|
|
| Line 1: |
Line 1: |
| {{DISPLAYTITLE:Myelodysplastic neoplasm with biallelic TP53 inactivation}} | | {{DISPLAYTITLE:Myelodysplastic neoplasm with biallelic TP53 inactivation}} |
| | |
| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
|
| |
|
| Line 162: |
Line 163: |
|
| |
|
| ==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>
| | There are no known recurrent rearrangements resulting in gene fusions associated with MDS-bi''TP53''. |
| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
| Line 170: |
Line 171: |
| !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> ''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
| |
| |
| |
| |
| |
| |- | | |- |
| | | | | |
| Line 222: |
Line 182: |
| |} | | |} |
|
| |
|
| There are no known recurrent rearrangements resulting in gene fusions associated with MDS-bi''TP53''.
| | <br /> |
| {| class="wikitable"
| |
| |'''Chromosomal Rearrangement'''
| |
| |'''Genes in Fusion'''
| |
| | |
| '''(5’ or 3’ Segments)'''
| |
| |'''Pathogenic Derivative'''
| |
| |'''Prevalence'''
| |
| |'''Diagnostic Significance (Yes, No or Unknown)'''
| |
| |'''Prognostic Significance (Yes, No or Unknown)'''
| |
| |'''Therapeutic Significance (Yes, No or Unknown)'''
| |
| |'''Notes'''
| |
| |-
| |
| |<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
| |
| |<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR
| |
| |<span class="blue-text">EXAMPLE:</span> der(22)
| |
| |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
| |
| | |
| <span class="blue-text">EXAMPLE:</span> 30% (add reference)
| |
| |Yes
| |
| |No
| |
| |Yes
| |
| |<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).
| |
| |}
| |
| | |
| ==Individual Region Genomic Gain/Loss/LOH== | | ==Individual Region Genomic Gain/Loss/LOH== |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> |
| Line 630: |
Line 564: |
| | | |
| <nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with biallelic TP53 inactivation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_biallelic_TP53_inactivation</nowiki>. | | <nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with biallelic TP53 inactivation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_biallelic_TP53_inactivation</nowiki>. |
| [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]] | | [[Category:HAEM5]] |
| | [[Category:DISEASE]] |
| | [[Category:Diseases M]] |
