Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma

Author:

Thierauf Julia C.,Farahani Alex A.,Indave B. IciarORCID,Bard Adam Z.ORCID,White Valerie A.,Smith Cameron R.ORCID,Marble Hetal,Hyrcza Martin D.,Chan John K. C.,Bishop Justin,Shi Qiuying,Ely Kim,Agaimy AbbasORCID,Martinez-Lage Maria,Nose Vania,Rivera Miguel,Nardi Valentina,Dias-Santagata DoraORCID,Garg Salil,Sadow Peter,Le Long P.,Faquin William,Ritterhouse Lauren L.,Cree Ian A.,Iafrate A. John,Lennerz Jochen K.ORCID

Abstract

Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5-year experience in prospective testing of 8106 solid tumors using RNA-seq panel testing in combinations with a two-round Delphi-based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% (n = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% (n = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for “confirmatory MAML2 testing” in suspected MEC and ASC, respectively. Real-world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real-world evidence can help move a rare molecular-genetic biomarker from an emerging tool to the clinic.

Funder

National Institute of Health

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

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