{"entity":{"id":"pleuropulmonary-blastoma","kind":"cancer","name":"Childhood lung and airway tumours (pleuropulmonary blastoma, tracheobronchial tumours)","aka":["PPB","DICER1 syndrome","Bronchial tumours (childhood)","Tracheobronchial tumours","Childhood bronchial carcinoid","Pleuropulmonary blastoma (childhood)"],"tldr":"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.\n\nTreatment 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.\n\nOther 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.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/Pleuropulmonary_blastoma","links":[{"label":"NCI PDQ: childhood pleuropulmonary blastoma (in rare cancers of childhood)","url":"https://www.cancer.gov/types/childhood-cancers/patient/rare-childhood-cancers-pdq"},{"label":"International PPB/DICER1 Registry","url":"https://www.ppbregistry.org/"},{"label":"Messinger 2015: PPB types and outcomes (Cancer)","url":"https://doi.org/10.1002/cncr.29062"},{"label":"Schultz 2018: DICER1 syndrome surveillance consensus (Clinical Cancer Research)","url":"https://doi.org/10.1158/1078-0432.CCR-17-3089"}],"tags":["nci-coverage","paediatric","thoracic"],"related":["inflammatory-myofibroblastic-tumour","rhabdomyosarcoma","rare-childhood-cancers","thyroid","wilms-tumor","hepatoblastoma"],"cancers":[],"sections":[],"technologies":["germline-testing","ct","cytotoxic-chemotherapy"],"targets":[],"drugs":["ifosfamide","vincristine","dactinomycin","doxorubicin"],"companies":["childrens-oncology-group"],"institutions":["siop-europe"],"pathways":[],"terms":["hereditary-cancer-syndromes","bronchoscopy","ttf1-p40"],"trials":[],"people":[],"bottlenecks":["b-rare-cancers","b-hereditary-risk"],"keyPapers":["paper-english-cancer","paper-schultz-clin-cancer-res"],"journals":[],"dependsOn":[],"notes":["Where the childhood lung tumours sit. The lung cancer family page names pleuropulmonary blastoma among its subtypes, and this umbrella record is the page that string points at. It is a childhood disease of a different lineage from the carcinomas that make up adult lung cancer, and the DICER1-related entity with its types I to III sits beneath it; neither is a subtype of non-small-cell or small-cell lung cancer, and neither is treated on the adult pathway."],"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)"],"standardOfCare":[{"setting":"Type I or Ir pleuropulmonary blastoma","approach":"Complete surgical resection of the cystic lesion; adjuvant chemotherapy is optional and registry-guided; germline DICER1 testing for the child and first-degree relatives.","refs":["germline-testing"],"guideline":{"version":"International PPB/DICER1 Registry; NCI PDQ","url":"https://www.cancer.gov/types/childhood-cancers/patient/rare-childhood-cancers-pdq"}},{"setting":"Type II or III pleuropulmonary blastoma","approach":"Neoadjuvant or adjuvant multi-agent chemotherapy (ifosfamide, vincristine, dactinomycin, doxorubicin) with complete resection; radiotherapy for unresectable residual disease.","refs":["ifosfamide","vincristine","dactinomycin","doxorubicin"],"guideline":{"version":"International PPB/DICER1 Registry recommendations (Cancer 2015)","url":"https://doi.org/10.1002/cncr.29062"}},{"setting":"Tracheobronchial carcinoid or mucoepidermoid carcinoma","approach":"Bronchoscopic assessment and parenchyma-sparing surgical resection (sleeve resection); systemic therapy rarely needed.","refs":["bronchoscopy"]},{"setting":"DICER1 carriers","approach":"Surveillance per international consensus: chest imaging in infancy and early childhood, abdominal ultrasound, thyroid ultrasound, and awareness of ovarian and other syndrome tumours.","refs":["hereditary-cancer-syndromes","germline-testing"],"guideline":{"version":"DICER1 surveillance consensus (Clinical Cancer Research 2018)","url":"https://doi.org/10.1158/1078-0432.CCR-17-3089"}}],"stateOfArt":["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."],"history":[{"year":1988,"title":"Pleuropulmonary