Difference between revisions of "HAEM5:Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma"
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{{DISPLAYTITLE:Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma}} | {{DISPLAYTITLE:Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma}} | ||
| + | |||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
| Line 8: | Line 9: | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
| − | + | Ahmed Eladely, MBBCh. Andrew Siref, MD. | |
| + | |||
| + | Creighton University, Omaha, NE. | ||
__TOC__ | __TOC__ | ||
==Cancer Category / Type== | ==Cancer Category / Type== | ||
| − | + | {| class="wikitable" | |
| − | + | !Book | |
| + | |WHO Classification of Disease - [[HAEM5:Table of Contents|Haematolymphoid Tumours (5th ed.)]] | ||
| + | |- | ||
| + | !Category | ||
| + | |T-cell and NK-cell lymphoid proliferations and lymphomas | ||
| + | |- | ||
| + | !Family | ||
| + | |Mature T-cell and NK-cell neoplasms | ||
| + | |- | ||
| + | !Type | ||
| + | |Primary cutaneous T-cell lymphoid proliferations and lymphomas | ||
| + | |- | ||
| + | !Subtype | ||
| + | |Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma | ||
| + | |} | ||
==Cancer Sub-Classification / Subtype== | ==Cancer Sub-Classification / Subtype== | ||
| − | + | None | |
==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
| − | + | Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma (PCAETL) is a rare and poorly characterized neoplastic proliferation of T lymphocytes with CD8 expression and cytotoxic molecules. PACETL is marked by epidermal necrosis, a high proliferation index, and aggressive clinical behavior. It should be distinguished from other rare epidermotropic subtypes of cutaneous gamma-delta T-cell lymphomas (such as gamma-delta mycosis fungoides), CD8+ mycosis fungoides, localized pagetoid reticulosis, type D lymphomatoid papulosis and Woringer-Kolopp disease.<ref name=":0">{{Cite journal|last=Berti|first=E.|last2=Tomasini|first2=D.|last3=Vermeer|first3=M. H.|last4=Meijer|first4=C. J.|last5=Alessi|first5=E.|last6=Willemze|first6=R.|date=1999-08|title=Primary cutaneous CD8-positive epidermotropic cytotoxic T cell lymphomas. A distinct clinicopathological entity with an aggressive clinical behavior|url=https://pubmed.ncbi.nlm.nih.gov/10433941/|journal=The American Journal of Pathology|volume=155|issue=2|pages=483–492|doi=10.1016/S0002-9440(10)65144-9|issn=0002-9440|pmc=1866866|pmid=10433941}}</ref><ref name=":1">{{Cite journal|last=Guitart|first=Joan|last2=Martinez-Escala|first2=M. Estela|last3=Subtil|first3=Antonio|last4=Duvic|first4=Madeleine|last5=Pulitzer|first5=Melissa P.|last6=Olsen|first6=Elise A.|last7=Kim|first7=Ellen|last8=Rook|first8=Alain H.|last9=Samimi|first9=Sara S.|date=2017-05|title=Primary cutaneous aggressive epidermotropic cytotoxic T-cell lymphomas: reappraisal of a provisional entity in the 2016 WHO classification of cutaneous lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/28128277/|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=30|issue=5|pages=761–772|doi=10.1038/modpathol.2016.240|issn=1530-0285|pmc=5413429|pmid=28128277}}</ref><ref name=":2">{{Cite journal|last=Robson|first=Alistair|last2=Assaf|first2=Chalid|last3=Bagot|first3=Martine|last4=Burg|first4=Gunter|last5=Calonje|first5=Eduardo|last6=Castillo|first6=Christine|last7=Cerroni|first7=Lorenzo|last8=Chimenti|first8=Nicola|last9=Dechelotte|first9=Pierre|date=2015-10|title=Aggressive epidermotropic cutaneous CD8+ lymphoma: a cutaneous lymphoma with distinct clinical and pathological features. Report of an EORTC Cutaneous Lymphoma Task Force Workshop|url=https://pubmed.ncbi.nlm.nih.gov/24438036/|journal=Histopathology|volume=67|issue=4|pages=425–441|doi=10.1111/his.12371|issn=1365-2559|pmid=24438036}}</ref> | |
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
| − | + | Ketron–Goodman, disseminated pagetoid reticulosis, Berti lymphoma (Historical) | |
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
| − | + | PCAETL is rare, comprising less than 1% of all cutaneous T-cell lymphomas. It typically occurs in adults and shows a predilection for males.<ref name=":0" /><ref name=":2" /> | |
==Clinical Features== | ==Clinical Features== | ||
| − | |||
| − | |||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
| − | | | + | |Localized papules (less common) |
| + | Diffusely distributed papules (common) | ||
| + | |||
