Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma.

Autor: Thierauf JC; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Department of Otorhinolaryngology, Head and Neck Surgery, Heidelberg University Hospital and Research Group Molecular Mechanisms of Head and Neck Tumors, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Farahani AA; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Indave BI; International Agency for Research on Cancer (IARC), World Health Organization, 69372 Lyon, France., Bard AZ; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., White VA; International Agency for Research on Cancer (IARC), World Health Organization, 69372 Lyon, France., Smith CR; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Marble H; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Hyrcza MD; Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB 2500, Canada., Chan JKC; Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong, China., Bishop J; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Shi Q; Department of Pathology, Emory University Hospital, Atlanta, GA 30322, USA., Ely K; Department of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Agaimy A; Institute of Pathology, Friedrich Alexander University Erlangen-Nürnberg, University Hospital, 91054 Erlangen, Germany., Martinez-Lage M; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Nose V; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Rivera M; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Nardi V; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Dias-Santagata D; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Garg S; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Sadow P; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Le LP; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Faquin W; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Ritterhouse LL; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Cree IA; International Agency for Research on Cancer (IARC), World Health Organization, 69372 Lyon, France., Iafrate AJ; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Lennerz JK; Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 13; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 13.
DOI: 10.3390/ijms23084322
Abstrakt: 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.
Databáze: MEDLINE
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