MYD88 L265P mutation analysis helps define nodal lymphoplasmacytic lymphoma.
Identifieur interne : 000430 ( Main/Exploration ); précédent : 000429; suivant : 000431MYD88 L265P mutation analysis helps define nodal lymphoplasmacytic lymphoma.
Auteurs : Fatima Hamadeh [États-Unis] ; Stephen P. Macnamara [États-Unis] ; Nadine S. Aguilera [États-Unis] ; Steven H. Swerdlow [États-Unis] ; James R. Cook [États-Unis]Source :
- Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [ 1530-0285 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Diagnostic différentiel, Facteur de différenciation myéloïde-88 (génétique), Femelle, Humains, Leucémie chronique lymphocytaire à cellules B (anatomopathologie), Leucémie chronique lymphocytaire à cellules B (diagnostic), Leucémie chronique lymphocytaire à cellules B (génétique), Lymphocytes B (anatomopathologie), Lymphome B de la zone marginale (anatomopathologie), Lymphome B de la zone marginale (diagnostic), Lymphome B de la zone marginale (génétique), Macroglobulinémie de Waldenström (anatomopathologie), Macroglobulinémie de Waldenström (diagnostic), Macroglobulinémie de Waldenström (génétique), Mutation, Mâle, Sujet âgé, Sujet âgé de 80 ans ou plus.
- MESH :
- anatomopathologie : Leucémie chronique lymphocytaire à cellules B, Lymphocytes B, Lymphome B de la zone marginale, Macroglobulinémie de Waldenström.
- diagnostic : Leucémie chronique lymphocytaire à cellules B, Lymphome B de la zone marginale, Macroglobulinémie de Waldenström.
- génétique : Facteur de différenciation myéloïde-88, Leucémie chronique lymphocytaire à cellules B, Lymphome B de la zone marginale, Macroglobulinémie de Waldenström.
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Diagnostic différentiel, Femelle, Humains, Mutation, Mâle, Sujet âgé, Sujet âgé de 80 ans ou plus.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, B-Lymphocytes (pathology), DNA Mutational Analysis, Diagnosis, Differential, Female, Humans, Leukemia, Lymphocytic, Chronic, B-Cell (diagnosis), Leukemia, Lymphocytic, Chronic, B-Cell (genetics), Leukemia, Lymphocytic, Chronic, B-Cell (pathology), Lymphoma, B-Cell, Marginal Zone (diagnosis), Lymphoma, B-Cell, Marginal Zone (genetics), Lymphoma, B-Cell, Marginal Zone (pathology), Male, Middle Aged, Mutation, Myeloid Differentiation Factor 88 (genetics), Waldenstrom Macroglobulinemia (diagnosis), Waldenstrom Macroglobulinemia (genetics), Waldenstrom Macroglobulinemia (pathology).
- MESH :
- chemical , genetics : Myeloid Differentiation Factor 88.
- diagnosis : Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, B-Cell, Marginal Zone, Waldenstrom Macroglobulinemia.
- genetics : Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, B-Cell, Marginal Zone, Waldenstrom Macroglobulinemia.
- pathology : B-Lymphocytes, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, B-Cell, Marginal Zone, Waldenstrom Macroglobulinemia.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Mutation.
