HAEM5:In situ mantle cell neoplasm: Difference between revisions

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 ==Gene Rearrangements==
+Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
+{| class="wikitable sortable"
+|-
+!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
+!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
+!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
+!Established Clinical Significance Per Guidelines - Yes or No (Source)
+!Clinical Relevance Details/Other Notes
+|-
+|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
+|<span class="blue-text">EXAMPLE:</span> Common (CML)
+|<span class="blue-text">EXAMPLE:</span> D, P, T
+|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
+|<span class="blue-text">EXAMPLE:</span>
+The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
+|-
+|<span class="blue-text">EXAMPLE:</span> ''CIC''
+|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
+|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
+|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
+|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
+|<span class="blue-text">EXAMPLE:</span> D
+|
+|<span class="blue-text">EXAMPLE:</span>
+''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
+|-
+|<span class="blue-text">EXAMPLE:</span> ''ALK''
+|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
+Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
+|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
+|<span class="blue-text">EXAMPLE:</span> N/A
+|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
+|<span class="blue-text">EXAMPLE:</span> T
+|
+|<span class="blue-text">EXAMPLE:</span>
+Both balanced and unbalanced forms are observed by FISH (add references).
+|-
+|<span class="blue-text">EXAMPLE:</span> ''ABL1''
+|<span class="blue-text">EXAMPLE:</span> N/A
+|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
+|<span class="blue-text">EXAMPLE:</span> N/A
+|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
+|<span class="blue-text">EXAMPLE:</span> D, P, T
+|
+|
+|-
+|
+|
+|
+|
+|
+|
+|
+|
+|}
 The balanced translocation t(11;14)(q13;q32) is characteristic of mantle cell lymphoma and was identified in all cases of histologically identified in situ mantle cell neoplasm (whenever it was examined for in addition to the overexpression of cyclin D1 protein).
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 |Not yet known, if any
 |The t(11;14) is characteristic of in situ mantle cell neoplasm and overt mantle cell lymphoma in the appropriate morphology and clinical context. However, this translocation may also be present in other lymphoid neoplasms and has also been identified in healthy individuals at a lower incidence than the t(14;18) translocation in healthy individuals.<ref>{{Cite journal|last=Hirt|first=Carsten|last2=Schüler|first2=Frank|last3=Dölken|first3=Lars|last4=Schmidt|first4=Christian A.|last5=Dölken|first5=Gottfried|date=2004-08-01|title=Low prevalence of circulating t(11;14)(q13;q32)-positive cells in the peripheral blood of healthy individuals as detected by real-time quantitative PCR|url=https://pubmed.ncbi.nlm.nih.gov/15265798|journal=Blood|volume=104|issue=3|pages=904–905|doi=10.1182/blood-2004-02-0738|issn=0006-4971|pmid=15265798}}</ref><ref>{{Cite journal|last=Nambiar|first=Mridula|last2=Raghavan|first2=Sathees C.|date=2010-01|title=Prevalence and analysis of t(14;18) and t(11;14) chromosomal translocations in healthy Indian population|url=https://pubmed.ncbi.nlm.nih.gov/19488754|journal=Annals of Hematology|volume=89|issue=1|pages=35–43|doi=10.1007/s00277-009-0755-1|issn=1432-0584|pmid=19488754}}</ref><ref>{{Cite journal|last=Lecluse|first=Y.|last2=Lebailly|first2=P.|last3=Roulland|first3=S.|last4=Gac|first4=A.-C.|last5=Nadel|first5=B.|last6=Gauduchon|first6=P.|date=2009-06|title=t(11;14)-positive clones can persist over a long period of time in the peripheral blood of healthy individuals|url=https://pubmed.ncbi.nlm.nih.gov/19242498|journal=Leukemia|volume=23|issue=6|pages=1190–1193|doi=10.1038/leu.2009.31|issn=1476-5551|pmid=19242498}}</ref>
 |}
 ==Individual Region Genomic Gain/Loss/LOH==