title: CCND1-IGH Fusion-Amplification and MYC Copy Number Gain in a Case of Pleomorphic Variant Mantle Cell Lymphoma.
abstract: OBJECTIVE
  Mantle cell lymphoma (MCL) may present de novo or undergo progression to a clinically aggressive variant, known as a blastoid or pleomorphic variant. We report an unusual case of classic MCL in a 78-year-old man with a typical immunophenotype, including CD5 positivity, who subsequently relapsed with CD5-negative pleomorphic variant MCL.
  
  
  METHODS
  Biopsy specimens were evaluated using Wright-Giemsa-stained or H&E-stained sections, flow cytometry, immunohistochemistry, conventional cytogenetic, next-generation sequencing, and fluorescence in situ hybridization.
  
  
  RESULTS
  The patient continued to be refractory to intensive chemotherapy and radiation therapy. Initial conventional cytogenetic analysis showed a complex karyotype with amplification of the CCND1-IGH fusion gene on the der(14): 44, Y, t(X;2)(p22.3;q21), del(2)(p21), del(6)(p23), add(7)(p22),-9, del(9)(p22), add(11)(q13),-13, add(14)(p11.2), der(14)t(11;14)(q13;q32)hsr(14)(q32), add(18)(q23), add(21)(p11.1),-22,+mar[12]. A repeat biopsy revealed MCL, pleomorphic variant, with loss of CD5 expression and extra copies of the MYC CONCLUSIONS: CCND1-IGH fusion-amplification with MYC copy number gain is extremely rare and may play a role in disease progression in a subset of MCL cases.
authors.affiliation: From the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.|Department of Pathology, The First Affiliated Hospital and the College of Basic Medical Science of China Medical University, Shenyang.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Miao
authors.affiliation: From the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Pei
authors.initials: P
authors.lastname: Lin
authors.affiliation: From the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: From the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston.
authors.forename: L
authors.initials: L
authors.lastname: Jeffrey Medeiros
authors.affiliation: From the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston xlu4@mdanderson.org.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Lu
mesh_terms: D000368:Aged; D056915:DNA Copy Number Variations; D005784:Gene Amplification; D016259:Genes, myc / Q000235:genetics*; D006801:Humans; D020522:Lymphoma, Mantle-Cell / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*
chemical_list: C529133:IGH-CCND1 fusion protein, human; D015514:Oncogene Proteins, Fusion
keywords: CCND1-IGH gene fusion-amplification; CD5 negative; MYC copy number gain; Mantle cell lymphoma (MCL); Pleomorphic variant