Piris Miguel A, Onaindía Arantza, Mollejo Manuela
Servicio de Anatomía Patológica, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Servicio de Anatomía Patológica, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Best Pract Res Clin Haematol. 2017 Mar-Jun;30(1-2):56-64. doi: 10.1016/j.beha.2016.09.005. Epub 2016 Nov 5.
Splenic marginal zone lymphoma (SMZL) is an indolent small B-cell lymphoma involving the spleen and bone marrow characterized by a micronodular tumoral infiltration that replaces the preexisting lymphoid follicles and shows marginal zone differentiation as a distinctive finding. SMZL cases are characterized by prominent splenomegaly and bone marrow and peripheral blood infiltration. Cells in peripheral blood show a villous cytology. Bone marrow and peripheral blood characteristic features usually allow a diagnosis of SMZL to be performed. Mutational spectrum of SMZL identifies specific findings, such as 7q loss and NOTCH2 and KLF2 mutations, both genes related with marginal zone differentiation. There is a striking clinical variability in SMZL cases, dependent of the tumoral load and performance status. Specific molecular markers such as 7q loss, p53 loss/mutation, NOTCH2 and KLF2 mutations have been found to be associated with the clinical variability. Distinction from Monoclonal B-cell lymphocytosis with marginal zone phenotype is still an open issue that requires identification of precise and specific thresholds with clinical meaning.
脾边缘区淋巴瘤（SMZL）是一种惰性小B细胞淋巴瘤，累及脾脏和骨髓，其特征为微结节状肿瘤浸润，取代原有的淋巴滤泡，并表现出边缘区分化这一独特表现。SMZL病例的特点是脾肿大明显，骨髓和外周血有浸润。外周血中的细胞呈现绒毛状细胞学特征。骨髓和外周血的特征通常有助于进行SMZL的诊断。SMZL的突变谱可识别出特定表现，如7号染色体长臂缺失以及NOTCH2和KLF2突变，这两个基因均与边缘区分化相关。SMZL病例存在显著的临床变异性，这取决于肿瘤负荷和身体状况。已发现特定的分子标志物，如7号染色体长臂缺失、p53缺失/突变、NOTCH2和KLF2突变，与临床变异性相关。与具有边缘区表型的单克隆B细胞淋巴细胞增多症的鉴别仍是一个有待解决的问题，这需要确定具有临床意义的精确且特异的阈值。
