MYC rearranged B-cell neoplasms: Impact of genetics on classification

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• 作者：Sabine Haberl ; Torsten Haferlach ; Anna Stengel ; Sabine Jeromin ; Wolfgang Kern ; Claudia Haferlach ; ^{claudia.haferlach@mll.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Double hit lymphoma ; MYC rearrangement ; B-cell neoplasms ; CLL ; Burkitt lymphoma
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：209
• 期：10
• 页码：431-439
• 全文大小：1243 K

文摘

A cohort comprising 156 patients with B-cell neoplasms harboring an MYC rearrangement was analyzed with respect to phenotypic presentation, molecular markers (TP53, MYC and ID3) and additional cytogenetic abnormalities (concomitantly occurring BCL2, BCL6 and/or CCND1 rearrangements; double, triple or quadruple hit lymphomas = multiple hit lymphomas). MYC translocations occurred as single hit (only MYC rearranged, 63%) or multiple hit lymphoma (37%) and presented as acute leukemia (AL) (14%), Burkitt lymphoma (30%), chronic lymphocytic leukemia (CLL) (21%) or other mature B-cell neoplasms (35%). Multiple hit lymphomas more frequently showed a complex karyotype compared to single hit lymphomas (62% vs. 28%, p < 0.001). Single hit Burkitt lymphomas presented with specific characteristics, by translocation of MYC to an immunoglobulin locus, predominantly a non-complex karyotype (23% vs. 67%, p = 0.012) and a significantly higher ID3 and TP53 mutation frequency (ID3mut: 49% vs. 0%, p = 0.002; TP53mut: 69% vs. 33%, p = 0.045). Additionally, MYC rearranged CLL presented as outstanding group by often showing a non-complex karyotype (85%), absence of ID3 mutations, a high frequency of SF3B1 mutations, and a frequent involvement of non-immunoglobulin loci as MYC-partner genes (61%). Consequently, genetic characteristics distinguish different subgroups of MYC rearranged B-cell neoplasms and therefore may contribute to a new classification system.