Elsevier

The Journal of Pediatrics

Volume 128, Issue 2, February 1996, Pages 220-224
The Journal of Pediatrics

Pleuropulmonary blastoma: A marker for familial disease,☆☆,,★★

https://doi.org/10.1016/S0022-3476(96)70393-1Get rights and content

Abstract

OBJECTIVE: To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB). METHODS: Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible. RESULTS: In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations. CONCLUSIONS: The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases. (J PEDIATR 1996;128:220-4)

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.

Figure. Kindred diagrams of affected families.

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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      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

    ☆☆

    Supported by the Pine Tree Apple Tennis Classic Oncology Research Fund.

    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

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