HAEM5:Paediatric nodal marginal zone lymphoma: Difference between revisions

* Asymptomatic in most<ref name=":6" /><ref name=":8" /><ref name=":11" /><ref name=":12" />

* Peripheral lymphadenopathy<ref name=":6" /><ref name=":8" /><ref name=":11" /><ref name=":12">{{Cite journal|last=Attarbaschi|first=Andishe|last2=Abla|first2=Oussama|last3=Arias Padilla|first3=Laura|last4=Beishuizen|first4=Auke|last5=Burke|first5=G. A. Amos|last6=Brugières|first6=Laurence|last7=Bruneau|first7=Julie|last8=Burkhardt|first8=Birgit|last9=d'Amore|first9=Emanuele S. G.|date=08 2020|title=Rare non-Hodgkin lymphoma of childhood and adolescence: A consensus diagnostic and therapeutic approach to pediatric-type follicular lymphoma, marginal zone lymphoma, and nonanaplastic peripheral T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/32452165|journal=Pediatric Blood & Cancer|volume=67|issue=8|pages=e28416|doi=10.1002/pbc.28416|issn=1545-5017|pmid=32452165}}</ref>

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==Sites of Involvement==

* No chromosomal rearrangements or gene fusions associated with pNMZL<ref name=":0" />

* Clonal rearrangements of immunoglobulin (Ig) region detected in most cases<ref name=":3" /><ref name=":9" />

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

* No genomic findings currently assist in diagnosis, prognostication, or therapeutic decisions

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

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* Trisomy 3 and 18 are infrequently described chromosomal aberrations reported in pNMZL<ref name=":9" />

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==Characteristic Chromosomal Patterns==

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* No characteristic chromosomal aberrations or patterns reported

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==Gene Mutations (SNV / INDEL)==

* Genes reported to be altered in adult-type NMZL, including ''MLL2 (KMT2D), PTPRD, NOTCH2, KLF2,'' and ''BRAF'',<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=09 08, 2016|title=The genetics of nodal marginal zone lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/27335277|journal=Blood|volume=128|issue=10|pages=1362–1373|doi=10.1182/blood-2016-02-696757|issn=1528-0020|pmc=5016706|pmid=27335277}}</ref><ref>{{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=11 2018|title=High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations|url=https://pubmed.ncbi.nlm.nih.gov/29556019|journal=Leukemia|volume=32|issue=11|pages=2412–2426|doi=10.1038/s41375-018-0082-4|issn=1476-5551|pmc=6224405|pmid=29556019}}</ref> have not been described in pNMZL<ref name=":0" />

* Additional studies are needed to assess the spectrum of somatic variation in pNMZL. A single report evaluated the genetic landscape of pNMZL by whole exome sequencing (n=4) identified missense changes in the following genes: ''AMOTL1, SCAF1, SELPLG, FAM5B, KLHDC4, RAX, PEG3, CHPF, ACTRT3, NRCAM, CHMP1A, CISH, TTC17, NLE1<ref name=":0" />''

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==Epigenomic Alterations==

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* ''AMOTL1'' encodes angiomotin like-1 which associates with tight junctions and regulates the Hippo signaling pathway<ref>{{Cite journal|last=Yi|first=Chunling|last2=Troutman|first2=Scott|last3=Fera|first3=Daniela|last4=Stemmer-Rachamimov|first4=Anat|last5=Avila|first5=Jacqueline L.|last6=Christian|first6=Neepa|last7=Persson|first7=Nathalie Luna|last8=Shimono|first8=Akihiko|last9=Speicher|first9=David W.|date=2011-04-12|title=A tight junction-associated Merlin-angiomotin complex mediates Merlin's regulation of mitogenic signaling and tumor suppressive functions|url=https://pubmed.ncbi.nlm.nih.gov/21481793|journal=Cancer Cell|volume=19|issue=4|pages=527–540|doi=10.1016/j.ccr.2011.02.017|issn=1878-3686|pmc=3075552|pmid=21481793}}</ref><ref>{{Cite journal|last=Lv|first=Meng|last2=Shen|first2=Yanwei|last3=Yang|first3=Jiao|last4=Li|first4=Shuting|last5=Wang|first5=Biyuan|last6=Chen|first6=Zheling|last7=Li|first7=Pan|last8=Liu|first8=Peijun|last9=Yang|first9=Jin|date=2017|title=Angiomotin Family Members: Oncogenes or Tumor Suppressors?|url=https://pubmed.ncbi.nlm.nih.gov/28656002|journal=International Journal of Biological Sciences|volume=13|issue=6|pages=772–781|doi=10.7150/ijbs.19603|issn=1449-2288|pmc=5485632|pmid=28656002}}</ref>

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==Genetic Diagnostic Testing Methods==