Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test
Identifieur interne : 00A879 ( Main/Merge ); précédent : 00A878; suivant : 00A880Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test
Auteurs : Joaquin J. Garcia [États-Unis] ; Jennifer L. Hunt [États-Unis] ; Ilan Weinreb [Canada] ; Jonathan B. Mchugh [États-Unis] ; E. Leon Barnes [États-Unis] ; Kathleen Cieply [États-Unis] ; Sanja Dacic [États-Unis] ; Raja R. Seethala [États-Unis]Source :
- Human pathology [ 0046-8177 ] ; 2011.
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Abstract
Oncocytic mucoepidermoid carcinoma poses diagnostic challenge because of its histologic overlap with other oncocytic salivary gland lesions, including Warthin tumor. Although the prognostic value of the t(11;19) MECT1-MAML2 fusion gene has been established in mucoepidermoid carcinoma, its diagnostic use in discriminating oncocytic mucoepidermoid carcinoma from histologic mimics is unexplored. We evaluated the translocation status in 14 cases of oncocytic mucoepidermoid carcinoma using a MAML2-11q21 break-apart probe spanning the entire chromosome region of the MAML2 gene and correlated these findings with clinicopathologic parameters including age, sex, stage, predominant growth pattern, grade, and p63 immunostaining pattern. All oncocytic mucoepidermoid carcinomas were parotid tumors with a mean patient age of 54.6 years (range, 9-85) and a female to male ratio of 5:2. Grade distribution was as follows: low grade, 9; intermediate grade, 2; and high grade, 3. The histologic patterns observed were as follows: solid, 4; cystic, 8 (of these, 5 had Warthin-like lymphoid stroma); and mixed, 2. Solid oncocytic mucoepidermoid carcinomas showed a diffuse p63 staining pattern, whereas cystic oncocytic mucoepidermoid carcinomas showed staining of the outer layer of intermediate cells ranging from a bilayer to areas of complex multilayering and plaque-like proliferation. Ten (71%) of the 14 cases showed a MAML2 rearrangement by fluorescence in situ hybridization. No correlation was seen between rearrangement status and histologic grade, growth pattern, or p63 staining pattern. However, we demonstrate that the presence of MAML2 rearrangement can be used as supportive evidence to distinguish oncocytic mucoepidermoid carcinoma from other oncocytic lesions.
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Seethala</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Pathology and Laboratory Medicine, University of Pittsburgh</s1><s2>Pittsburgh, PA 15213</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author></analytic><series><title level="j" type="main">Human pathology</title><title level="j" type="abbreviated">Human pathol.</title><idno type="ISSN">0046-8177</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human pathology</title><title level="j" type="abbreviated">Human pathol.</title><idno type="ISSN">0046-8177</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anatomic pathology</term><term>Chromosome translocation</term><term>Cytogenetics</term><term>Detection</term><term>Diagnosis</term><term>Exploration</term><term>Fish</term><term>Fluorescence in situ hybridization</term><term>Gene rearrangement</term><term>Mucoepidermoid carcinoma</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hybridation in situ fluorescence</term><term>Détection</term><term>Diagnostic</term><term>Tumeur mucoépidermoïde</term><term>Réarrangement génique</term><term>Exploration</term><term>Translocation chromosomique</term><term>Cytogénétique</term><term>Anatomopathologie</term><term>Poisson</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Poisson</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Oncocytic mucoepidermoid carcinoma poses diagnostic challenge because of its histologic overlap with other oncocytic salivary gland lesions, including Warthin tumor. Although the prognostic value of the t(11;19) MECT1-MAML2 fusion gene has been established in mucoepidermoid carcinoma, its diagnostic use in discriminating oncocytic mucoepidermoid carcinoma from histologic mimics is unexplored. We evaluated the translocation status in 14 cases of oncocytic mucoepidermoid carcinoma using a MAML2-11q21 break-apart probe spanning the entire chromosome region of the MAML2 gene and correlated these findings with clinicopathologic parameters including age, sex, stage, predominant growth pattern, grade, and p63 immunostaining pattern. All oncocytic mucoepidermoid carcinomas were parotid tumors with a mean patient age of 54.6 years (range, 9-85) and a female to male ratio of 5:2. Grade distribution was as follows: low grade, 9; intermediate grade, 2; and high grade, 3. The histologic patterns observed were as follows: solid, 4; cystic, 8 (of these, 5 had Warthin-like lymphoid stroma); and mixed, 2. Solid oncocytic mucoepidermoid carcinomas showed a diffuse p63 staining pattern, whereas cystic oncocytic mucoepidermoid carcinomas showed staining of the outer layer of intermediate cells ranging from a bilayer to areas of complex multilayering and plaque-like proliferation. Ten (71%) of the 14 cases showed a MAML2 rearrangement by fluorescence in situ hybridization. No correlation was seen between rearrangement status and histologic grade, growth pattern, or p63 staining pattern. However, we demonstrate that the presence of MAML2 rearrangement can be used as supportive evidence to distinguish oncocytic mucoepidermoid carcinoma from other oncocytic lesions.</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Garcia, Joaquin J" sort="Garcia, Joaquin J" uniqKey="Garcia J" first="Joaquin J." last="Garcia">Joaquin J. Garcia</name></region><name sortKey="Cieply, Kathleen" sort="Cieply, Kathleen" uniqKey="Cieply K" first="Kathleen" last="Cieply">Kathleen Cieply</name><name sortKey="Dacic, Sanja" sort="Dacic, Sanja" uniqKey="Dacic S" first="Sanja" last="Dacic">Sanja Dacic</name><name sortKey="Hunt, Jennifer L" sort="Hunt, Jennifer L" uniqKey="Hunt J" first="Jennifer L." last="Hunt">Jennifer L. Hunt</name><name sortKey="Leon Barnes, E" sort="Leon Barnes, E" uniqKey="Leon Barnes E" first="E." last="Leon Barnes">E. Leon Barnes</name><name sortKey="Mchugh, Jonathan B" sort="Mchugh, Jonathan B" uniqKey="Mchugh J" first="Jonathan B." last="Mchugh">Jonathan B. Mchugh</name><name sortKey="Seethala, Raja R" sort="Seethala, Raja R" uniqKey="Seethala R" first="Raja R." last="Seethala">Raja R. Seethala</name></country><country name="Canada"><noRegion><name sortKey="Weinreb, Ilan" sort="Weinreb, Ilan" uniqKey="Weinreb I" first="Ilan" last="Weinreb">Ilan Weinreb</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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