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Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma
Julia C Thierauf1,2, Alex A Farahani1, B Iciar Indave3
1Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
International Journal of Molecular Sciences
|April 23, 2022
Summary
MAML2 translocations are valuable for diagnosing mucoepidermoid carcinoma (MEC) and excluding adenosquamous carcinoma (ASC). This molecular marker, particularly in head and neck tumors, aids in confirming diagnoses and refining treatment strategies.
Area of Science:
- Oncology
- Molecular Pathology
- Genetics
Background:
- Mucoepidermoid carcinoma (MEC) is a common salivary gland malignancy.
- MAML2 translocations are a characteristic genetic alteration in MEC.
- Distinguishing MEC from adenosquamous carcinoma (ASC) can be diagnostically challenging.
Purpose of the Study:
- To evaluate the diagnostic utility of MAML2 translocation testing in solid tumors.
- To assess the real-world impact of MAML2 testing on clinical diagnoses.
- To determine the prevalence and significance of MAML2 alterations in MEC and ASC.
Main Methods:
- Prospective RNA-seq panel testing of 8106 solid tumors over 5 years.
- Two-round Delphi-based scenario survey with 15 experts.
- Analysis of MAML2 translocation prevalence and diagnostic impact.
Main Results:
- MAML2 translocations were found in 0.28% of all tumors, predominantly in head and neck (5.9%).
- MAML2 testing confirmed MEC in 60% of cases and altered the working diagnosis in 24%.
- Experts assigned high importance to MAML2 testing for MEC confirmation and ASC exclusion.
Conclusions:
- MAML2 translocation testing serves as a valuable confirmatory marker for MEC.
- MAML2 testing is a highly specific tool for excluding ASC.
- Real-world evidence supports the clinical integration of MAML2 as a diagnostic biomarker.
