# Childhood lung and airway tumours (pleuropulmonary blastoma, tracheobronchial tumours)

Source: https://onco.cc/cancers/pleuropulmonary-blastoma/  
OnCo record `pleuropulmonary-blastoma` (Cancer). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Cancer
- Last checked: 2026-09-10
- Also known as: PPB; DICER1 syndrome; Bronchial tumours (childhood); Tracheobronchial tumours; Childhood bronchial carcinoid
- Tags: nci-coverage; paediatric; thoracic
- Group: paediatric
- Burden: 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).
- Subtypes: 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)
- Biomarkers: 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)

## Sections of this record

The page is a hub with ten sections in reading order; large sections have their own page. The same plan as JSON: https://onco.cc/api/v1/cancers/pleuropulmonary-blastoma/sections.json

- Overview (on the hub): The TL;DR, the family this cancer belongs to, the organ, who gets it and what the state of the art is. https://onco.cc/cancers/pleuropulmonary-blastoma/#overview [1 subtype, 4 state-of-the-art points]
- What it is (on the hub): Anatomy, the subtypes and how they differ, how it is staged, and where advanced disease spreads. https://onco.cc/cancers/pleuropulmonary-blastoma/#what-it-is [8 subtypes]
- Finding it (on the hub): How it shows itself, how it is confirmed, what screening exists, and the biomarkers clinicians test for. https://onco.cc/cancers/pleuropulmonary-blastoma/#finding-it [5 biomarkers]
- Treating it (on the hub): The standard of care by setting, the medicines, surgery and radiotherapy named in it, and the regimens behind them. https://onco.cc/cancers/pleuropulmonary-blastoma/#treating-it [4 settings, 1 decision with options]
- Evidence (on the hub): Trials recruiting now, the landmark trials, the key papers and what they mean, the latest literature, and the milestones year by year. https://onco.cc/cancers/pleuropulmonary-blastoma/#evidence [2 key papers, 4 milestones]
- The science (on the hub): The molecular landscape: the targets and how often each appears, the pathways, the mechanics stages and the preclinical models. https://onco.cc/cancers/pleuropulmonary-blastoma/#science
- Where you are (own page): Cases by country, the UK and NHS pathway and other country lenses, and the expert centres with trials on record. https://onco.cc/cancers/pleuropulmonary-blastoma/where-you-are/ [1 centre]
- Living with it (on the hub): The decisions you may face, the aids that walk through them, the warnings on record, the first sixty days and the questions to ask. https://onco.cc/cancers/pleuropulmonary-blastoma/#living-with-it [14 questions, 6 red cards]
- What is coming (own page): Everything in development, the open problems and what is being done about them, the roadmaps, and what changed on this record. https://onco.cc/cancers/pleuropulmonary-blastoma/coming/ [4 medicines, 4 open problems]
- Data (own page): Every connected record, the notes, the JSON, Markdown and RDF twins, and where the record came from and when it was checked. https://onco.cc/cancers/pleuropulmonary-blastoma/data/ [19 connected records]

## Standard of care

- 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. ([Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/))
- Type II or III pleuropulmonary blastoma: Neoadjuvant or adjuvant multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin, doxorubicin) with complete resection; radiotherapy for unresectable residual disease. ([Ifosfamide](https://onco.cc/drugs/ifosfamide/), [Vincristine](https://onco.cc/drugs/vincristine/), [Dactinomycin (actinomycin D)](https://onco.cc/drugs/dactinomycin/), [Doxorubicin](https://onco.cc/drugs/doxorubicin/))
- Tracheobronchial carcinoid or mucoepidermoid carcinoma: Bronchoscopic assessment and parenchyma-sparing surgical resection (sleeve resection); systemic therapy rarely needed. ([Bronchoscopy (EBUS, robotic navigation)](https://onco.cc/terms/bronchoscopy/))
- 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. ([Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/), [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/))

## State of the art

- 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.

## Open problems

- 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.
- 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.

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Pleuropulmonary_blastoma
- NCI PDQ: childhood pleuropulmonary blastoma (in rare cancers of childhood): https://www.cancer.gov/types/childhood-cancers/patient/rare-childhood-cancers-pdq
- International PPB/DICER1 Registry: https://www.ppbregistry.org/
- Messinger 2015: PPB types and outcomes (Cancer): https://doi.org/10.1002/cncr.29062
- Schultz 2018: DICER1 syndrome surveillance consensus (Clinical Cancer Research): https://doi.org/10.1158/1078-0432.CCR-17-3089

## Connected records

- cancers: [Childhood cancers (all types)](https://onco.cc/cancers/childhood-cancers/), [Hepatoblastoma](https://onco.cc/cancers/hepatoblastoma/), [Inflammatory myofibroblastic tumour (IMT)](https://onco.cc/cancers/inflammatory-myofibroblastic-tumour/), [Pleuropulmonary blastoma (types I, Ir, II and III)](https://onco.cc/cancers/pleuropulmonary-blastoma-dicer1/), [Pulmonary blastoma (adult)](https://onco.cc/cancers/pulmonary-blastoma/), [Rare cancers of childhood (NCI PDQ umbrella)](https://onco.cc/cancers/rare-childhood-cancers/), [Rhabdomyosarcoma](https://onco.cc/cancers/rhabdomyosarcoma/), [Thyroid cancer](https://onco.cc/cancers/thyroid/), [Wilms tumour (nephroblastoma)](https://onco.cc/cancers/wilms-tumor/)
- technologies: [CT (computed tomography)](https://onco.cc/technologies/ct/), [Cytotoxic chemotherapy](https://onco.cc/technologies/cytotoxic-chemotherapy/), [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- drugs: [Dactinomycin (actinomycin D)](https://onco.cc/drugs/dactinomycin/), [Doxorubicin](https://onco.cc/drugs/doxorubicin/), [Ifosfamide](https://onco.cc/drugs/ifosfamide/), [Vincristine](https://onco.cc/drugs/vincristine/)
- companies: [Children's Oncology Group (COG)](https://onco.cc/companies/childrens-oncology-group/)
- institutions: [SIOP Europe (European Society for Paediatric Oncology)](https://onco.cc/institutions/siop-europe/)
- terms: [Bronchoscopy (EBUS, robotic navigation)](https://onco.cc/terms/bronchoscopy/), [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)
- bottlenecks: [Inherited risk is mostly unidentified](https://onco.cc/bottlenecks/b-hereditary-risk/), [Rare and paediatric cancers without markets](https://onco.cc/bottlenecks/b-rare-cancers/)
- key papers: [DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies](https://onco.cc/key-papers/paper-schultz-clin-cancer-res/), [Solitomab, an epithelial cell adhesion molecule/CD3 bispecific antibody (BiTE), is highly active against primary chemotherapy-resistant ovarian cancer cell lines in vitro and fresh tumor cells ex vivo](https://onco.cc/key-papers/paper-english-cancer/)

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JSON: https://onco.cc/api/v1/entities/pleuropulmonary-blastoma.json