BACKGROUND: Cystic nephroma (CN) and pleuropulmonary blastoma (PPB) are rare tumors without any previously recognized familial association. METHODS: Two cases of CN and one case of PPB in three siblings are reported. RESULTS: A 27-month-old girl and a 31-month-old boy underwent nephrectomy for CN and are free of disease in the contralateral kidney 16 and 14 years later, respectively. Their 28-month-old sister underwent pleuropneumonectomy with postoperative chemotherapy for PPB and died of recurrent disease 9 months later. CONCLUSION: To the knowledge of the authors, these cases represent the first reported familial occurrence of CN and the second of CN and PPB among siblings. The inheritance of a germline mutation predisposing to the development of these tumors is postulated.
BACKGROUND:Cystic nephroma (CN) and pleuropulmonary blastoma (PPB) are rare tumors without any previously recognized familial association. METHODS: Two cases of CN and one case of PPB in three siblings are reported. RESULTS: A 27-month-old girl and a 31-month-old boy underwent nephrectomy for CN and are free of disease in the contralateral kidney 16 and 14 years later, respectively. Their 28-month-old sister underwent pleuropneumonectomy with postoperative chemotherapy for PPB and died of recurrent disease 9 months later. CONCLUSION: To the knowledge of the authors, these cases represent the first reported familial occurrence of CN and the second of CN and PPB among siblings. The inheritance of a germline mutation predisposing to the development of these tumors is postulated.
Authors: Mark Brenneman; Amanda Field; Jiandong Yang; Gretchen Williams; Leslie Doros; Christopher Rossi; Kris Ann Schultz; Avi Rosenberg; Jennifer Ivanovich; Joyce Turner; Heather Gordish-Dressman; Douglas Stewart; Weiying Yu; Anne Harris; Peter Schoettler; Paul Goodfellow; Louis Dehner; Yoav Messinger; D Ashley Hill Journal: F1000Res Date: 2015-07-10
Authors: Kris Ann P Schultz; Gretchen M Williams; Junne Kamihara; Douglas R Stewart; Anne K Harris; Andrew J Bauer; Joyce Turner; Rachana Shah; Katherine Schneider; Kami Wolfe Schneider; Ann Garrity Carr; Laura A Harney; Shari Baldinger; A Lindsay Frazier; Daniel Orbach; Dominik T Schneider; David Malkin; Louis P Dehner; Yoav H Messinger; D Ashley Hill Journal: Clin Cancer Res Date: 2018-01-17 Impact factor: 12.531
Authors: Kris Ann P Schultz; Anne Harris; Yoav Messinger; Susan Sencer; Shari Baldinger; Louis P Dehner; D Ashley Hill Journal: Fam Cancer Date: 2016-01 Impact factor: 2.375
Authors: Mariana M Cajaiba; Geetika Khanna; Ethan A Smith; Lan Gellert; Yueh-Yun Chi; Elizabeth A Mullen; Dana A Hill; James I Geller; Jeffrey S Dome; Elizabeth J Perlman Journal: Hum Pathol Date: 2015-10-28 Impact factor: 3.466