title: Segmental tandem triplication of the MLL gene in an intravascular large B-cell lymphoma with multisystem involvement: a comprehensive morphologic, immunophenotypic, cytogenetic, and molecular cytogenetic antemortem study.
abstract: An association between intravascular large B-cell lymphoma (IVLBCL) and the mixed lineage leukemia (MLL) gene has never been demonstrated. Here, we report an IVLBCL in a 47-year-old Asian man. Morphologically, the atypical lymphoid infiltrate was entirely confined in the lumina of capillaries, small vessels, and sinusoidal space. Within the kidney, the neoplastic lymphoid cells exhibited both the glomerular and peritubular capillary distribution pattern. Conventional cytogenetic analysis from the bone marrow aspirates displayed a complex karyotype, with a notable triple tandem repeat at band segment q22-q25 of chromosome 11. Fluorescence in situ hybridization with an MLL probe set, performed on both interphase cells and metaphase spreads, confirmed the presence of 3 copies of the MLL gene on the derivative chromosome 11. From this finding and 3 other IVLBCL cases reported in the literature, we conclude that MLL may play an important role in the lymphomagenesis of IVLBCL at least in a subset of cases.
authors.affiliation: Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Deisch
authors.forename: Franklin Buddy
authors.initials: FB
authors.lastname: Fuda
authors.forename: Weina
authors.initials: W
authors.lastname: Chen
authors.forename: Nitin
authors.initials: N
authors.lastname: Karandikar
authors.forename: Arnaldo A
authors.initials: AA
authors.lastname: Arbini
authors.forename: Xin J
authors.initials: XJ
authors.lastname: Zhou
authors.forename: Huan-You
authors.initials: HY
authors.lastname: Wang
mesh_terms: D000911:Antibodies, Monoclonal / Q000008:administration & dosage; D058846:Antibodies, Monoclonal, Murine-Derived; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000378:metabolism; D001706:Biopsy; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003520:Cyclophosphamide / Q000627:therapeutic use; D004317:Doxorubicin / Q000627:therapeutic use; D020440:Gene Duplication; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D008175:Lung Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D016403:Lymphoma, Large B-Cell, Diffuse / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics* / Q000378:metabolism; D011241:Prednisone / Q000627:therapeutic use; D000069283:Rituximab; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D014750:Vincristine / Q000627:therapeutic use
chemical_list: D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D014408:Biomarkers, Tumor; C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D000069283:Rituximab; D014750:Vincristine; D004317:Doxorubicin; D003520:Cyclophosphamide; D011495:Histone-Lysine N-Methyltransferase; D011241:Prednisone