TY - JOUR
T1 - Pleuropulmonary blastoma
T2 - A marker for familial disease
AU - Priest, J. R.
AU - Watterson, J.
AU - Strong, L.
AU - Huff, V.
AU - Woods, W. G.
AU - Byrd, R. L.
AU - Friend, S. H.
AU - Newsham, I.
AU - Amylon, M. D.
AU - Pappo, A.
AU - Mahoney, D. H.
AU - Langston, C.
AU - Heyn, R.
AU - Kohut, G.
AU - Freyer, D. R.
AU - Bostrom, B.
AU - Richardson, M. S.
AU - Barredo, J.
AU - Dehner, L. P.
N1 - Funding Information:
Supported by the Pine Tree Apple Tennis Classic Oncology Research Fund.
PY - 1996
Y1 - 1996
N2 - Objective: To catalog and evaluate patterns at 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.
AB - Objective: To catalog and evaluate patterns at 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.
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U2 - 10.1016/S0022-3476(96)70393-1
DO - 10.1016/S0022-3476(96)70393-1
M3 - Article
C2 - 8636815
AN - SCOPUS:0030063355
SN - 0022-3476
VL - 128
SP - 220
EP - 224
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 2
ER -