title: CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations.
abstract: The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Yoonmi
authors.initials: Y
authors.lastname: Seok
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
authors.forename: Yu Ri
authors.initials: YR
authors.lastname: Kim
authors.forename: Seo-Jin
authors.initials: SJ
authors.lastname: Park
authors.forename: Sue Jung
authors.initials: SJ
authors.lastname: Kim
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
mesh_terms: D000369:Aged, 80 and over; D001853:Bone Marrow / Q000276:immunology / Q000378:metabolism; D018956:CD5 Antigens / Q000378:metabolism*; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D002893:Chromosomes, Human, Pair 3; D015321:Gene Rearrangement; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D020522:Lymphoma, Mantle-Cell / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D018956:CD5 Antigens; C529133:IGH-CCND1 fusion protein, human; C489427:MYC protein, human; D015514:Oncogene Proteins, Fusion; D016271:Proto-Oncogene Proteins c-myc