Recent advances in understanding the biology of marginal zone lymphoma

Abstract

There are three different marginal zone lymphomas (MZLs): the extranodal MZL of mucosa-associated lymphoid tissue (MALT) type (MALT lymphoma), the splenic MZL, and the nodal MZL. The three MZLs share common lesions and deregulated pathways but also present specific alterations that can be used for their differential diagnosis. Although trisomies of chromosomes 3 and 18, deletions at 6q23, deregulation of nuclear factor kappa B, and chromatin remodeling genes are frequent events in all of them, the three MZLs differ in the presence of recurrent translocations, mutations affecting the NOTCH pathway, and the transcription factor Kruppel like factor 2 ( KLF2) or the receptor-type protein tyrosine phosphatase delta ( PTPRD). Since a better understanding of the molecular events underlying each subtype may have practical relevance, this review summarizes the most recent and main advances in our understanding of the genetics and biology of MZLs.

Cold agglutinin–associated B-cell lymphoproliferative disease shows highly recurrent gains of chromosome 3 and 12 or 18

“…7,8 Gain of this chromosome is also frequently found in marginal zone lymphoma (MZL) and diffuse large B-cell lymphoma of activated B-cell type. 15,16 Moreover, gain of chromosomes 12 and 18, demonstrated in our study, is also a feature of MZL. 15 Of note, gain of chromosomes 12 and 18 was mutually exclusive.…”

“…15,16 Moreover, gain of chromosomes 12 and 18, demonstrated in our study, is also a feature of MZL. 15 Of note, gain of chromosomes 12 and 18 was mutually exclusive. Furthermore, the high frequency of KMT2D mutation we previously reported in CAD 6 is also found in nodal MZL.…”

“…Furthermore, the high frequency of KMT2D mutation we previously reported in CAD 6 is also found in nodal MZL. 15 These findings, together with the immunophenotype of CAD-associated lymphoproliferative disease, suggest that the CAD-associated lymphoproliferative disease, although exclusively present in the bone marrow, might be related to MZL.…”

Marginal zone B-cell lymphoma: lessons from Western and Eastern diagnostic approaches

“…, respectively. [30][31][32][33][34][35] All these translocations converge on the activation of nuclear factor k-light-chain-enhancer of activated B-cells (NF-kB) pathway. 36 Many other rare translocations have been also reported in MALT lymphomas.…”

Lymphoma 2020: an update on recent advances in pathobiology and application to clinical practice

“…Although these neoplasms share a name and share immunophenotypic and some molecular findings, they are also distinct entities as was reviewed by Bertoni and colleagues. 8 Nakamura and Ponzoni do a wonderful job detailing the morphological and immunophenotypic features of the different types of MZL and present a comprehensive table summarising the molecular findings in these neoplasms. The authors enhance their authoritative discussion with high quality endoscopic, radiological and histological images.…”