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9 slides generated from the cancer page, with a quiz from the open benchmark and speaker notes that cite the sources. Arrow keys move between slides; Print gives one slide per page.
Primary lung tumours in children are rare and unlike adult lung cancer. Pleuropulmonary blastoma starts as a lung cyst in infants and results from a faulty DICER1 gene that also predisposes to thyroid, ovarian and kidney tumours; removing cysts early, guided by an international registry and family gene testing, prevents progression to the aggressive solid forms.
Pleuropulmonary blastoma (PPB) is the archetypal DICER1-related tumour: a mesenchymal malignancy of the lung and pleura in children under about six years. It evolves through recognised stages: type I (purely cystic, infants, excellent outcome with surgery), type Ir (regressed cystic), type II (cystic and solid) and type III (solid), with progressively worse prognosis. About two thirds of children carry a germline loss-of-function DICER1 variant, with a second somatic hotspot mutation in the RNase IIIb domain in the tumour. The same syndrome causes cystic nephroma, Sertoli-Leydig cell tumour of the ovary, multinodular goitre and differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, embryonal rhabdomyosarcoma of the cervix and nasal chondromesenchymal hamartoma, so a PPB diagnosis triggers testing and surveillance across the family.
Treatment is surgical for type I disease, with adjuvant chemotherapy debated and studied in the registry; types II and III receive multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin and doxorubicin, the IVADo backbone used in rhabdomyosarcoma) plus complete resection, with radiotherapy for residual disease. The International PPB/DICER1 Registry (since 1988) has defined the staging, treatment recommendations and surveillance guidance, including chest imaging for infants known to carry DICER1 variants so that cysts are removed before they become solid tumours.
| Setting | Approach | Guideline |
|---|---|---|
| Type I or Ir pleuropulmonary blastoma | Complete surgical resection of the cystic lesion; adjuvant chemotherapy is optional and registry-guided; germline DICER1 testing for the child and first-degree relatives. | not mapped |
| Type II or III pleuropulmonary blastoma | Neoadjuvant or adjuvant multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin, doxorubicin) with complete resection; radiotherapy for unresectable residual disease. | not mapped |
| Tracheobronchial carcinoid or mucoepidermoid carcinoma | Bronchoscopic assessment and parenchyma-sparing surgical resection (sleeve resection); systemic therapy rarely needed. | not mapped |
| DICER1 carriers | Surveillance per international consensus: chest imaging in infancy and early childhood, abdominal ultrasound, thyroid ultrasound, and awareness of ovarian and other syndrome tumours. | not mapped |