Compendium of Cancer Genome Aberrations

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HAEM5:Primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder (view source)

Revision as of 14:13, 11 June 2024

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→‎Genes and Main Pathways Involved
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==Definition / Description of Disease==
 
==Definition / Description of Disease==
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An indolent primary cutaneous CD4+ T-cell lymphoproliferative disorder for which conservative treatment such as excision and local radiation is known to be effective. They express at least one follicular T-helper (TFH) marker, except for CD10, and thus is suspected to arise from TFH cells. 
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Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
 
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==
 
Primary cutaneous CD4+ small/medium T-cell lymphoma (not preferred due to indolent clinical course)<ref name=":0">Swerdlow, S.H.  et al. WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed), pp.401</ref>
 
Primary cutaneous CD4+ small/medium T-cell lymphoma (not preferred due to indolent clinical course)<ref name=":0">Swerdlow, S.H.  et al. WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed), pp.401</ref>
 
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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Rare disease, comprising approximately 2-3% of all cutaneous lymphomas. <ref name=":0" />
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Previously considered an uncommon disease but may be underestimated.
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Comprising up to 6% of cutaneous T-cell lymphomas (CTCLs). <ref>{{Cite journal|last=Willemze|first=Rein|last2=Cerroni|first2=Lorenzo|last3=Kempf|first3=Werner|last4=Berti|first4=Emilio|last5=Facchetti|first5=Fabio|last6=Swerdlow|first6=Steven H.|last7=Jaffe|first7=Elaine S.|date=2019-04-18|title=The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/30635287/|journal=Blood|volume=133|issue=16|pages=1703–1714|doi=10.1182/blood-2018-11-881268|issn=1528-0020|pmc=6473500|pmid=30635287}}</ref>
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One study reported local prevalence of 12.5% of all CTCLs, making it the second most common cutaneous lymphoma following mycosis fungoides.<ref name=":1" />
 
==Clinical Features==
 
==Clinical Features==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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Solitary skin nodule/papule/plaque<ref name=":1" /><ref name=":0" />
 
Solitary skin nodule/papule/plaque<ref name=":1" /><ref name=":0" />
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Multiple lesions in a small number of patients<ref name=":1" /><ref name=":0" />
 
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|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
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==Morphologic Features==
 
==Morphologic Features==
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* Dense dermal lymphoid infiltrate, often with nodular or diffuse pattern
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*Dense dermal lymphoid infiltrate, often with nodular or diffuse pattern<ref name=":2">{{Cite journal|last=Beltraminelli|first=Helmut|last2=Leinweber|first2=Bernd|last3=Kerl|first3=Helmut|last4=Cerroni|first4=Lorenzo|date=2009-06|title=Primary cutaneous CD4+ small-/medium-sized pleomorphic T-cell lymphoma: a cutaneous nodular proliferation of pleomorphic T lymphocytes of undetermined significance? A study of 136 cases|url=https://pubmed.ncbi.nlm.nih.gov/19461234|journal=The American Journal of Dermatopathology|volume=31|issue=4|pages=317–322|doi=10.1097/DAD.0b013e31819f19bb|issn=1533-0311|pmid=19461234}}</ref><ref name=":3">{{Cite journal|last=Cetinözman|first=Fatma|last2=Jansen|first2=Patty M.|last3=Willemze|first3=Rein|date=2012-01|title=Expression of programmed death-1 in primary cutaneous CD4-positive small/medium-sized pleomorphic T-cell lymphoma, cutaneous pseudo-T-cell lymphoma, and other types of cutaneous T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/21989349|journal=The American Journal of Surgical Pathology|volume=36|issue=1|pages=109–116|doi=10.1097/PAS.0b013e318230df87|issn=1532-0979|pmid=21989349}}</ref>
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* Tends to extend to subcutaneous tissue
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*Tends to extend to subcutaneous tissue<ref name=":3" /><ref name=":2" />
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* Lack significant epidermotropism
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*Lack significant epidermotropism and folliculotropism<ref name=":3" />
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* Predominantly small/medium-size T-cells with pleomorphism
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*Predominantly small/medium-size T-cells with mild-moderate cytological atypia<ref name=":3" /><ref name=":2" /><ref name=":1" /><ref name=":0" />
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* Low number of large lymphocytes allow (<30%)
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*Low number of large lymphocytes allowed (<30%)<ref name=":0" /><ref name=":2" /><ref name=":3" />
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* Often mixed background of CD8+ T-cells, B-cells plasma cells, histiocytes, +/-multinucleated giant cells<br />
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*Can have mixed background containing CD8+ T-cells, B-cells, plasma cells, histiocytes, +/-multinucleated giant cells or granulomatous change<ref name=":3" /><ref name=":2" />
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*Absent/few eosinophils<ref name=":3" />
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*Low proliferation rate; Ki67 <20%<ref name=":1" /><ref name=":0" />
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*By definitive, excludes cases that meet the diagnostic criteria for mycosis fungoides<ref name=":0" /><br />
    