Abstract
The diagnosis of lymphoplasmacytic lymphoma is often challenging, especially in extramedullary tissues where the differential diagnosis includes nodal marginal zone lymphoma, splenic marginal zone lymphoma, or other small B-cell neoplasms with plasmacytic differentiation. The MYD88 L265P mutation has been recently identified in >90% of bone-marrow-based lymphoplasmacytic lymphoma, but the incidence of this abnormality and corresponding morphologic correlates in nodal lymphoplasmacytic lymphoma have not been established. We analyzed 87 cases of extramedullary lymphoplasmacytic lymphoma, splenic marginal zone lymphoma, unclassifiable splenic B-cell lymphomas, nodal marginal zone lymphoma with plasmacytic differentiation, and chronic lymphocytic leukemia/small lymphocytic lymphoma with plasmacytic differentiation for MYD88 L265P. Eighteen cases (21%) were positive, including 9/9 (100%) lymphoplasmacytic lymphomas with classic histologic features, 5/12 (42%) cases that met 2008 WHO criteria for lymphoplasmacytic lymphoma but with atypical morphologic features, 3/15 (20%) cases initially considered nodal marginal zone lymphoma with plasmacytic differentiation, and 1/6 (17%) unclassifiable splenic B-cell lymphomas. The presence of MYD88 L265P was associated with IgM paraprotein (P<0.001) and a trend for bone marrow involvement (P=0.09). Each of 44 splenectomy-defined splenic marginal zone lymphomas (19 with plasmacytic differentiation) and the chronic lymphocytic leukemia/small lymphocytic lymphoma with plasmacytic differentiation were negative for the mutation. Morphologic re-review with knowledge of MYD88 mutation status and all available clinical features suggested all MYD88 mutated cases were consistent with lymphoplasmacytic lymphoma (either classic or variant histology), except for one case which remained most consistent with nodal marginal zone lymphoma with plasmacytic differentiation. These results demonstrate the importance of MYD88 mutational analysis in better defining lymphoplasmacytic lymphoma as a relatively monomorphic small B-cell lymphoma with plasmacytic differentiation that may show total nodal architectural effacement and follicular colonization. Cases previously considered lymphoplasmacytic lymphoma that are more polymorphous and are often associated with histiocytes should no longer be included in the lymphoplasmacytic lymphoma category. Clinicopathologic review suggests that although MYD88 mutated non-lymphoplasmacytic lymphoma small B-cell neoplasms exist, they are very uncommon.
DOI: 10.1038/modpathol.2014.120
PubMed: 25216226
Affiliations:
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Cook</name><affiliation wicri:level="2"><nlm:affiliation>Department of Laboratory Medicine, Cleveland Clinic, Cleveland, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine, Cleveland Clinic, Cleveland, OH</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author></analytic><series><title level="j">Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc</title><idno type="eISSN">1530-0285</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>B-Lymphocytes (pathology)</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Leukemia, Lymphocytic, Chronic, B-Cell (diagnosis)</term><term>Leukemia, Lymphocytic, Chronic, B-Cell (genetics)</term><term>Leukemia, Lymphocytic, Chronic, B-Cell (pathology)</term><term>Lymphoma, B-Cell, Marginal Zone (diagnosis)</term><term>Lymphoma, B-Cell, Marginal Zone (genetics)</term><term>Lymphoma, B-Cell, Marginal Zone (pathology)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Myeloid Differentiation Factor 88 (genetics)</term><term>Waldenstrom Macroglobulinemia (diagnosis)</term><term>Waldenstrom Macroglobulinemia (genetics)</term><term>Waldenstrom Macroglobulinemia (pathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Diagnostic différentiel</term><term>Facteur de différenciation myéloïde-88 (génétique)</term><term>Femelle</term><term>Humains</term><term>Leucémie chronique lymphocytaire à cellules B (anatomopathologie)</term><term>Leucémie chronique lymphocytaire à cellules B (diagnostic)</term><term>Leucémie chronique lymphocytaire à cellules B (génétique)</term><term>Lymphocytes B (anatomopathologie)</term><term>Lymphome B de la zone marginale (anatomopathologie)</term><term>Lymphome B de la zone marginale (diagnostic)</term><term>Lymphome B de la zone marginale (génétique)</term><term>Macroglobulinémie de Waldenström (anatomopathologie)</term><term>Macroglobulinémie de Waldenström (diagnostic)</term><term>Macroglobulinémie de Waldenström (génétique)</term><term>Mutation</term><term>Mâle</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Myeloid Differentiation Factor 