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rhabdomyosarcoma, embryonal, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rhabdomyosarcoma, embryonal, 2

MONDO:0859046

Overview

GeneticsDICER1 (chr 14)

OnsetJUVENILE, CHILDHOOD

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.

Features include: Ovarian thecoma, Pleuropulmonary blastoma, Thyroid nodule, and Nephroblastoma and 3 more.

Organ System	Phenotype Count	Example Features
Skin	1	Thyroid nodule
Hormones

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DICER1 encodes dicer 1, ribonuclease III (1,922 aa). Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Highest expression in Nerve Tibial (46.1 TPM) and Thyroid (31.6 TPM).

Rhabdomyosarcoma, embryonal, 2 is associated with mutations in the DICER1 gene on chromosome 14.

The DICER1 protein participates in MITF-M dependent DICER1 gene expression, Duplex siRNA is loaded into Argonaute, and Duplex miRNA is loaded into Argonaute pathways.

DICER1 is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 0.0.

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 rhabdomyosarcoma, embryonal, 2. The disease remains an area of unmet medical need.

Gene therapy approaches for rhabdomyosarcoma, embryonal, 2 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.

No clinical trials have been registered for rhabdomyosarcoma, embryonal, 2.

71 publications have been identified in PubMed for rhabdomyosarcoma, embryonal, 2. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (20%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Patient case studies	24	35%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180295

Questions for Your Care Team

→Should I pursue genetic testing for DICER1, and what would the results mean for my family?
→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

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

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.

Source: GeneReviews — "DICER1 Tumor Predisposition"

Kisho

rhabdomyosarcoma, embryonal, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Pleuropulmonary Blastoma (PPB)

Extent of Disease Spread (Staging)

Clinical Trials

Recent Publications

rhabdomyosarcoma, embryonal, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Pleuropulmonary Blastoma (PPB)

Extent of Disease Spread (Staging)

Clinical Trials

Recent Publications