Pleuropulmonary blastoma: A marker for familial disease☆,☆☆,★,★★
Section snippets
METHODS
Cases of PPB were identified during a period from 1978 to 1994 through pathology records or clinical referrals (L.P.D., J.R.P.). The pathologic materials were reviewed by one of us (L.P.D.) with the exception of one case of cystic nephroma that was reviewed and confirmed by Dr. Bruce Beckwith, the central pathologist of the National Wilms Tumor Study. The pathologic findings of PPB has been described previously.1, 3 Kindreds were investigated when a first-, second-, or third-degree relative of
Patients and families
The Figure presents the kindred diagrams of the involved families and individual children with multiple disorders.
Karyotypes
Tumor and constitutional karyotypes from six affected family members and two nonfamilial cases of PPB are shown in Table I.
Preliminary evaluations of tumor suppressor gene p53 exons 5 to 9, tumor suppressor gene associated with Wilms tumor (11p13;WT1) exons 4 to 10, and the putative second Wilms tumor locus (11p15.5;WT2) revealed no
DISCUSSION
We describe nine children with PPB who have close family members, often children, with neoplastic disease, including other examples of PPB. We also describe three children with PPB who have other primary dysplastic or malignant disease: one child with PPB and medulloblastoma, and two children with PPB and contralateral congenital cystic adenomatoid malformation of the lung, one of whom also had intralobar nephroblastomatosis. These 12 cases have emerged from 45 cases of PPB that we have
Acknowledgements
We thank Diane Arthur, MD, Nancy Battaglia, David Becroft, MD, James Fuesner, MD, Leon Hicks, MD, Rodney Higgins, PhD, Mary Just, Carl Krill, Jr., MD, Barbara Kunz, MS, James Malone, BS, Robert Novak, MD, Karen Perks, Dennis Robertson, Les Robison, PhD, Susan Simonton, MD, Dave Slinger, Timothy Triche, MD, Jeré Wasko, the families of the patients with PPB, and the many data managers who assisted with the collection of information for this article.
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2021, Radiology Case ReportsCitation Excerpt :Solid tissue in type II and III PPB contains mixed blastematous and sarcomatous elements which is different from adult type pulmonary blastoma (contains malignant epithelial and mesenchymal tissue) In recent studies, the malignancy has been recognized as part of DICER1 syndrome or PPB familial tumor and dysplasia syndrome [1,4]. Around 66 % patients with the malignancy have heterozygous mutation in DICER1 gene located on chromosome 14q13.2 [5].
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From the Department of Hematology/Oncology, Children's Health Care, St. Paul, Minnesota; University of Texas M. D. Anderson Cancer Center, Houston, Texas; University of Minnesota Hospital, Minneapolis, Minnesota; Children's Hospital of the King's Daughters, Norfolk, Virginia; Fred Hutchinson Cancer Research Center, Seattle, Washington; University of California-San Diego, La Jolla, California; Lucile Salter Packard Children's Hospital at Stanford, Palo Alto, California; St. Jude Children's Research Hospital, Memphis, Tennessee; Texas Children's Hospital, Houston, Texas; University of Michigan Hospitals, Ann Arbor, Michigan; DeVos Children's Hospital at Butterworth, Grand Rapids, Michigan; Medical University of South Carolina, Charleston, South Carolina; and Barnes Hospital, St. Louis, Missouri
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Supported by the Pine Tree Apple Tennis Classic Oncology Research Fund.
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Reprint requests: John R. Priest, MD, Children's Health Care, 345 North Smith Ave., St. Paul, MN 55102.
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0022-3476/96/$5.00 + 0 9/20/69410