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| {{DISPLAYTITLE:High grade B-cell lymphoma with 11q aberrations}} | | {{DISPLAYTITLE:High grade B-cell lymphoma with 11q aberrations}} |
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| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
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| Daynna Wolff, PhD, Medical University of South Carolina | | Daynna Wolff, PhD, Medical University of South Carolina |
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| __TOC__
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| ==WHO Classification of Disease== | | ==WHO Classification of Disease== |
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| |} | | |} |
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| ==WHO Essential and Desirable Genetic Diagnostic Criteria==
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| <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
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| {| class="wikitable"
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| |WHO Essential Criteria (Genetics)*
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| |WHO Desirable Criteria (Genetics)*
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| |Other Classification
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| |}
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| <nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
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| ==Related Terminology== | | ==Related Terminology== |
| <span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
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| {| class="wikitable" | | {| class="wikitable" |
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| |Acceptable | | |Acceptable |
| | | | |Large B-cell lymphoma with 11q aberration |
| |- | | |- |
| |Not Recommended | | |Not Recommended |
| | | | |Burkitt-like lymphoma with 11q aberration; MYC-negative Burkitt lymphoma (obsolete) |
| |} | | |} |
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| ==Gene Rearrangements== | | ==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>
| | BLL-11q has no known gene fusions at this time. |
| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| !Established Clinical Significance Per Guidelines - Yes or No (Source) | | !Established Clinical Significance Per Guidelines - Yes or No (Source) |
| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
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| |<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)
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| |<span class="blue-text">EXAMPLE:</span> Common (CML)
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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| |<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
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| |<span class="blue-text">EXAMPLE:</span>
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| 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).
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| |-
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| |<span class="blue-text">EXAMPLE:</span> ''CIC''
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| |<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
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| |<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''.
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| |<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
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| |<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
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| |<span class="blue-text">EXAMPLE:</span> D
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| |<span class="blue-text">EXAMPLE:</span>
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| ''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).
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| |<span class="blue-text">EXAMPLE:</span> ''ALK''
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| |<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
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| Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
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| |<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.
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| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
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| |<span class="blue-text">EXAMPLE:</span> T
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| |<span class="blue-text">EXAMPLE:</span>
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| Both balanced and unbalanced forms are observed by FISH (add references).
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| |-
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| |<span class="blue-text">EXAMPLE:</span> ''ABL1''
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| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<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.
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| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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| |} | | |} |
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| BLL-11q has no known gene fusions at this time.
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| {| class="wikitable sortable"
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| !Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
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| !Diagnostic Significance (Yes, No or Unknown)
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| !Prognostic Significance (Yes, No or Unknown)
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| !Therapeutic Significance (Yes, No or Unknown)
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| !Notes
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| |}<br />
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| ==Individual Region Genomic Gain/Loss/LOH== | | ==Individual Region Genomic Gain/Loss/LOH== |
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| !Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)''' | | !Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s) |
| !'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T''' | | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T |
| !'''Established Clinical Significance Per Guidelines - Yes or No (Source)''' | | !Established Clinical Significance Per Guidelines - Yes or No (Source) |
| !'''Clinical Relevance Details/Other Notes''' | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | |<span class="blue-text">EXAMPLE:</span> |
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| !Chromosomal Pattern | | !Chromosomal Pattern |
| !Molecular Pathogenesis | | !Molecular Pathogenesis |
| !'''Prevalence -''' | | !Prevalence - |
| '''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
| | Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
| !'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T''' | | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T |
| !'''Established Clinical Significance Per Guidelines - Yes or No (Source)''' | | !Established Clinical Significance Per Guidelines - Yes or No (Source) |
| !'''Clinical Relevance Details/Other Notes''' | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | |<span class="blue-text">EXAMPLE:</span> |
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
| !Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -''' | | !Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence - |
| '''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
| | Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
| !'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T ''' | | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T |
| !'''Established Clinical Significance Per Guidelines - Yes or No (Source)''' | | !Established Clinical Significance Per Guidelines - Yes or No (Source) |
| !'''Clinical Relevance Details/Other Notes''' | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span>''EGFR'' | | |<span class="blue-text">EXAMPLE:</span>''EGFR'' |
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
| !Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations''' | | !Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC / TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations |
| !'''Diagnostic Significance (Yes, No or Unknown)''' | | !Diagnostic Significance (Yes, No or Unknown) |
| !Prognostic Significance (Yes, No or Unknown) | | !Prognostic Significance (Yes, No or Unknown) |
| !Therapeutic Significance (Yes, No or Unknown) | | !Therapeutic Significance (Yes, No or Unknown) |
