Type II Pleuropulmonary Blastoma in a 4 Month Old Infant with Negative Dicer1 Mutation on Next Generation Sequencing
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 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...
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,...
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INTRODUCTION Pleuropulmonary blastoma is a very rare, aggressive, embryonal pulmonary neoplasm which mostly affects children under the age of 5. According to the histopathological features, three subtypes of pleuropulmonary blastoma have been recognized: type I (purely cystic), type II (grossly visible cystic and solid elements) and type III (purely solid). Characteristics of type I and type II...
متن کاملPleuropulmonary 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...
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ژورنال
عنوان ژورنال: Medical Archives
سال: 2021
ISSN: 0350-199X
DOI: 10.5455/medarh.2021.75.61-65