Gains of Chromosome 8 in Pleuropulmonary Blastomas of Childhood

Sebire, Neil J.; Rampling, D.; Malone, Marian; Ramsay, Alan D.; Sheppard, Mary N.

doi:10.1007/s10024-001-0249-1

Cited by 14 publications

(9 citation statements)

References 3 publications

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“…The most consistent chromosomal anomaly is extra copies of chromosome 8, which has been found in many studies, approximating 75-80% of all cases studied. [10][11][12][13][14][15][16][17][18][19] A single case study has thus far been performed with CGH, also showing gain of almost the entire chromosome 8. 21 In our study, we confirm these findings by showing gain of at least the long arm of chromosome 8 in four of the five cases studied.…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetic studies have repeatedly reported trisomy of chromosome 8 or, more generally, gains of chromosome 8, in addition to complex genetic abnormalities. [10][11][12][13][14][15][16][17][18][19] Furthermore, trisomy of chromosome 2 has been reported by fluorescence in situ hybridization (FISH). 20 However, altogether these studies have investigated no more than 17 cases of pleuropulmonary blastoma.…”

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Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

et al. 2007

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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.

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Section: Discussionmentioning

confidence: 99%

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Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

et al. 2007

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“…The only case without detectable gain of chromosome 8 material showed a rearrangement involving this chromosome and resulted in loss of the short arm [14]. Interphase fluorescence in situ hybridization performed in 4 additional patients revealed gains of chromosome 8 in all of them [16]. Therefore, gain of chromosome 8 material is a highly prevalent finding in PPB, most times occurring as trisomy, but with tetrasomy of the long arm also being frequent.…”

Section: Discussionmentioning

confidence: 99%

Pleuropulmonary Blastoma: Cytogenetic and Spectral Karyotype Analysis

et al. 2006

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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.

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“…Some findings, however, appear to be relatively consistent; for instance, the presence of trisomies 8 and 2 has been documented in several studies. [60][61][62][63][64] In some of these studies, both anomalies have been detected in the same tumor. More recently, Kusafuka and associates 65 documented the presence of p53 mutations in two of three cases of pleuropulmonary blastoma.…”

Section: Immunohistochemical and Molecular Featuresmentioning

confidence: 96%

Biphasic Tumors of the Lung

2010

Tumors and Tumor-Like Conditions of the Lung and Pleura

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Gains of Chromosome 8 in Pleuropulmonary Blastomas of Childhood

Cited by 14 publications

References 3 publications

Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

Pleuropulmonary Blastoma: Cytogenetic and Spectral Karyotype Analysis

Biphasic Tumors of the Lung

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