Journal
VIRCHOWS ARCHIV
Volume 479, Issue 1, Pages 133-145Publisher
SPRINGER
DOI: 10.1007/s00428-021-03022-8
Keywords
MYC; Mantle cell lymphoma; MCL; Blastoid; Terminal deoxynucleotidyl transferase; TdT; SOX11; CDKN2A; TP53; P53; Clonal evolution
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Funding
- German Ministry of Science and Education (BMBF) [036166B]
- Deutsche Krebshilfe (2003-2011)
- Cancer Research UK
- UK Department of Health on an Experimental Cancer Medicine Centre grant [C10604/A25151]
- MRC [MC_U132670597] Funding Source: UKRI
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Chromosomal breakpoints involving the MYC gene locus are common in B-cell lymphomas, associated with aggressive clinical course, while MYC rearrangements are rare in MCL. The MYC rearranged MCL cases in this study showed features such as high genomic-complexity, deletions involving the CDKN2A locus, high Ki-67 proliferation index, and frequent P53 expression.
Chromosomal breakpoints involving the MYC gene locus, frequently referred to as MYC rearrangements (MYC - R+), are a diagnostic hallmark of Burkitt lymphoma and recurrent in many other subtypes of B-cell lymphomas including follicular lymphoma, diffuse large B-cell lymphoma and other high-grade B-cell lymphomas and are associated with an aggressive clinical course. In remarkable contrast, in MCL, only few MYC - R+ cases have yet been described. In the current study, we have retrospectively analysed 16 samples (MYC - R+, n = 15, MYC - R-, n = 1) from 13 patients and describe their morphological, immunophenotypic and (molecular) genetic features and clonal evolution patterns. Thirteen out of fifteen MYC - R+ samples showed a non-classical cytology including pleomorphic (centroblastic, immunoblastic), anaplastic or blastoid. MYC translocation partners were IG-loci in 4/11 and non-IG loci in 7/11 analysed cases. The involved IG-loci included IGH in 3 cases and IGL in one case. PAX5 was the non-IG partner in 2/7 patients. The MYC - R+ MCL reported herein frequently displayed characteristics associated with an aggressive clinical course including high genomic-complexity (6/7 samples), frequent deletions involving the CDKN2A locus (7/10 samples), high Ki-67 proliferation index (12/13 samples) and frequent P53 expression (13/13 samples). Of note, in 4/14 samples, SOX11 was not or only focally expressed and 3/13 samples showed focal or diffuse TdT-positivity presenting a diagnostic challenge as these features could point to a differential diagnosis of diffuse large B-cell lymphoma and/or lymphoblastic lymphoma/leukaemia.
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