| + | Ulcerated nodules, tumors, and plaques | ||
| + | |||
| + | Erosion or central necrosis | ||
| + | |||
| + | Preceded by chronic, poorly defined patches (subset) | ||
| − | + | Disseminate to visceral sites (lungs, testes, CNS) | |
| − | + | Lymph nodes spared | |
| − | + | No association with immunosuppression<ref name=":0" /><ref name=":1" /><ref name=":2" /> | |
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| − | | | + | |None |
| − | |||
| − | |||
|} | |} | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| − | + | PACETL can present with either localized or generalized skin lesions and may affect oral mucosa.<ref>{{Cite journal|last=Travassos|first=Daphine Caxias|last2=Silveira|first2=Heitor Albergoni|last3=Silva|first3=Evânio Vilela|last4=Panucci|first4=Beatriz Zamboni Martins|last5=da Silva Filho|first5=Nilson Coelho|last6=Silva|first6=Paula Verona Ragusa|last7=Bufalino|first7=Andreia|last8=León|first8=Jorge Esquiche|date=2022-06|title=Primary cutaneous CD8+ cytotoxic T-cell lymphoma of the face with intraoral involvement, resulting in facial nerve palsy after chemotherapy|url=https://pubmed.ncbi.nlm.nih.gov/35001425/|journal=Journal of Cutaneous Pathology|volume=49|issue=6|pages=560–564|doi=10.1111/cup.14199|issn=1600-0560|pmid=35001425}}</ref> | |
==Morphologic Features== | ==Morphologic Features== | ||
| Line 248: | Line 268: | ||
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | ||
<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-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_CD8-positive_aggressive_epidermotropic_cytotoxic_T-cell_lymphoma</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-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_CD8-positive_aggressive_epidermotropic_cytotoxic_T-cell_lymphoma</nowiki>. | ||
| − | [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]] | + | [[Category:HAEM5]] |
| + | [[Category:DISEASE]] | ||
| + | [[Category:Diseases P]] | ||
Revision as of 07:20, 11 July 2024
Haematolymphoid Tumours (5th ed.)
 | This page is under construction |
(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)
Primary Author(s)*
Ahmed Eladely, MBBCh. Andrew Siref, MD.
Creighton University, Omaha, NE.
Cancer Category / Type
| Book | WHO Classification of Disease - Haematolymphoid Tumours (5th ed.) |
|---|---|
| Category | T-cell and NK-cell lymphoid proliferations and lymphomas |
| Family | Mature T-cell and NK-cell neoplasms |
| Type | Primary cutaneous T-cell lymphoid proliferations and lymphomas |
| Subtype | Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma |
Cancer Sub-Classification / Subtype
None
Definition / Description of Disease
Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma (PCAETL) is a rare and poorly characterized neoplastic proliferation of T lymphocytes with CD8 expression and cytotoxic molecules. PACETL is marked by epidermal necrosis, a high proliferation index, and aggressive clinical behavior. It should be distinguished from other rare epidermotropic subtypes of cutaneous gamma-delta T-cell lymphomas (such as gamma-delta mycosis fungoides), CD8+ mycosis fungoides, localized pagetoid reticulosis, type D lymphomatoid papulosis and Woringer-Kolopp disease.[1][2][3]
Synonyms / Terminology
Ketron–Goodman, disseminated pagetoid reticulosis, Berti lymphoma (Historical)
Epidemiology / Prevalence
PCAETL is rare, comprising less than 1% of all cutaneous T-cell lymphomas. It typically occurs in adults and shows a predilection for males.[1][3]
Clinical Features
| Signs and Symptoms | Localized papules (less common)
Diffusely distributed papules (common) Ulcerated nodules, tumors, and plaques Erosion or central necrosis Preceded by chronic, poorly defined patches (subset) Disseminate to visceral sites (lungs, testes, CNS) Lymph nodes spared |
| Laboratory Findings | None |
Sites of Involvement
PACETL can present with either localized or generalized skin lesions and may affect oral mucosa.[4]
Morphologic Features
Put your text here
Immunophenotype
Put your text here and fill in the table (Instruction: Can include references in the table)
| Finding | Marker |
|---|---|
| Positive (universal) | EXAMPLE CD1 |
| Positive (subset) | EXAMPLE CD2 |
| Negative (universal) | EXAMPLE CD3 |
| Negative (subset) | EXAMPLE CD4 |
Chromosomal Rearrangements (Gene Fusions)
Put your text here and fill in the table
| 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 |
|---|---|---|---|---|---|---|---|
