/06-02-0044.1
M3 - Article
C2 - 17163790
AN - SCOPUS:33845931097
SN - 1093-5266
VL - 9
SP - 453
EP - 461
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
IS - 6
ER -