HAEM5:Sezary syndrome: Difference between revisions
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{{DISPLAYTITLE:Sezary syndrome}} | {{DISPLAYTITLE:Sezary syndrome}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Sézary Syndrome]]. | ||
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|Subtype(s) | |Subtype(s) | ||
|Sezary syndrome | |Sezary syndrome | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Clonal T cell receptor gene (TCR) rearrangement is characteristic of SS. Characteristically, ''PLS3'', ''DNM3'', ''TWIST1'', and ''EPHA4'' are overexpressed, and ''STAT4'' is underexpressed. | Clonal T cell receptor gene (TCR) rearrangement is characteristic of SS. Characteristically, ''PLS3'', ''DNM3'', ''TWIST1'', and ''EPHA4'' are overexpressed, and ''STAT4'' is underexpressed. | ||
Balanced translocations have not been detected in SS<ref name=":0" />. | Balanced translocations have not been detected in SS<ref name=":0">1. Arber DA, et al., (2017). Sézary syndrome, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4<sup>th</sup> edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p390-391. </ref>. | ||
Gene fusion between CTLA4 and CD28 is highly expressed. Additional fusion events include TYK2-UPF1, COL25A1-NFKB2, FASN-SGMS1, SMS1-ZEB1, SPATA21-RASA2, PITRM1-HK1, and BCR-NDUFAF6<ref name=":2" />. | Gene fusion between CTLA4 and CD28 is highly expressed. Additional fusion events include TYK2-UPF1, COL25A1-NFKB2, FASN-SGMS1, SMS1-ZEB1, SPATA21-RASA2, PITRM1-HK1, and BCR-NDUFAF6<ref name=":2">{{Cite journal|displayauthors=1|last=Prasad|first=Aparna|date=2016|title=Identification of Gene Mutations and Fusion Genes in Patients with Sezary Syndrome|url=|journal=Journal of Investigative Dermatology|volume=136|pages=|via=}}</ref>. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | ||
* Chromosomal Rearrangements (Gene Fusions) | * Chromosomal Rearrangements (Gene Fusions) | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
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* Gene Mutations (SNV/INDEL)}}</blockquote> | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
SS is aggressive; however, prognosis is variable and largely depends on stage. A median survival of 32 months and a 5-year survival rate of 10-30% has been reported <ref name=":0" />. Death usually results from opportunistic infections, as SS patients are at an increased risk for infection due to underlying immune dysfunction<ref name=":1" />. Lymph node and visceral involvement are poor prognostic factors, as is the degree of peripheral blood involvement by Sézary cells. Bone marrow involvement is of unknown prognostic relevance <ref name=":0" />. | SS is aggressive; however, prognosis is variable and largely depends on stage. A median survival of 32 months and a 5-year survival rate of 10-30% has been reported <ref name=":0" />. Death usually results from opportunistic infections, as SS patients are at an increased risk for infection due to underlying immune dysfunction<ref name=":1">1. Rook, AH and Olsen, EA. Clinical presentation, pathologic features, and Diagnosis of Sézary syndrome. UpToDate. Uptodate.com. Last updated: June 24, 2020. Date accessed: January 29, 2021. </ref>. Lymph node and visceral involvement are poor prognostic factors, as is the degree of peripheral blood involvement by Sézary cells. Bone marrow involvement is of unknown prognostic relevance <ref name=":0" />. | ||
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Recurrent gain-of-function mutations in SS include ''PLGC1'', ''CD28'', and ''TNFRSF1B''. Recurrent loss-of-function mutations include ''ARID1A'', which has been observed in 40% of SS cases<ref name=":0" />. | Recurrent gain-of-function mutations in SS include ''PLGC1'', ''CD28'', and ''TNFRSF1B''. Recurrent loss-of-function mutations include ''ARID1A'', which has been observed in 40% of SS cases<ref name=":0" />. | ||
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Numerical and structural alterations are common in SS. These include loss of 1p, 6q, and 10q with gains of 7 and 8q<ref name=":4">{{Cite journal|displayauthors=1|last=Almeida|first=Ana|date=December 2015|title=The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome|url=|journal=Nature Genetics|volume=47|pages=|via=}}</ref><ref name=":0" />. Isochromosome 17q is a recurrent finding in SS<ref name=":0" />. | Numerical and structural alterations are common in SS. These include loss of 1p, 6q, and 10q with gains of 7 and 8q<ref name=":4">{{Cite journal|displayauthors=1|last=Almeida|first=Ana|date=December 2015|title=The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome|url=|journal=Nature Genetics|volume=47|pages=|via=}}</ref><ref name=":0" />. Isochromosome 17q is a recurrent finding in SS<ref name=":0" />. | ||
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|}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. | |}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. | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
The mutational landscape of Sezary syndrome is complex and over 1000 different gene mutations have been identified. Mutational signature characterized by C>T substitutions at NpCpG trinucleotides and C>A substitutions at CpCpN trinucleotides and C>T substitutions at CpCpN and TpCpN trinulceotides have been identified<ref name=":4" />. | The mutational landscape of Sezary syndrome is complex and over 1000 different gene mutations have been identified. Mutational signature characterized by C>T substitutions at NpCpG trinucleotides and C>A substitutions at CpCpN trinucleotides and C>T substitutions at CpCpN and TpCpN trinulceotides have been identified<ref name=":4" />. | ||
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Recurrent mutations in TP53, ITPR1, DSC1 and PKHD1L1 are found in a cohort study by Prasad et al. The study found damaging mutations to ITPR1 in two Sezary Syndrome patients. ITPR1 mediates calcium release from the endoplasmic reticulum and may be functional partners with BCL2, which is an apoptosis suppressor. | Recurrent mutations in TP53, ITPR1, DSC1 and PKHD1L1 are found in a cohort study by Prasad et al. The study found damaging mutations to ITPR1 in two Sezary Syndrome patients. ITPR1 mediates calcium release from the endoplasmic reticulum and may be functional partners with BCL2, which is an apoptosis suppressor. | ||
Mutations in the p53, p15, p16, JunB, and PTEN genes are generally found in late-stage disease, suggesting that they are secondary genetic events after disease initiation<ref name=":3" />. | Mutations in the p53, p15, p16, JunB, and PTEN genes are generally found in late-stage disease, suggesting that they are secondary genetic events after disease initiation<ref name=":3">{{Cite journal|displayauthors=1|last=Hwang|first=Sam|date=March 15, 2008|title=Mycosis fungicides and Sezary syndrome|url=|journal=Lancet|volume=371|pages=|via=}}</ref>. | ||
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Loss of Fas expression, which is involved in T-cell apoptotic pathways, has also been reported. Specifically, changes affecting the Fas ligand is seen in 50-83% of cases. Loss of Fas expression is seen in 14-59% of cases<ref name=":3" />. | Loss of Fas expression, which is involved in T-cell apoptotic pathways, has also been reported. Specifically, changes affecting the Fas ligand is seen in 50-83% of cases. Loss of Fas expression is seen in 14-59% of cases<ref name=":3" />. | ||
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<nowiki>*</nowiki>''Citation of this Page'': “Sezary syndrome”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Sezary_syndrome</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Sezary syndrome”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Sezary_syndrome</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases S]] | [[Category:HAEM5]] | ||
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