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.
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.
Deisch
Jeremy
J
Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.
Fuda
Franklin Buddy
FB
Chen
Weina
W
Karandikar
Nitin
N
Arbini
Arnaldo A
AA
Zhou
Xin J
XJ
Wang
Huan-You
HY
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
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