Familial Pleuropulmonary Blastoma in Australia

被引：13

作者：

Cross, Siobhan F. ^{[1
]}

Arbuckle, Susan ^{[2
]}

Priest, John R. ^{[3
]}

Marshall, Glenn ^{[4
]}

Charles, Adrian ^{[5
]}

Dalla Pozza, Luciano ^{[1
]}

机构：

[1] Childrens Hosp Westmead, Dept Oncol, Sydney, NSW, Australia

[2] Childrens Hosp Westmead, Dept Anat Pathol, Sydney, NSW, Australia

[3] Childrens Hosp & Clin Minnesota, Int Pleuropulm Blastoma Registry, Minneapolis, MN USA

[4] Sydney Childrens Hosp, Ctr Childrens Canc & Blood Disorders, Sydney, NSW, Australia

[5] Pathw Princess Margaret Hosp, Perth, WA, Australia

来源：

PEDIATRIC BLOOD & CANCER | 2010年 / 55卷 / 07期

关键词：

cystic nephroma DICER1; hereditary medullo epithelioma neoplastic syndromes; pleuropulmonary blastoma; rhabdomyosarcoma; Sertoli-Leydig tumor; CHILDHOOD;

D O I：

10.1002/pbc.22592

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We present three cases of pleuropulmonary blastoma (PPB) in Australian children Each had a family history of childhood tumors which collectively included PPB infant lung cyst, cystic nephroma medullo epithelioma and a Sertoli-Leydig ovarian tumor Two of the patients also had additional malignancies a concurrent bladder rhab domyosarcoma and a post therapy non PPB malignant lung tumor In two cases the family histories were elicited years after the PPB diagnosis Archived pathology material allowed revision of pathologic diagnoses from decades earlier These cases illustrate the importance of detailed inquiry into family medical history and the pleiotropy of the PPB related familial cancer predisposition syndrome which appears to result from heterozygous DICER1 mutations Pediatr Blood Cancer 2010 55 1417-1419 (C) 2010 Wiley Liss Inc

引用

页码：1417 / 1419

页数：3

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