Childhood lung and airway tumours (pleuropulmonary blastoma, tracheobronchial tumours)
Primary lung tumours in children are rare and unlike adult lung cancer. The most important, pleuropulmonary blastoma, starts as a lung cyst in infants and is caused by a faulty DICER1 gene, which also predisposes to thyroid, ovarian and kidney tumours. Finding and removing cysts early, guided by an international registry and family gene testing, prevents progression to the aggressive solid forms.
Overview
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.
Other childhood lung and airway tumours are grouped with PPB by the NCI: tracheobronchial carcinoid tumours (the most common primary lung malignancy in children, usually cured by sleeve or lobar resection), mucoepidermoid carcinoma of the bronchus, inflammatory myofibroblastic tumour (ALK-rearranged, see its own record) and rare adult-type carcinomas. The recurring themes are delayed diagnosis because symptoms mimic asthma or pneumonia, the value of bronchoscopy and cross-sectional imaging, and the need for rare-tumour registries rather than randomised trials.
State of the art today
- PPB is understood as a DICER1 syndrome tumour with a staged natural history; early removal of type I cysts prevents the solid, chemotherapy-requiring forms.
- A single international registry has defined classification, treatment and surveillance for a tumour too rare for randomised trials.
- Germline DICER1 testing and family surveillance turn one diagnosis into prevention across a family.
- Childhood carcinoid and mucoepidermoid airway tumours are cured by lung-sparing surgery when recognised; diagnostic delay is the main problem.
Where it starts and where it drains
Central tumours arise in the large airways, peripheral ones in the alveoli; both drain to hilar then mediastinal nodes, and the pleural lining is a separate cancer site.
- Central airways (squamous, small-cell)Pleuropulmonary blastoma type I (cystic) · Pleuropulmonary blastoma type Ir (regressed) · Pleuropulmonary blastoma type II (cystic and solid) · Pleuropulmonary blastoma type III (solid) · Tracheobronchial carcinoid tumour · Mucoepidermoid carcinoma of the bronchus · Pulmonary inflammatory myofibroblastic tumour (ALK-rearranged)
- Periphery (adenocarcinoma)Pulmonary inflammatory myofibroblastic tumour (ALK-rearranged)
- Apex (Pancoast)
- Pleura (mesothelioma)
- Thymus (anterior mediastinum)Mucoepidermoid carcinoma of the bronchus
- hilar (N1)
- mediastinal (N2)
- supraclavicular (N3)
Same organ: Non-small-cell lung cancer, Small-cell lung cancer, Mesothelioma, Thymoma and thymic carcinoma, Inflammatory myofibroblastic tumour (IMT)
Very rare: pleuropulmonary blastoma is reported in a few dozen children a year worldwide through the International PPB/DICER1 Registry; tracheobronchial tumours in children are mostly carcinoid and mucoepidermoid tumours (NCI PDQ).
- AI in radiologyEstablished
- cfDNA fragmentomicsEstablished
- Colorectal cancer screening (colonoscopy, FIT, stool DNA, blood)Standard of care
- DNA methylation profilingEstablished
- HCC surveillance in cirrhosis (ultrasound + AFP)Standard of care
- High-risk pancreatic surveillance (CAPS / PRECEDE)Established
- A 28-day national pathway for people with a positive multi-cancer blood test
- A breath test to rule out cancer in people with vague symptoms
- A cancer blood test for older people arriving at A&E with unexplained symptoms
- A legislated, publicly reported 28-day standard from urgent referral to diagnosis
- A live national dashboard of stage at diagnosis as the scorecard for early detection
- A single 'cancer check at 60' appointment bundling all screening tests
Background: Alpha-fetoprotein (AFP), Barrett's oesophagus, CA 19-9, Early detection, Faecal immunochemical test (FIT). Also on OnCo: Symptoms and red flags · Early detection roadmap.
Where the cases are
No country-level case numbers. This cancer is not mapped to a GLOBOCAN site.
Complete surgical resection of the cystic lesion; adjuvant chemotherapy is optional and registry-guided; germline DICER1 testing for the child and first-degree relatives.
Neoadjuvant or adjuvant multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin, doxorubicin) with complete resection; radiotherapy for unresectable residual disease.
Bronchoscopic assessment and parenchyma-sparing surgical resection (sleeve resection); systemic therapy rarely needed.
Surveillance per international consensus: chest imaging in infancy and early childhood, abdominal ultrasound, thyroid ultrasound, and awareness of ovarian and other syndrome tumours.
