CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations

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Authors: Yoonmi Seok ; Juwon Kim ; Jong Rak Choi ; Yu Ri Kim ; Seo-Jin Park ; Sue Jung Kim ; Jaewoo song ; Kyung-A Lee

MeSH: Aged, 80 and over ; Bone Marrow/immunology ; Bone Marrow/metabolism ; CD5 Antigens/metabolism* ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Gene Rearrangement ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, Mantle-Cell/diagnosis* ; Lymphoma, Mantle-Cell/genetics ; Lymphoma, Mantle-Cell/immunology ; Male ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogene Proteins c-myc/genetics* ; Translocation, Genetic

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.