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pulmonary blastoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary blastoma

MONDO:0005933

Also known as:Pneumoblastomablastoma of lungblastoma of the lung

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Overview

A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.

OnsetCHILDHOOD

Clinical Trials7 registered · 4 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: childhood.

GeneReviews

Clinical Guidance

To date, more than 1,000 individuals have been identified with a germline pathogenic variant in DICER1 including literature reports and unpublished International PPB/DICER1 Registry and NIH Natural History Study data. The following description of the phenotypic features associated with this condition is based on these reports. Studies to date have focused on germline DICER1 pathogenic variants occurring in children with pleuropulmonary blastoma (PPB), in girls and women with ovarian sex cord-stromal tumors, children with cystic nephroma, and families with thyroid hyperplasia as well as other tumor types. The majority of tumors reported in individuals with a germline DICER1 pathogenic variant occur in individuals younger than age 40 years. Less is known about the risk for malignancies or other conditions in older adults with a germline DICER1 pathogenic variant. Table 2. Select Features of DICER1 Tumor Predisposition

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

DICER1 tumor predisposition (DICER1) should be suspected in individuals with the following tumors and/or clinical features:

Source: GeneReviews — "DICER1 Tumor Predisposition"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for pulmonary blastoma. The disease remains an area of unmet medical need.

Gene therapy approaches for pulmonary blastoma have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

For an individual diagnosed with a DICER1 tumor predisposition (DICER1), the two considerations for evaluations following initial diagnosis are:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance guidelines for individuals with a germline DICER1 pathogenic variant have been established . Provider and individual/family education is the cornerstone of surveillance. Individuals and caregivers should be advised of signs and symptoms of concern. Note that if signs of tumor are detected, additional evaluation will be needed. This table is not intended to address post-tumor surveillance.

Table 4.

Recommended Surveillance for Individuals with DICER1 Tumor Predisposition

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

7 clinical trials registered, 4 recruiting. Interventions under study include other interventions, drug therapy, procedural interventions, and biologic therapy. Pipeline includes 1 PHASE3, 1 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07005297](https://clinicaltrials.gov/study/NCT07005297)

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:64741

GARD

Genetic and Rare Diseases Info Center

GARD:18864

Questions for Your Care Team

→Are any of the 7 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	% of Persons w/DICER1 Germline Pathogenic Variant w/Feature	Comment
Macrocephaly	~42%	—
Pleuropulmonaryblastoma	Lung cysts / type Ir PPB in 25%-40%; PPB types I, II, III in 10%	65% of children w/PPB had a DICER1 germline pathogenic variant.
Multinodular goiter	32% of women; 13% of men	By age 20 yrs
75% of women; 17% of men	By age 40 yrs Ovarian sex cord-stromal tumors	10%
Cystic nephroma	≤10%	—
Ciliary bodymedulloepithelioma	~3%	—
Differentiated thyroidcarcinoma	Rare	16- to 24-fold risk
Nasalchondromesenchymalhamartoma	Rare	~1% of persons ascertained by family history (non-probands)
Other tumors	Rare	Embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, CNS sarcomas, presacral malignant teratoid tumor, other CNS embryonal tumors/ETMR-like
Multicystic hepaticlesions	Very rare2	CNS = central nervous system; ETMR = embryonal tumor with multilayer rosettes; PPB = pleuropulmonary blastoma; SLCT = Sertoli-Leydig cell tumor; type Ir PPB = regressed or nonprogressed PPB 1. 2. Pleuropulmonary blastoma (PPB) occurs primarily in very young children.

Research Type	Count	% of Total
Patient case studies	35	45%
Laboratory research	11	14%
Disease patterns and progression	9	12%
Research summaries	8	10%
Testing and diagnosis research	7	9%
Clinical study results	6	8%
New treatment approaches	1	1%

Kisho

pulmonary blastoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Pleuropulmonary Blastoma (PPB)

Extent of Disease Spread (Staging)

Clinical Trials

Recent Publications

pulmonary blastoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Pleuropulmonary Blastoma (PPB)

Extent of Disease Spread (Staging)

Clinical Trials

Recent Publications