CRP17 PLEUROPULMONARY BLASTOMA IN A YOUNG CHILD: A RARE AND AGGRESSIVE PAEDIATRIC NEOPLASM

Nur Shuhadah Binti Mohamad Sharipudin1, Kah Peng Eg1,2, Jessie de Bruyne2, Shih Ying H’ng2, Yan Yi Neo2, Jen Chun Foo1,2, Syaza Zafirah Rahman1,2, Wei Sheng Tan2, Yew Wei Tan1,2, Anand Sanmugam1,2, Anna Marie Nathan1,2
1Universiti Malaya, Kuala Lumpur, Malaysia
2Universiti Malaya Medical Centre, Kuala Lumpur, Malaysia

Background
Pleuropulmonary blastoma (PPB) is a rare, aggressive intrathoracic malignancy predominantly affecting young children. Arising from lung or pleural mesenchymal cells, it is often associated with DICER1 mutations. Its presentation may mimic common paediatric respiratory conditions, leading to delayed diagnosis. 

Case Presentation
We report a near 4-year-old previously healthy girl who presented with a one-month history of persistent cough, one week of fever and acute tachypnoea. Clinical examination revealed a child with respiratory distress and decreased breath sounds over the left lung. Chest radiography showed left hemithorax opacity with contralateral mediastinal shift. Contrast-enhanced CT imaging revealed a large heterogeneous solid-cystic mass with local mass effect, suspicious of PBB. The child was intubated for worsening respiratory distress and empirically started on chemotherapy. Thoracotomy and complete surgical resection were performed after the third cycle of chemotherapy. Histopathological examination confirmed type III PPB. Staging investigations excluded metastasis. Genetic testing identified a pathogenic DICER1 mutation. She received adjuvant chemotherapy and radiotherapy and remains in remission with multidisciplinary follow-up.

Conclusion
This case highlights the importance of considering PPB in young children with persistent or atypical respiratory symptoms. Its overlapping features with other respiratory illnesses complicate early diagnosis. Definitive diagnosis requires imaging, histopathology and genetic testing. Given its aggressive nature, timely surgical resection and adjuvant therapy are essential for improving outcomes. Clinician awareness is key to facilitating early recognition and management of this rare but life-threatening malignancy.