Recurrent pleuropulmonary blastoma type III initially misclassified as embryonal rhabdomyosarcoma on limited biopsy: a case report with pathogenic DICER1 variant

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Pleuropulmonary blastoma (PPB) is a rare, aggressive pediatric malignancy and a sentinel tumor for DICER1 syndrome.
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A 2-year-old boy presented with respiratory distress due to a rapidly enlarging right thoracic mass, initially misdiagnosed as embryonal rhabdomyosarcoma.
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Definitive pathology confirmed PPB type III and identified a pathogenic DICER1 variant, highlighting the importance of accurate diagnosis.
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The case underscores the need for expert pathology review and adequate tissue sampling to prevent misdiagnosis and ensure appropriate management.
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Multimodal treatment for advanced PPB includes surgical resection and chemotherapy, with the IVADo protocol being commonly used for type II/III disease.

Frontiers In Pediatrics

by Suhaib Tawil, Nouraldeen Deeb, Wedad Alashwas, Hani Saleh, Khadra Salami, Alaa Jafar
May 29, 2026

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