Novel BLIMP1/PRDM1 gene mutations in B-cell lymphoma
CANCER GENETICS AND CYTOGENETICS
Authors: Tate, Genshu; Hirayama-Ohashi, Yoshiko; Kishimoto, Koji; Mitsuya, Toshiyuki
Abstract
B lymphocyte-induced maturation protein 1(BLIMP1)/PR domain containing I with zinc finger domain (PRDM1) is a transcriptional repressor with a SET domain and Kruppel-type zinc fingers. BLIMP1/PRDM1 is expressed in a subset of germinal center B cells and in all plasma cells, and it is required for terminal B-cell differentiation. Mutations of the BLIMP1 gene have been reported in patients with diffuse large B-cell lymphoma. Here, we describe novel imitations in the BLIMP1 acne in 2 of 15 (13%) cases of B-cell lymphoma (two cases of primary effusion lymphoma and 13 cases of diffuse large B-cell lymphoma). A tandem 10-base pair duplication (5'-GCTGAGTTTG-3') was found in exon 2 of the BLIMP1 gene in primary effusion B-cell lymphoma. We also found ill diffuse large B-cell lymphoma a single base substitution in exon 6 (1747C -> T) that Iresults in a somatic nonsense Mutation (Q583X). These findings indicate that mutational analysis of the BLIMP1 gene may he Useful for characterizing the molecular basis of B-cell lymphoma. (c) 2007 Elsevier Inc. All rights reserved.
Extranodal NK/T-cell lymphoma, nasal-type, revealed by cutaneous breast involvement
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
Authors: Freling, E.; Granel-Brocard, F.; Serrier, C.; Ortonne, N.; Barbaud, A.; Schmutz, J. -L.
Abstract
Background. - Extranodal NK/T-cell lymphoma (ENKTL) is a rare form of non-Hodgkin's lymphoma and carries a poor prognosis. Depending on the primary sites of anatomical involvement, it is subcategorized into nasal or extra-nasal ENKTL. Cutaneous involvement is the second localization reported for these lymphomas. Patients and methods. - A woman was admitted for erythematous infiltrative patches on the breasts having an ulcerative course. Cutaneous histopathology showed a dense, diffuse infiltrate of atypical lymphocytes. Immunohistochemistry revealed expression of specific markers for NK-cells and of cytotoxic molecules (TIA-1, granzyme B and perforin), lack of expression of T-cell markers (except positivity of cytoplasmic CD3 and CD2), and the presence of EBV-DNA in lymphoma cells. Positron emission tomography-computed tomography revealed sub- and supradiaphragmatic multi-organ involvement (kidneys, breasts, stomach, duodenum, lungs, pleural cavity, uterus, bones). No bone marrow infiltration was noted. PCR (polymerase chain reaction) showed high circulating levels of EBV-DNA in peripheral blood. A systemic nasal-type ENKTL was diagnosed. A chemotherapy regimen including high-dose methotrexate, oxaliplatin, gemcitabine, L-asparaginase and dexamethasone was started. Despite good initial therapeutic response, the outcome was rapidly fatal-with bone marrow involvement and multi-organ failure. Discussion. - Major cutaneous manifestations of ENKTL comprise erythematous infiltrative patches mimicking panniculitis or cellulitis and evolving towards ulceration or necrosis. Subcutaneous nodules may also be noted. Late diagnosis at an advanced stage accounts for the poorer prognosis in extra-nasal ENKTL. In the advanced stages, treatment is based on a chemotherapy regimen including L-asparaginase, possibly followed by autologous or allogeneic hematopoietic stem cell transplantation. (C) 2014 Elsevier Masson SAS. All rights reserved.