Subtypes & biomarkers
top- Pleuropulmonary blastoma type I (cystic)
- Pleuropulmonary blastoma type Ir (regressed)
- Pleuropulmonary blastoma type II (cystic and solid)
- Pleuropulmonary blastoma type III (solid)
- Tracheobronchial carcinoid tumour
- Mucoepidermoid carcinoma of the bronchus
- Pulmonary inflammatory myofibroblastic tumour (ALK-rearranged)
- Germline DICER1 loss-of-function variant
- Somatic DICER1 RNase IIIb hotspot mutation
- PPB type (I, Ir, II, III) on pathology
- Chest CT for cystic lung lesions in DICER1 carriers
- ALK rearrangement (inflammatory myofibroblastic tumour)
Target prevalence in this cancer
- 1988Pleuropulmonary blastoma described as a distinct entity
Manivel and colleagues separate PPB from adult pulmonary blastoma; the International PPB Registry is founded.
- 2009DICER1 germline mutations cause familial PPB
Hill and colleagues (Science) identify the first microRNA-processing gene tumour syndrome.
- 2015Registry defines types I to III and treatment recommendations
Messinger and colleagues (Cancer 2015) report outcomes by type.
- 2018International DICER1 surveillance consensus published
Open problems, and what is being done about each
Whether adjuvant chemotherapy helps type I PPB; the registry is comparing outcomes with and without it.
Type III and recurrent PPB have poor outcomes and no targeted therapy; DICER1-dependent biology (miRNA processing) has not yet yielded a drug.
and how the field plans to fix it →What is being done about thisRecurrence and residual diseaseAvailable now- Liquid biopsy (ctDNA)Standard of care
- MRD / molecular residual disease testingEstablished
- Multiparameter flow cytometry MRDStandard of care
- NGS-based MRD (clonoSEQ and molecular MRD)Standard of care
- SignateraEstablished
- Structured exercise programmes after curative treatmentEstablished
In trials- ADAURAPositive
- CAMBRIA-1 & CAMBRIA-2Recruiting
- CIRCULATE-Japan (GALAXY / VEGA / ALTAIR)Active
- ctDNA monitoring in lymphoma (PhasED-seq, clonoSEQ)Emerging
- DYNAMICPositive
- IMvigor011Positive
Ideas and roadmaps- A blood test for the pre-metastatic niche
- A bone marrow niche on a chip to study human dormancy
- A dedicated clinic for people whose blood test says the cancer is back
- A drug screen that only rewards killing sleeping cancer cells
- A national platform trial that every ctDNA-positive patient can join
- A national residual-disease weather service: serial blood tests for every curatively treated patient, pooled
Background: Circulating tumour DNA (ctDNA), Disseminated tumour cells (DTCs), Late recurrence, Minimal / molecular residual disease (MRD), MRD negativity (myeloma, 10⁻⁵ / 10⁻⁶). Also on OnCo: Treatment journeys · Survivorship planner.
Uptake of germline testing and surveillance across families, and the psychological burden of surveillance in carriers.
Diagnostic delay for childhood airway tumours misdiagnosed as asthma.
Trials
topRecruiting now (live from ClinicalTrials.gov)
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Expert centres
topCentres linked to this cancer in OnCo
- A.C. Camargo Cancer CenterSão Paulo, BRvia Germline (hereditary) testing, Hereditary cancer syndromes
- Hospital de Clínicas de Porto AlegrePorto Alegre, BRvia Germline (hereditary) testing, Hereditary cancer syndromes
- Catalan Institute of Oncology (ICO)L'Hospitalet de Llobregat, ESvia Germline (hereditary) testing
- Children's Hospital of PhiladelphiaPhiladelphia, PA, USvia Germline (hereditary) testing
- Children's Oncology Group (COG)Monrovia, CA, USvia this cancer
- Edinburgh Cancer Centre / CRUK Scotland CentreEdinburgh, GBvia Germline (hereditary) testing
- via Germline (hereditary) testing
- via Germline (hereditary) testing
- Groote Schuur Hospital / University of Cape TownCape Town, ZAvia Germline (hereditary) testing
- Hadassah Medical CenterJerusalem, ILvia Germline (hereditary) testing
- via Germline (hereditary) testing
- Hospital Universitari i Politècnic La FeValencia, ESvia Germline (hereditary) testing
- via Germline (hereditary) testing
- via Germline (hereditary) testing
- via Germline (hereditary) testing
- via Germline (hereditary) testing
- King Hussein Cancer CenterAmman, JOvia Germline (hereditary) testing
- Korle Bu Teaching HospitalAccra, GHvia Germline (hereditary) testing
- Lagos University Teaching HospitalLagos, NGvia Germline (hereditary) testing
- MovemberMelbourne, AUvia Germline (hereditary) testing
- Peking Union Medical College HospitalBeijing, CNvia Germline (hereditary) testing
- QIMR Berghofer Medical Research InstituteBrisbane, AUvia Germline (hereditary) testing
- Ramathibodi Hospital, Mahidol UniversityBangkok, THvia Germline (hereditary) testing
- Shaare Zedek Medical CenterJerusalem, ILvia Germline (hereditary) testing
- Shizuoka Cancer CenterNagaizumi, Shizuoka, JPvia Germline (hereditary) testing
- via this cancer
- via Germline (hereditary) testing
- The Hospital for Sick Children (SickKids)Toronto, ON, CAvia Germline (hereditary) testing
- Tohoku University HospitalSendai, JPvia Germline (hereditary) testing
- University of Malaya Medical CentreKuala Lumpur, MYvia Germline (hereditary) testing
Questions to ask
topQuestions to ask your oncologist about Childhood lung and airway tumours
Newly diagnosed
- What is my exact diagnosis, stage, and grade, and which tests established them?Why: Everything else follows from an accurate stage and subtype.
