DICER1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome
نویسندگان
چکیده
منابع مشابه
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.
Pleuropulmonary blastoma (PPB) is a rare pediatric malignancy whose pathogens are poorly understood. Recent reports suggest that germline mutations in the microRNA-processing enzyme DICER1 may contribute to PPB development. To investigate the genetic basis of this cancer, we performed whole-exome sequencing or targeted deep sequencing of multiple cases of PPB. We found biallelic DICER1 mutation...
متن کاملBiallelic DICER1 mutations in sporadic pleuropulmonary blastoma Running title Biallelic DICER1 mutations in sporadic PPB
Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Laboratory of Sequence Data Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Division of Pediatric Hematology and Oncology, Ibaraki Children’s Hospital, Mito, Ibaraki, Japan; Department of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, Saitama,...
متن کاملMolecular and Cellular Pathobiology Biallelic DICER1 Mutations in Sporadic Pleuropulmonary Blastoma
Pleuropulmonary blastoma (PPB) is a rare pediatric malignancy whose pathogens are poorly understood. Recent reports suggest that germline mutations in the microRNA-processing enzyme DICER1 may contribute to PPB development. To investigate the genetic basis of this cancer, we performed whole-exome sequencing or targeted deep sequencing of multiple cases of PPB. We found biallelic DICER1 mutation...
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Pleuropulmonary Blastoma [PPB] is a very rare, highly aggressive and malignant tumor that originates from either the lungs or pleura. It occurs mainly in children aged less than five or six years. It has poor prognosis with three different subtypes: cystic [type I], combined cystic and solid [type II] and solid [type III]. PPB is treated with aggressive multimodal therapies including surgery an...
متن کاملType II- Pleuropulmonary Blastoma: A case report
Pleuropulmonary blastoma is a rare and aggressive neoplasm typically presents in young children, younger than 5 years, as a pulmonary and/or pleural-based tumor. We reported a case of type-II pleuropulmonary blastoma (PPB) in an 8 month old infant who presented to Al-Khansa'a Maternity Hospital in Western Mosul with a history of repeated attacks of shortness of breath and signs of pulmonary inf...
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ژورنال
عنوان ژورنال: Pathology Case Reviews
سال: 2014
ISSN: 1082-9784
DOI: 10.1097/pcr.0000000000000027