Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Pulmonology |
| Online Access: | http://dx.doi.org/10.1155/2021/1983864 |
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| author | Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan |
| author_facet | Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan |
| author_sort | Sara G. Hamad |
| collection | DOAJ |
| description | Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis. |
| format | Article |
| id | doaj-art-19f2607042704f84b5d4aa5361dc0374 |
| institution | Kabale University |
| issn | 2090-6854 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pulmonology |
| spelling | doaj-art-19f2607042704f84b5d4aa5361dc03742025-02-03T01:25:49ZengWileyCase Reports in Pulmonology2090-68542021-01-01202110.1155/2021/1983864Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of QatarSara G. Hamad0Amal Al-Naimi1Mutasim Abu-Hasan2Pediatric PulmonologyPediatric PulmonologyPediatric PulmonologyPleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.http://dx.doi.org/10.1155/2021/1983864 |
| spellingShingle | Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar Case Reports in Pulmonology |
| title | Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar |
| title_full | Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar |
| title_fullStr | Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar |
| title_full_unstemmed | Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar |
| title_short | Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar |
| title_sort | pleuropulmonary blastoma ppb in child with dicer1 mutation the first case report in the state of qatar |
| url | http://dx.doi.org/10.1155/2021/1983864 |
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