blastoma described as a distinct entity","note":"Manivel and colleagues separate PPB from adult pulmonary blastoma; the International PPB Registry is founded.","refs":[]},{"year":2009,"title":"DICER1 germline mutations cause familial PPB","note":"Hill and colleagues (Science) identify the first microRNA-processing gene tumour syndrome.","refs":[]},{"year":2015,"title":"Registry defines types I to III and treatment recommendations","note":"Messinger and colleagues (Cancer 2015) report outcomes by type.","refs":[]},{"year":2018,"title":"International DICER1 surveillance consensus published","refs":["germline-testing"]}],"pipeline":["germline-testing"],"openProblems":["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."],"parent":"childhood-cancers"},"route":"/cancers/pleuropulmonary-blastoma/","neighbours":{"cancer":[{"id":"childhood-cancers","kind":"cancer","name":"Childhood cancers (all types)","route":"/cancers/childhood-cancers/"},{"id":"hepatoblastoma","kind":"cancer","name":"Hepatoblastoma","route":"/cancers/hepatoblastoma/"},{"id":"inflammatory-myofibroblastic-tumour","kind":"cancer","name":"Inflammatory myofibroblastic tumour (IMT)","route":"/cancers/inflammatory-myofibroblastic-tumour/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"pleuropulmonary-blastoma-dicer1","kind":"cancer","name":"Pleuropulmonary blastoma (types I, Ir, II and III)","route":"/cancers/pleuropulmonary-blastoma-dicer1/"},{"id":"pulmonary-blastoma","kind":"cancer","name":"Pulmonary blastoma (adult)","route":"/cancers/pulmonary-blastoma/"},{"id":"rare-childhood-cancers","kind":"cancer","name":"Rare cancers of childhood (NCI PDQ umbrella)","route":"/cancers/rare-childhood-cancers/"},{"id":"rhabdomyosarcoma","kind":"cancer","name":"Rhabdomyosarcoma","route":"/cancers/rhabdomyosarcoma/"},{"id":"thyroid","kind":"cancer","name":"Thyroid cancer","route":"/cancers/thyroid/"},{"id":"wilms-tumor","kind":"cancer","name":"Wilms tumour (nephroblastoma)","route":"/cancers/wilms-tumor/"}],"technology":[{"id":"ct","kind":"technology","name":"CT (computed tomography)","route":"/technologies/ct/"},{"id":"cytotoxic-chemotherapy","kind":"technology","name":"Cytotoxic chemotherapy","route":"/technologies/cytotoxic-chemotherapy/"},{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"drug":[{"id":"dactinomycin","kind":"drug","name":"Dactinomycin (actinomycin D)","route":"/drugs/dactinomycin/"},{"id":"doxorubicin","kind":"drug","name":"Doxorubicin","route":"/drugs/doxorubicin/"},{"id":"ifosfamide","kind":"drug","name":"Ifosfamide","route":"/drugs/ifosfamide/"},{"id":"vincristine","kind":"drug","name":"Vincristine","route":"/drugs/vincristine/"}],"company":[{"id":"childrens-oncology-group","kind":"company","name":"Children's Oncology Group (COG)","route":"/companies/childrens-oncology-group/"}],"institution":[{"id":"siop-europe","kind":"institution","name":"SIOP Europe (European Society for Paediatric Oncology)","route":"/institutions/siop-europe/"}],"term":[{"id":"bronchoscopy","kind":"term","name":"Bronchoscopy (EBUS, robotic navigation)","route":"/terms/bronchoscopy/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"},{"id":"ttf1-p40","kind":"term","name":"TTF-1 and p40 (how lung histology is decided)","route":"/terms/ttf1-p40/"}],"bottleneck":[{"id":"b-hereditary-risk","kind":"bottleneck","name":"Inherited risk is mostly unidentified","route":"/bottlenecks/b-hereditary-risk/"},{"id":"b-rare-cancers","kind":"bottleneck","name":"Rare and paediatric cancers without markets","route":"/bottlenecks/b-rare-cancers/"}],"paper":[{"id":"paper-schultz-clin-cancer-res","kind":"paper","name":"DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies","route":"/key-papers/paper-schultz-clin-cancer-res/"},{"id":"paper-english-cancer","kind":"paper","name":"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","route":"/key-papers/paper-english-cancer/"}]}}