88</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Leucémie chronique lymphocytaire à cellules B</term><term>Lymphocytes B</term><term>Lymphome B de la zone marginale</term><term>Macroglobulinémie de Waldenström</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Leukemia, Lymphocytic, Chronic, B-Cell</term><term>Lymphoma, B-Cell, Marginal Zone</term><term>Waldenstrom Macroglobulinemia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Leucémie chronique lymphocytaire à cellules B</term><term>Lymphome B de la zone marginale</term><term>Macroglobulinémie de Waldenström</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Leukemia, Lymphocytic, Chronic, B-Cell</term><term>Lymphoma, B-Cell, Marginal Zone</term><term>Waldenstrom Macroglobulinemia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de différenciation myéloïde-88</term><term>Leucémie chronique lymphocytaire à cellules B</term><term>Lymphome B de la zone marginale</term><term>Macroglobulinémie de Waldenström</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>B-Lymphocytes</term><term>Leukemia, Lymphocytic, Chronic, B-Cell</term><term>Lymphoma, B-Cell, Marginal Zone</term><term>Waldenstrom Macroglobulinemia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Diagnostic différentiel</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The diagnosis of lymphoplasmacytic lymphoma is often challenging, especially in extramedullary tissues where the differential diagnosis includes nodal marginal zone lymphoma, splenic marginal zone lymphoma, or other small B-cell neoplasms with plasmacytic differentiation. The MYD88 L265P mutation has been recently identified in >90% of bone-marrow-based lymphoplasmacytic lymphoma, but the incidence of this abnormality and corresponding morphologic correlates in nodal lymphoplasmacytic lymphoma have not been established. We analyzed 87 cases of extramedullary lymphoplasmacytic lymphoma, splenic marginal zone lymphoma, unclassifiable splenic B-cell lymphomas, nodal marginal zone lymphoma with plasmacytic differentiation, and chronic lymphocytic leukemia/small lymphocytic lymphoma with plasmacytic differentiation for MYD88 L265P. Eighteen cases (21%) were positive, including 9/9 (100%) lymphoplasmacytic lymphomas with classic histologic features, 5/12 (42%) cases that met 2008 WHO criteria for lymphoplasmacytic lymphoma but with atypical morphologic features, 3/15 (20%) cases initially considered nodal marginal zone lymphoma with plasmacytic differentiation, and 1/6 (17%) unclassifiable splenic B-cell lymphomas. The presence of MYD88 L265P was associated with IgM paraprotein (P<0.001) and a trend for bone marrow involvement (P=0.09). Each of 44 splenectomy-defined splenic marginal zone lymphomas (19 with plasmacytic differentiation) and the chronic lymphocytic leukemia/small lymphocytic lymphoma with plasmacytic differentiation were negative for the mutation. Morphologic re-review with knowledge of MYD88 mutation status and all available clinical features suggested all MYD88 mutated cases were consistent with lymphoplasmacytic lymphoma (either classic or variant histology), except for one case which remained most consistent with nodal marginal zone lymphoma with plasmacytic differentiation. These results demonstrate the importance of MYD88 mutational analysis in better defining lymphoplasmacytic lymphoma as a relatively monomorphic small B-cell lymphoma with plasmacytic differentiation that may show total nodal architectural effacement and follicular colonization. Cases previously considered lymphoplasmacytic lymphoma that are more polymorphous and are often associated with histiocytes should no longer be included in the lymphoplasmacytic lymphoma category. Clinicopathologic review suggests that although MYD88 mutated non-lymphoplasmacytic lymphoma small B-cell neoplasms exist, they are very uncommon.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li><li>Pennsylvanie</li><li>Virginie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Hamadeh, Fatima" sort="Hamadeh, Fatima" uniqKey="Hamadeh F" first="Fatima" last="Hamadeh">Fatima Hamadeh</name></region><name sortKey="Aguilera, Nadine S" sort="Aguilera, Nadine S" uniqKey="Aguilera N" first="Nadine S" last="Aguilera">Nadine S. Aguilera</name><name sortKey="Cook, James R" sort="Cook, James R" uniqKey="Cook J" first="James R" last="Cook">James R. Cook</name><name sortKey="Macnamara, Stephen P" sort="Macnamara, Stephen P" uniqKey="Macnamara S" first="Stephen P" last="Macnamara">Stephen P. Macnamara</name><name sortKey="Swerdlow, Steven H" sort="Swerdlow, Steven H" uniqKey="Swerdlow S" first="Steven H" last="Swerdlow">Steven H. Swerdlow</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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