Abstract
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.
Highlights
Congenital cystic lung lesions are a group of lung diseases which represent variable pathology ranging from benign congenital malformation to neoplasm
Pleuropulmonary blastoma (PPB) is an extremely rare and potentially serious subtype of neoplastic cystic lung lesions, which can be misdiagnosed as a benign congenial cystic lesion
We report the clinical presentation and outcome of the first case of PPB in the state of Qatar with identified DICER1 gene
Summary
Congenital cystic lung lesions are a group of lung diseases which represent variable pathology ranging from benign congenital malformation to neoplasm. These lesions can present with an overlapping clinical and radiological features. Several classifications have been proposed based on the radiological and pathological features [1]. PPB has strong genetic association with mutations in DICER1 gene. The identification of such mutation in patients with cystic lung lesion can help with diagnosis and guide management. We report the clinical presentation and outcome of the first case of PPB in the state of Qatar with identified DICER1 gene
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