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pleomorphic adenoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pleomorphic adenoma

MONDO:0008401

Also known as:adenomas, salivary gland pleomorphic, somaticpleomorphic adenoma (morphologic abnormality)tumor, mixed, benign

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Overview

A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).

GeneticsMultifactorial, Autosomal dominant · PLAG1 (chr 8)

Clinical Trials1 registered

Clinical Presentation

Features include: Salivary gland neoplasm.

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Genetic Landscape

PLAG1 function has not been fully characterized.

Pleomorphic adenoma is associated with mutations in the PLAG1 gene on chromosome 8.

Diagnosis

Genetic testing for PLAG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pleomorphic adenoma has been reported in the published literature.

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.

1 clinical trial registered. Pipeline includes 1 PHASE2.

316 publications have been identified in PubMed for pleomorphic adenoma. Kisho has analyzed 105 by research type. Research spans Case Report / Case Series (32%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Patient case studies	34	32%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:181030

Orphanet

European rare disease database

Orphanet:454821

GARD

Genetic and Rare Diseases Info Center

GARD:17789

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for PLAG1, 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?

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pleomorphic adenoma

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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