Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder
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 کاملNasal chondromesenchymal hamartoma in an adolescent with pleuropulmonary blastoma.
Nasal chondromesenchymal hamartoma (NCMH) is an extremely rare benign lesion arising in the sino-nasal tract. They usually affect children below one year of age. The pathogenesis of these lesions is poorly understood however, they have been associated with pleuropulmonary blastoma (PPB). Although benign, malignant transformation has been reported in the literature. On literature review, we foun...
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...
متن کاملAn Unusual Case of Pleuropulmonary Blastoma in a Child with Jejunal Hamartomas
We report a rare case of 9-month-old girl who presented with a choking episode and was found to have an incidental finding of a lung cyst and iron deficiency anemia leading to the diagnosis of pleuropulmonary blastoma (PPB) and a jejunal hamartoma. Our patient is the eighth that has been reported with the association of PPB with jejunal hamartoma and the first one in the radiological literature...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2014
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-014-1474-9