HAEM5:Nodal marginal zone lymphoma: Difference between revisions

==Epidemiology / Prevalence==

==Clinical Features==

*Asymptomatic, localized or generalized lymphadenopathy

The presence of a primary extranodal marginal zone lymphoma should be ruled out due to the possibility of a nodal dissemination of a MALT lymphoma occurring in patients with a history of Sjogren syndrome and Hashimoto thyroiditis<ref name=":0" />.

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==Sites of Involvement==

==Immunophenotype==

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!Finding

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==Chromosomal Rearrangements (Gene Fusions)==

*Recurrent chromosomal translocations that are frequent in other lymphoid malignancies and associated with extranodal MZL are not detected<ref name=":0" /><ref name=":2">{{Cite journal|last=Pillonel|first=V.|last2=Juskevicius|first2=D.|last3=Ng|first3=C. K. Y.|last4=Bodmer|first4=A.|last5=Zettl|first5=A.|last6=Jucker|first6=D.|last7=Dirnhofer|first7=S.|last8=Tzankov|first8=A.|date=2018-11|title=High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations|url=http://www.nature.com/articles/s41375-018-0082-4|journal=Leukemia|language=en|volume=32|issue=11|pages=2412–2426|doi=10.1038/s41375-018-0082-4|issn=0887-6924|pmc=PMC6224405|pmid=29556019}}</ref>.

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

*None.

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==Individual Region Genomic Gain / Loss / LOH==

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==Characteristic Chromosomal Patterns==

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==Gene Mutations (SNV / INDEL)==

Whole-exome sequencing (WES) study have identified mutations involved in NOTCH, nuclear factor κB (NF-κB), B-cell receptors and toll like receptor pathways . In one study, 16% (4/25) of cases identified a  BRAF (V600E) mutation with associated strong IgD expression. In one of the four BRAF positive mutation, two non-hotspot mutations were detected (L597Q and N581I) which was previously found in BRAF V600 wild-type melanoma.  In the same study, mutations of KMT2D (7/25, 28%), TET2 (5/25, 20%), and EZH2 (5/25, 20%) were among the more frequent mutated genes. CREBBP, TNFRSF14, FAS, TNFAIP3, KLF2, and CXCR4 mutations were also detected<ref name=":2" />. In another study, which investigated genetic lesions in 35 patients with NMZL, PTPRD mutations were found in 14.3% (5/35) of patients and PTPRD locus deletions were found in 5.7% (2/35) of patients<ref>{{Cite journal|last=Spina|first=Valeria|last2=Khiabanian|first2=Hossein|last3=Messina|first3=Monica|last4=Monti|first4=Sara|last5=Cascione|first5=Luciano|last6=Bruscaggin|first6=Alessio|last7=Spaccarotella|first7=Elisa|last8=Holmes|first8=Antony B.|last9=Arcaini|first9=Luca|date=2016-09-08|title=The genetics of nodal marginal zone lymphoma|url=https://ashpublications.org/blood/article/128/10/1362/35315/The-genetics-of-nodal-marginal-zone-lymphoma|journal=Blood|language=en|volume=128|issue=10|pages=1362–1373|doi=10.1182/blood-2016-02-696757|issn=0006-4971|pmc=PMC5016706|pmid=27335277}}</ref>. Mutations were also identified in another study for NFKBIE and ITPR2 mutations involved in the NF-κB pathway and B-cell receptor mediated calcium signal pathway. However, in this study they did not find any PTPRD mutations or BRAF mutations, demonstrating the diverseness of the disease<ref>{{Cite journal|last=Koh|first=Jiwon|last2=Jang|first2=Insoon|last3=Choi|first3=Seongmin|last4=Kim|first4=Sehui|last5=Jang|first5=Ingeon|last6=Ahn|first6=Hyun Kyung|last7=Lee|first7=Cheol|last8=Paik|first8=Jin Ho|last9=Kim|first9=Chul Woo|date=2020-06-23|title=Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma|url=https://www.mdpi.com/2072-6694/12/6/1669|journal=Cancers|language=en|volume=12|issue=6|pages=1669|doi=10.3390/cancers12061669|issn=2072-6694|pmc=PMC7352856|pmid=32585984}}</ref>. No BRAF mutations have yet to be identified in other studies on NMZL<ref name=":2" />.

Immunoglobulin genes are clonally rearranged consisting of mutated IGHV3 and IGHV4 family members, particularly IGHV4-34 and cases associated with hepatitis C use IGHV1-69<ref name=":0" />.

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==Epigenomic Alterations==

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*NF-κB pathway and B-cell receptor mediated calcium signal pathway.

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==Genetic Diagnostic Testing Methods==