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CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations
Authors:Seok Yoonmi  Kim Juwon  Choi Jong Rak  Kim Yu Ri  Park Seo-Jin  Kim Sue Jung  Song Jaewoo  Lee Kyung-A
Institution:Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
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.
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