| EXAMPLE t(9;22)(q34;q11.2) | EXAMPLE 3'ABL1 / 5'BCR | EXAMPLE der(22) | EXAMPLE 20% (COSMIC)
EXAMPLE 30% (add reference) |
Yes | No | Yes | EXAMPLE
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
Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)
| Chr # | Gain / Loss / Amp / LOH | Minimal Region Genomic Coordinates [Genome Build] | Minimal Region Cytoband | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|
| EXAMPLE
7 |
EXAMPLE Loss | EXAMPLE
chr7:1- 159,335,973 [hg38] |
EXAMPLE
chr7 |
Yes | Yes | No | EXAMPLE
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). |
| EXAMPLE
8 |
EXAMPLE Gain | EXAMPLE
chr8:1-145,138,636 [hg38] |
EXAMPLE
chr8 |
No | No | No | EXAMPLE
Common recurrent secondary finding for t(8;21) (add reference). |
Characteristic Chromosomal Patterns
Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)
| Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|
| EXAMPLE
Co-deletion of 1p and 18q |
Yes | No | No | EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). |
Gene Mutations (SNV / INDEL)
Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)
| 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) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|---|
| EXAMPLE: TP53; Variable LOF mutations
EXAMPLE: EGFR; Exon 20 mutations EXAMPLE: BRAF; Activating mutations |
EXAMPLE: TSG | EXAMPLE: 20% (COSMIC)
EXAMPLE: 30% (add Reference) |
EXAMPLE: IDH1 R123H | EXAMPLE: EGFR amplification | EXAMPLE: 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.
Epigenomic Alterations
Put your text here
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table.)
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| EXAMPLE: BRAF and MAP2K1; Activating mutations | EXAMPLE: MAPK signaling | EXAMPLE: Increased cell growth and proliferation |
| EXAMPLE: CDKN2A; Inactivating mutations | EXAMPLE: Cell cycle regulation | EXAMPLE: Unregulated cell division |
| EXAMPLE: KMT2C and ARID1A; Inactivating mutations | EXAMPLE: Histone modification, chromatin remodeling | EXAMPLE: Abnormal gene expression program |
Genetic Diagnostic Testing Methods
Put your text here
Familial Forms
Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)
Additional Information
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Links
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page (Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, 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 including the "http://www." portion.)
References
(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. 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.)
- ↑ 1.0 1.1 1.2 Berti, E.; et al. (1999-08). "Primary cutaneous CD8-positive epidermotropic cytotoxic T cell lymphomas. A distinct clinicopathological entity with an aggressive clinical behavior". The American Journal of Pathology. 155 (2): 483–492. doi:10.1016/S0002-9440(10)65144-9. ISSN 0002-9440. PMC 1866866. PMID 10433941. Check date values in:
|date=(help) - ↑ 2.0 2.1 Guitart, Joan; et al. (2017-05). "Primary cutaneous aggressive epidermotropic cytotoxic T-cell lymphomas: reappraisal of a provisional entity in the 2016 WHO classification of cutaneous lymphomas". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 30 (5): 761–772. doi:10.1038/modpathol.2016.240. ISSN 1530-0285. PMC 5413429. PMID 28128277. Check date values in:
|date=(help) - ↑ 3.0 3.1 3.2 Robson, Alistair; et al. (2015-10). "Aggressive epidermotropic cutaneous CD8+ lymphoma: a cutaneous lymphoma with distinct clinical and pathological features. Report of an EORTC Cutaneous Lymphoma Task Force Workshop". Histopathology. 67 (4): 425–441. doi:10.1111/his.12371. ISSN 1365-2559. PMID 24438036. Check date values in:
|date=(help) - ↑ Travassos, Daphine Caxias; et al. (2022-06). "Primary cutaneous CD8+ cytotoxic T-cell lymphoma of the face with intraoral involvement, resulting in facial nerve palsy after chemotherapy". Journal of Cutaneous Pathology. 49 (6): 560–564. doi:10.1111/cup.14199. ISSN 1600-0560. PMID 35001425 Check
|pmid=value (help). Check date values in:|date=(help)
EXAMPLE Book
- Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, 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, p129-171.
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. *Citation of this Page: “Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 07/11/2024, https://ccga.io/index.php/HAEM5:Primary_cutaneous_CD8-positive_aggressive_epidermotropic_cytotoxic_T-cell_lymphoma.