Τίτλος:
Detection of L265P MYD-88 mutation in a series of clonal B-cell lymphocytosis of marginal zone origin (CBL-MZ)
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Clonal B-cell lymphocytosis of marginal zone origin (CBL-MZ) is a recently described entity characterized by the presence of clonal B cells in the blood and/or bone marrow (BM) with morphologic and immunophenotypic features consistent with marginal zone derivation in otherwise healthy individuals. CBL-MZ is commonly associated with paraproteinemia, usually immunoglobulin M (IgM), raising diagnostic difficulties from Waldenstrom macroglobulinemia (WM). The aim of the present study was to determine the presence of MYD-88 L265P mutation in a well-characterized series of CBL-MZ to identify cases that may in fact represent WM. Fifty-three CBL-MZ cases were retrospectively evaluated. MYD-88 L265P mutation was determined by allele-specific polymerase chain reaction in blood and/or BM mononuclear cells. Almost half of the CBL-MZ cases (49%) were associated with paraproteinemia mainly of the IgM type (65%). MYD-88 L265P mutation was identified in 10 cases (19%). These cases may truly represent WM, whereas 43 cases (81%) are still classified as CBL-MZ. Mutated cases were all associated with paraproteinemia compared with 37% of the nonmutated ones (P <.0001). In addition, mutated cases displayed more frequently CD38 and CD25 positivity (P =.002 and P =.005, respectively). Moreover, cases without paraproteinemia presented more frequently with lymphocytosis, irrespective of the presence of the MYD-88 mutation (P =.02). The present study demonstrates that MYD-88 L265P mutation may represent the only sensitive marker for the differentiation of CBL-MZ from probable WM. However, further studies are warranted to better define the biological significance of MYD-88 L265P mutation and to clarify whether the presence of the mutation establishes WM diagnosis or that it can also be present in borderline cases associated with paraproteinemia. Copyright © 2016 John Wiley & Sons, Ltd.
Συγγραφείς:
Kalpadakis, C.
Pangalis, G.A.
Vassilakopoulos, T.P.
Roumelioti, M.
Sachanas, S.
Korkolopoulou, P.
Koulieris, E.
Moschogiannis, M.
Yiakoumis, X.
Tsirkinidis, P.
Pontikoglou, C.
Rondoyianni, D.
Papadaki, H.A.
Panayiotidis, P.
Angelopoulou, M.K.
Περιοδικό:
Journal of Hematology & Oncology
Εκδότης:
John Wiley and Sons Ltd
Λέξεις-κλειδιά:
CD38 antigen; immunoglobulin M; interleukin 2 receptor alpha; myeloid differentiation factor 88; MYD88 protein, human; myeloid differentiation factor 88, adult; aged; Article; cytopenia; female; gene mutation; human; human cell; immunoglobulin deficiency; immunophenotyping; major clinical study; male; marginal zone lymphoma; monoclonal b cell lymphocytosis; mononuclear cell; morphology; mutational analysis; paraproteinemia; polymerase chain reaction; priority journal; retrospective study; splenomegaly; Waldenstroem macroglobulinemia; B lymphocyte; genetics; lymphocytosis; marginal zone lymphoma; middle aged; mutation; pathology; very elderly, Aged; Aged, 80 and over; B-Lymphocytes; Female; Humans; Lymphocytosis; Lymphoma, B-Cell, Marginal Zone; Male; Middle Aged; Mutation; Myeloid Differentiation Factor 88; Retrospective Studies
