HAEM5:Nodal marginal zone lymphoma: Difference between revisions

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Andrew Ly, DO and Shivani Golem, PhD, FACMG

==WHO Classification of Disease==

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|Not Recommended

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* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

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!Chromosomal Pattern

!Molecular Pathogenesis

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|<span class="blue-text">EXAMPLE:</span>''EGFR''

|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

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" />.

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

(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />

==Notes==

<nowiki>*</nowiki>''Citation of this Page'': “Nodal marginal zone lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Nodal_marginal_zone_lymphoma</nowiki>.