Pleuropulmonary blastoma: A marker for familial disease

Priest, John R.; Watterson, Jan; Strong, Louise C.; Huff, Vicki; Woods, William G.; Byrd, Rebecca L.; Friend, Stephen H.; Newsham, Irene; Amylon, Michael D.; Pappo, Alberto S.; Mahoney, Donald H.; Langston, Claire; Heyn, Ruth; Kohut, Gloria; Freyer, David R.; Bostrom, Bruce; Richardson, Mary S.; Barredo, Julio C.; Dehner, Louis P.

doi:10.1016/s0022-3476(96)70393-1

Cited by 210 publications

(148 citation statements)

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“…37,38 The fact that 11p13 containing WT1, and 11p15.5 containing WT2, are each lost in two of our patients, is even more relevant against the background of the association that has been reported between the occurrence of Wilms' tumors and pleuropulmonary blastomas in the literature. 8,10 Losses at 9p and 11p in pleuropulmonary blastomas had been found in only one other study. It should be noted, however, that only one previous study had employed CGH on one patient.…”

Section: Discussionmentioning

confidence: 89%

“…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%

“…The diseases found to be associated with pleuropulmonary blastoma included cystic lung disease, cystic nephromas, Wilms' tumors, sarcomas, medulloblastomas, thyroid neoplasias, malignant germ cell tumors, Hodgkin's disease, leukemia, and Langerhans cell histiocytosis. [8][9][10] Owing to the relative rarity of these tumors, little is known about their genetic basis. Cytogenetic studies have repeatedly reported trisomy of chromosome 8 or, more generally, gains of chromosome 8, in addition to complex genetic abnormalities.…”

mentioning

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: 89%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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

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“…24,25 Early and even recent reports 26,27 of ''rhabdomyosarcoma in lung cysts'' almost certainly are cases of cystic PPB progressing to advanced PPB. The elucidation of PPB as a cystic pulmonary malignancy of very young children [28][29][30] and the recognition of a constitutional/ familial syndrome in a substantial portion of PPB cases [31][32][33][34][35][36] allow a focused discussion on the risk of malignant early childhood cysts.…”

Section: Introductionmentioning

confidence: 99%

Pulmonary cysts in early childhood and the risk of malignancy

Priest

Williams

Hill

et al. 2008

Pediatric Pulmonology

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Summary. Surgery for congenital and early childhood lung cysts is often dictated by symptoms such as respiratory distress, infection or pneumothorax. Asymptomatic cysts present a therapeutic dilemma: surgical intervention and ''conservative'' observation have advocates. The risk of malignancy in such cysts is considered by some an indication for surgical intervention and is reviewed in this paper. Pleuropulmonary blastoma (PPB) is the most frequent malignancy associated with childhood lung cysts. Although rare, PPB occurs predictably in certain clinical and familial situations. This unique biology of PPB can inform the cyst management decision. The earliest manifestation of PPB is a malignant lung cyst in young children, clinically and radiographically indistinguishable from benign congenital lung cysts. Histopathologic examination differentiates cystic PPB from the benign cystic variants. Surgical excision of cystic PPB (with or without chemotherapy) cures approximately 85-90% of children. If not excised, cystic PPB evolves to cystic/solid or solid high-grade sarcoma (cure rate 45-60%) by age 2-6 years. Numerous reports of ''malignancy in a congenital lung cyst'' are now understood as the characteristic progression of cystic PPB. PPB is genetically determined in many cases. Detailed family history may reveal the hallmarks of PPB in the patient or young relatives: a unique constellation of diseases including lung cysts, cystic nephroma, childhood cancers, stromal sex-chord ovarian tumors, seminomas or dysgerminomas, intestinal polyps, thyroid hyperplasias, and hamartomas. Pneumothorax and multifocal/bilateral lung cysts also characterize PPB. These diagnoses predict that a lung cyst is more likely PPB than a benign congenital cyst. Patients fitting this pattern deserve histologic diagnosis. The genetic basis for this heritable syndrome is unknown but is being actively investigated.

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