Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
| Autor: | Mutasim Abu-Hasan, Sara G. Hamad, Amal Al-Naimi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pulmonary and Respiratory Medicine
medicine.medical_specialty Lung RC705-779 medicine.diagnostic_test business.industry Congenital pulmonary airway malformation Case Report Pleuropulmonary blastoma respiratory system Malignancy medicine.disease respiratory tract diseases Diseases of the respiratory system medicine.anatomical_structure Biopsy medicine Lung tumor Radiology Differential diagnosis business Genetic testing |
| Zdroj: | Case Reports in Pulmonology Case Reports in Pulmonology, Vol 2021 (2021) |
| ISSN: | 2090-6854 2090-6846 |
| DOI: | 10.1155/2021/1983864 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|