- Which biomarkers have been tested on my tumour (for example Germline DICER1 loss-of-function variant, Somatic DICER1 RNase IIIb hotspot mutation, PPB typeon pathology, Chest CT for cystic lung lesions in DICER1 carriers, ALK rearrangement), and what were the results?Why: These results decide eligibility for targeted therapy, immunotherapy, and trials.
- Which subtype is my cancer, and does that change the recommended treatment?Why: Recognised subtypes for this cancer include Pleuropulmonary blastoma type I, Pleuropulmonary blastoma type Ir, Pleuropulmonary blastoma type II.
- Is germline (inherited) genetic testing recommended for me or my family?Why: Inherited variants can change treatment and matter for relatives.
Type I or Ir pleuropulmonary blastoma
- For my situation (type i or ir pleuropulmonary blastoma), which of the standard options do you recommend and why?Why: Guideline options include: Complete surgical resection of the cystic lesion; adjuvant chemotherapy is optional and registry-guided; germline DICER1 testing for the child and first-degree relatives.
Type II or III pleuropulmonary blastoma
- For my situation (type ii or iii pleuropulmonary blastoma), which of the standard options do you recommend and why?Why: Guideline options include: Neoadjuvant or adjuvant multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin, doxorubicin) with complete resection; radiotherapy for unresectable residual disease.
- Am I a candidate for Ifosfamide, Vincristine, Dactinomycin (actinomycin D) or related drugs, and what side effects should I expect?Why: Knowing the expected toxicities helps you plan work, family, and supportive care.
Tracheobronchial carcinoid or mucoepidermoid carcinoma
- For my situation (tracheobronchial carcinoid or mucoepidermoid carcinoma), which of the standard options do you recommend and why?Why: Guideline options include: Bronchoscopic assessment and parenchyma-sparing surgical resection (sleeve resection); systemic therapy rarely needed.
DICER1 carriers
- For my situation (dicer1 carriers), which of the standard options do you recommend and why?Why: Guideline options include: Surveillance per international consensus: chest imaging in infancy and early childhood, abdominal ultrasound, thyroid ultrasound, and awareness of ovarian and other syndrome tumours.
Any stage
- Are there clinical trials I could join, for example of Germline (hereditary) testing?Why: Trials are how the next standard of care is set; asking early keeps options open.
- Would a second opinion at a high-volume centre change anything, and can you help arrange it?Why: Rare or high-stakes decisions benefit from a centre that treats many similar patients.
- What supportive care (symptom control, nutrition, exercise, mental health, financial help) is available from the start?Why: Supportive care improves quality of life and helps patients complete treatment.
- I read that “Whether adjuvant chemotherapy helps type I PPB; the registry is comparing outcomes with and without it”. How does that affect my plan?Why: Open problems are where trials and second opinions matter most.
- I read that “Type III and recurrent PPB have poor outcomes and no targeted therapy; DICER1-dependent biology (miRNA processing) has not yet yielded a drug”. How does that affect my plan?Why: Open problems are where trials and second opinions matter most.
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topQuery for this cancer: (TITLE:"Childhood lung and airway tumours" OR ABSTRACT:"Childhood lung and airway tumours" OR TITLE:"pleuropulmonary blastoma, tracheobronchial tumours" OR ABSTRACT:"pleuropulmonary blastoma, tracheobronchial tumours" OR TITLE:"PPB" OR ABSTRACT:"PPB" OR TITLE:"DICER1 syndrome" OR ABSTRACT:"DICER1 syndrome" OR TITLE:"Bronchial tumours childhood" OR ABSTRACT:"Bronchial tumours childhood" OR TITLE:"Tracheobronchial tumours" OR ABSTRACT:"Tracheobronchial tumours") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Childhood lung and airway tumours (pleuropulmonary blastoma, tracheobronchial tumours), not a curated reading list.
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