==Immunophenotype==
 
==Immunophenotype==
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!Finding!!Marker
 
!Finding!!Marker
 
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|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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|Positive (universal)||CD3, CD4, PD-1, CXCL13, CD5, CD2<ref name=":3" /><ref name=":1" /><ref name=":0" />
 
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|-
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|Positive (subset)||
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|Positive (subset)||BCL6<ref name=":3" /><ref name=":1" /><ref name=":0" />
 
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|-
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|Negative (universal)||
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|Negative (universal)||CD8, CD30, CD10, cytotoxic proteins<ref name=":3" /><ref name=":1" /><ref name=":0" />
 
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|Negative (subset)||
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|Negative (subset)||CD7<ref name=":0" />
 
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==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
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!Notes
 
!Notes
 
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|-
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|<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)
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|Not found||N/A||N/A||N/A
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<span class="blue-text">EXAMPLE:</span> 30% (add reference)
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|N/A
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|<span class="blue-text">EXAMPLE:</span> Yes
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|N/A
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|<span class="blue-text">EXAMPLE:</span> No
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|N/A
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|<span class="blue-text">EXAMPLE:</span> Yes
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|N/A
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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).
   
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==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
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!Notes
 
!Notes
 
|-
 
|-
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|<span class="blue-text">EXAMPLE:</span>
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|Not found
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7
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|N/A
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|<span class="blue-text">EXAMPLE:</span> Loss
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|N/A
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|<span class="blue-text">EXAMPLE:</span>
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|N/A
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chr7:1-159,335,973 [hg38]
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|N/A
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|<span class="blue-text">EXAMPLE:</span>
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|N/A
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chr7
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|N/A
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|<span class="blue-text">EXAMPLE:</span> Yes
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|
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|<span class="blue-text">EXAMPLE:</span> Yes
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span>
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Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
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|-
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|<span class="blue-text">EXAMPLE:</span>
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8
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|<span class="blue-text">EXAMPLE:</span> Gain
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|<span class="blue-text">EXAMPLE:</span>
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chr8:1-145,138,636 [hg38]
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|<span class="blue-text">EXAMPLE:</span>
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chr8
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span>
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Common recurrent secondary finding for t(8;21) (add reference).
   
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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!Notes
 
!Notes
 
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|-
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|<span class="blue-text">EXAMPLE:</span>
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|N/A
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Co-deletion of 1p and 18q
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|N/A
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|<span class="blue-text">EXAMPLE:</span> Yes
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|N/A
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|<span class="blue-text">EXAMPLE:</span> No
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|N/A
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|<span class="blue-text">EXAMPLE:</span> No
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|N/A
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|<span class="blue-text">EXAMPLE:</span>
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See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
   
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==Gene Mutations (SNV / INDEL)==
 
==Gene Mutations (SNV / INDEL)==
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!Notes
 
!Notes
 
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|-
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|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
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|Not found
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<span class="blue-text">EXAMPLE:</span>
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|N/A
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|N/A
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''EGFR''; Exon 20 mutations
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|N/A
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|N/A
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<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
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|N/A
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|<span class="blue-text">EXAMPLE:</span> TSG
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|N/A
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|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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|N/A
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<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
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|N/A
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|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
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|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
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|<span class="blue-text">EXAMPLE:</span> Yes
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span> No
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|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
   
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) 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 cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
 
==Epigenomic Alterations==
 
==Epigenomic Alterations==
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Put your text here
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N/
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
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==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
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Put your text here
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PCR for clonal T-cell receptor gene rearrangement (clonal rearrangement present in majority of cases). <ref name=":1" />
 
==Familial Forms==
 
==Familial Forms==
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Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
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<span style="color:#0070C0">N/A </span>
 
==Additional Information==
 
==Additional Information==
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Put your text here
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N/A
 
==Links==
 
==Links==
 
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
 
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
Amanda.Xu
13

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