Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence
نویسندگان
چکیده
منابع مشابه
Nasal 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...
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چکیده ندارد.
Pleuropulmonary Blastoma in an Infant Presenting with Tension Pneumothorax
Pleuropulmonary blastoma is one of the rarest tumours occurring in childhood. The pathogenesis and therapeutic management of this condition remain controversial. We report the case of an 8-month-old girl with cystic pleuropulmonary blastoma (type 1), presenting with respiratory distress and a tension pneumothorax. The clinical and radiological aspects of the pleuropulmonary blastoma are also di...
متن کاملPleuropulmonary Blastoma in Children: A Case Report
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 کاملBiallelic 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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ژورنال
عنوان ژورنال: Pediatric Blood & Cancer
سال: 2020
ISSN: 1545-5009,1545-5017
DOI: 10.1002/pbc.28825