Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

Quilichini, Benoît; André, Nicolas; Bouvier, C; Chrestian, Marie-Anne; Rome, Angélique; Intagliata, Dominique; Coze, Carole; Léna, G.; Zattara, Hélène

doi:10.1186/1471-2407-6-4

Cited by 12 publications

(8 citation statements)

References 31 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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confidence: 99%

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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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confidence: 99%

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

et al. 2007

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“…Several cytogenetic studies have shown the detection of numerical and structural chromosomal abnormalities of 2 and 8 in isolated cases. 3,12 Thus, once the diagnosis of PPB is made, a thorough search for tumors should be initiated in the close relatives.…”

Section: Discussionmentioning

confidence: 99%

Pleuro-Pulmonary Blastoma: A Rare Cause of Pleural Effusion in a Young Girl

Rashid

Alam

Hasanat

et al. 2012

J. Bangladesh Coll. Phys.

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Pleuropulmonary blastoma (PPB) is a rare, primitive primary neoplasm of the thorax that affects children. We present a case of a girl of 11 years who was admitted in National Institute of Diseases of the Chest and Hospital (NIDCH) with the complaints of high grade continued fever and shortness of breath. Initial physical examination and chest radiograph was suggestive of left sided massive pleural effusion. Along with pleural effusion, chest CT depicted a large heterogeneous mass occupying most of the left hemithorax. Computed tomography and bone scintigraphy suggested the mass to have a primary pulmonary origin. Cytologically the lesion was consistent with pleuropulmonary blastoma. Due to pleural involvement and presence of large inoperable mass, we considered chemotherapy as the first modality of treatment prior to surgery and managed thereby. DOI: http://dx.doi.org/10.3329/jbcps.v30i3.12469 J Bangladesh Coll Phys Surg 2012; 30: 173-176

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“…In solid lesions, c-kit (CD117) positivity has been demonstrated in the spindle cells [27]. No consistent chromosomal alteration has been identified for PPB, although gain of chromosome 8q, trisomy 8, and loss of 17p are the most frequent abnormalities reported [19,[28][29][30][31][32][33][34][35][36][37][38].…”

Section: Drs Thora Steffensen and Enid Gilbert-barnessmentioning

confidence: 99%