HAEM5:Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma: Difference between revisions

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{{DISPLAYTITLE:Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma}}
{{DISPLAYTITLE:Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma}}
[[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="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:Primary Cutaneous Anaplastic Large Cell Lymphoma]].
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==Definition / Description of Disease==
*Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a form of cutaneous T-cell lymphoma with majority (>75%) of tumor cells expressing CD30.
*CD30+ LPDs are a part of a spectrum of diseases with overlapping features and are associated with an excellent prognosis. The group includes lymphomatoid papulosis (LyP) and C-ALCL, which are distinguished by clinical features and disease course.
*C-ALCL is a distinct entity from systemic anaplastic large cell lymphoma (ALCL), which can have cutaneous involvement.
*Diagnosis must exclude large cell transformation of mycosis fungoides, which can express CD30.
*
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1">Arber DA, et al., (2017). Primary Cutaneous CD30-positive T-cell Lymphoproliferative Disorders, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th 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, p392-396.</ref><ref name=":2" /><ref name=":3">{{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://doi.org/10.1182/blood-2018-11-881268|journal=Blood|volume=133|issue=16|pages=1703–1714|doi=10.1182/blood-2018-11-881268|issn=0006-4971}}</ref><blockquote class="blockedit">
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==Synonyms / Terminology==
*Primary Cutaneous CD30-positive T-cell lymphoproliferative disorder
==Epidemiology / Prevalence==
*Second most common type of cutaneous T-cell lymphoma
*Median age: 60 years. Cases have been reported in children.
*Male:Female 2-3:1
*Disease-specific 5-year survival rate 95%
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==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>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
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*Solitary or localized nodules or tumors, with frequent ulceration. Multifocal lesions are seen in 20% of patients.
*Lesions may regress, either partially or completely, but cutaneous relapse is common.
*Extracutaneous dissemination is seen in 10-15% of cases, most cases involving regional lymph nodes.
*Associated with excellent prognosis, even in those with regional lymph node involvement or multifocal skin lesions.
*Anaplastic morphology does not impact disease course or prognosis.
*Distinguishing from LyP is important for therapy, as surgical excision and radiotherapy are first-line treatments in patients with C-ALCL.
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==Sites of Involvement==
*Limited to cutaneous sites, most frequently affecting the trunk, face, and extremities.
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==Morphologic Features==
*Sheets or nodular dermal infiltrate of large pleomorphic, anaplastic, or immunoblastic cells
*Irregularly shaped nuclei
*Abundant, pale to eosinophilic, cytoplasm
*Reactive lymphocytes in the periphery
*Ulcerated lesions may resemble lymphomatoid papulosis with increased inflammatory infiltrate composed of T-cells, histiocytes, eosinophils, and neutrophils, with fewer CD30+ cells.
*In cases harboring ''DUSP22-IRF4'' translocations, CD30+ cells commonly display biphasic morphology - small, cerebriform lymphocytes within the epidermis and large transformed cells in dermis.
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==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (activated T-cell markers)*||CD4, CD30 (diagnosis requires >75% expression of tumor cells)
|-
|Variable (pan T-cell markers)||CD2, CD3, CD5
|-
|Positive||Cytotoxic proteins<sup>†</sup>: Granzyme B, TIA1, perforin
CD15 (40%), IRF4/MUM1, CLA (cutaneous lymphocyte antigen)
|-
|Negative
|EMA<sup>‡</sup>, ALK<sup>‡</sup>, PAX5, EBV, CD56 (rare cases with coexpression)
|}
<nowiki>*</nowiki>Some cases may have a T-cell phenotype of CD4-/CD8+ or CD4+/CD8+ or null-cell phenotype.
<sup>†</sup>Cases with DUSP22-IRF4 rearrangement tend to express
<sup>‡</sup>EMA and ALK are typically positive in systemic ALCL, however there are rare cases of ALK+ primary C-ALCL.
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":2">{{Cite journal|last=Kempf|first=Werner|last2=Pfaltz|first2=Katrin|last3=Vermeer|first3=Maarten H.|last4=Cozzio|first4=Antonio|last5=Ortiz-Romero|first5=Pablo L.|last6=Bagot|first6=Martine|last7=Olsen|first7=Elise|last8=Kim|first8=Youn H.|last9=Dummer|first9=Reinhard|date=2011-10-13|title=EORTC, ISCL, and USCLC consensus recommendations for the treatment of primary cutaneous CD30-positive lymphoproliferative disorders: lymphomatoid papulosis and primary cutaneous anaplastic large-cell lymphoma*|url=https://ashpublications.org/blood/article/118/15/4024/29010/EORTC-ISCL-and-USCLC-consensus-recommendations-for|journal=Blood|language=en|volume=118|issue=15|pages=4024–4035|doi=10.1182/blood-2011-05-351346|issn=0006-4971|pmc=PMC3204726|pmid=21841159}}</ref><blockquote class="blockedit">
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==WHO Essential and Desirable Genetic Diagnostic Criteria==
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<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>
<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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*Rearrangements of ''DUSP22-IRF4'' locus on chromosome 6p25.3 are found in 25% of primary C-ALCL and in rare cases of LyP and transformed mycosis fungoides. The rearrangements have not found in systemic ALCL or other T-cell LPDs.<ref>{{Cite journal|last=Wada|first=David A.|last2=Law|first2=Mark E.|last3=Hsi|first3=Eric D.|last4=Dicaudo|first4=David J.|last5=Ma|first5=Linglei|last6=Lim|first6=Megan S.|last7=Souza|first7=Aieska de|last8=Comfere|first8=Nneka I.|last9=Weenig|first9=Roger H.|date=2011-04|title=Specificity of IRF4 translocations for primary cutaneous anaplastic large cell lymphoma: a multicenter study of 204 skin biopsies|url=https://pubmed.ncbi.nlm.nih.gov/21169992|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=4|pages=596–605|doi=10.1038/modpathol.2010.225|issn=1530-0285|pmc=3122134|pmid=21169992}}</ref>
*Rearrangements of ''DUSP22-IRF4'' locus on chromosome 6p25.3 are found in 25% of primary C-ALCL and in rare cases of LyP and transformed mycosis fungoides. The rearrangements have not found in systemic ALCL or other T-cell LPDs.<ref>{{Cite journal|last=Wada|first=David A.|last2=Law|first2=Mark E.|last3=Hsi|first3=Eric D.|last4=Dicaudo|first4=David J.|last5=Ma|first5=Linglei|last6=Lim|first6=Megan S.|last7=Souza|first7=Aieska de|last8=Comfere|first8=Nneka I.|last9=Weenig|first9=Roger H.|date=2011-04|title=Specificity of IRF4 translocations for primary cutaneous anaplastic large cell lymphoma: a multicenter study of 204 skin biopsies|url=https://pubmed.ncbi.nlm.nih.gov/21169992|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=4|pages=596–605|doi=10.1038/modpathol.2010.225|issn=1530-0285|pmc=3122134|pmid=21169992}}</ref>
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<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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<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=van Kester|first=Marloes S.|last2=Tensen|first2=Cornelis P.|last3=Vermeer|first3=Maarten H.|last4=Dijkman|first4=Remco|last5=Mulder|first5=Aat A.|last6=Szuhai|first6=Karoly|last7=Willemze|first7=Rein|last8=van Doorn|first8=Remco|date=2010-02|title=Cutaneous Anaplastic Large Cell Lymphoma and Peripheral T-Cell Lymphoma NOS Show Distinct Chromosomal Alterations and Differential Expression of Chemokine Receptors and Apoptosis Regulators|url=http://dx.doi.org/10.1038/jid.2009.270|journal=Journal of Investigative Dermatology|volume=130|issue=2|pages=563–575|doi=10.1038/jid.2009.270|issn=0022-202X}}</ref><blockquote class="blockedit">
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=van Kester|first=Marloes S.|last2=Tensen|first2=Cornelis P.|last3=Vermeer|first3=Maarten H.|last4=Dijkman|first4=Remco|last5=Mulder|first5=Aat A.|last6=Szuhai|first6=Karoly|last7=Willemze|first7=Rein|last8=van Doorn|first8=Remco|date=2010-02|title=Cutaneous Anaplastic Large Cell Lymphoma and Peripheral T-Cell Lymphoma NOS Show Distinct Chromosomal Alterations and Differential Expression of Chemokine Receptors and Apoptosis Regulators|url=http://dx.doi.org/10.1038/jid.2009.270|journal=Journal of Investigative Dermatology|volume=130|issue=2|pages=563–575|doi=10.1038/jid.2009.270|issn=0022-202X}}</ref><blockquote class="blockedit">
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*Clonal T-cell receptor gene rearrangement is detected in majority of cases. <ref>{{Cite journal|last=Greisser|first=Johannes|last2=Palmedo|first2=Gabriele|last3=Sander|first3=Christian|last4=Kutzner|first4=Heinz|last5=Kazakov|first5=Dmitry V.|last6=Roos|first6=Malgorzata|last7=Burg|first7=Günter|last8=Kempf|first8=Werner|date=2006-11|title=Detection of clonal rearrangement of T-cell receptor genes in the diagnosis of primary cutaneous CD30 lymphoproliferative disorders|url=https://pubmed.ncbi.nlm.nih.gov/17083688|journal=Journal of Cutaneous Pathology|volume=33|issue=11|pages=711–715|doi=10.1111/j.1600-0560.2006.00560.x|issn=0303-6987|pmid=17083688}}</ref>
*Clonal T-cell receptor gene rearrangement is detected in majority of cases. <ref>{{Cite journal|last=Greisser|first=Johannes|last2=Palmedo|first2=Gabriele|last3=Sander|first3=Christian|last4=Kutzner|first4=Heinz|last5=Kazakov|first5=Dmitry V.|last6=Roos|first6=Malgorzata|last7=Burg|first7=Günter|last8=Kempf|first8=Werner|date=2006-11|title=Detection of clonal rearrangement of T-cell receptor genes in the diagnosis of primary cutaneous CD30 lymphoproliferative disorders|url=https://pubmed.ncbi.nlm.nih.gov/17083688|journal=Journal of Cutaneous Pathology|volume=33|issue=11|pages=711–715|doi=10.1111/j.1600-0560.2006.00560.x|issn=0303-6987|pmid=17083688}}</ref>
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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.


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N/A
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*''DUSP22'' rearrangements associated with decreased production in the enzyme, dual-specificity phosphatase-22, which regulates MAPK signaling pathway.<ref name=":0" />
*''DUSP22'' rearrangements associated with decreased production in the enzyme, dual-specificity phosphatase-22, which regulates MAPK signaling pathway.<ref name=":0" />
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<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><blockquote class="blockedit">
<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1">Arber DA, et al., (2017). Primary Cutaneous CD30-positive T-cell Lymphoproliferative Disorders, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th 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, p392-396.</ref><blockquote class="blockedit">
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(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />


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==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_CD30-positive_T-cell_lymphoproliferative_disorder:_Primary_cutaneous_anaplastic_large_cell_lymphoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous CD30-positive T-cell lymphoproliferative disorder: Primary cutaneous anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_CD30-positive_T-cell_lymphoproliferative_disorder:_Primary_cutaneous_anaplastic_large_cell_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases P]]