Difference between revisions of "HAEM5:Primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder"
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
| − | PCR for T-cell | + | PCR for clonal T-cell receptor gene rearrangement (clonal rearrangement present in majority of cases). <ref name=":1" /> |
==Familial Forms== | ==Familial Forms== | ||
<span style="color:#0070C0">N/A </span> | <span style="color:#0070C0">N/A </span> | ||
Revision as of 14:13, 11 June 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); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. 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)*
Amanda Shuo Xu, MD
Queen's University/Kingston Health Science Centre
Kingston, Ontario, Canada
WHO Classification of Disease
(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)
| Structure | Disease |
|---|---|
| Book | |
| Category | |
| Family | |
| Type | |
| Subtype(s) |
Definition / Description of Disease
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.
Put your text here (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.)
Synonyms / Terminology
Primary cutaneous CD4+ small/medium T-cell lymphoma (not preferred due to indolent clinical course)[1]
Epidemiology / Prevalence
Previously considered an uncommon disease but may be underestimated.
Comprising up to 6% of cutaneous T-cell lymphomas (CTCLs). [2]
One study reported local prevalence of 12.5% of all CTCLs, making it the second most common cutaneous lymphoma following mycosis fungoides.[3]
Clinical Features
Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)
| Signs and Symptoms | Asymptomatic
Slow growing |
| Laboratory Findings | N/A |
Sites of Involvement
Skin, commonly involving head and neck region and upper body. [3]
Morphologic Features
- Dense dermal lymphoid infiltrate, often with nodular or diffuse pattern[4][5]
- Tends to extend to subcutaneous tissue[5][4]
- Lack significant epidermotropism and folliculotropism[5]
- Predominantly small/medium-size T-cells with mild-moderate cytological atypia[5][4][3][1]
- Low number of large lymphocytes allowed (<30%)[1][4][5]
- Can have mixed background containing CD8+ T-cells, B-cells, plasma cells, histiocytes, +/-multinucleated giant cells or granulomatous change[5][4]
- Absent/few eosinophils[5]
- Low proliferation rate; Ki67 <20%[3][1]
- By definitive, excludes cases that meet the diagnostic criteria for mycosis fungoides[1]
Immunophenotype
Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)
| Finding | Marker |
|---|---|
| Positive (universal) | CD3, CD4, PD-1, CXCL13, CD5, CD2[5][3][1] |
| Positive (subset) | BCL6[5][3][1] |
| Negative (universal) | CD8, CD30, CD10, cytotoxic proteins[5][3][1] |
| Negative (subset) | CD7[1] |
Chromosomal Rearrangements (Gene Fusions)
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| 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 |
|---|---|---|---|---|---|---|---|
| Not found | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
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. Do not delete table.)
| 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 |
|---|---|---|---|---|---|---|---|
| Not found | N/A | N/A | N/A | N/A | N/A | N/A |
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. Do not delete table.)
| Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A |
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. Do not delete table.)
| 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 |
|---|---|---|---|---|---|---|---|---|
| Not found | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
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
N/
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete 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
PCR for clonal T-cell receptor gene rearrangement (clonal rearrangement present in majority of cases). [3]
Familial Forms
N/A
Additional Information
N/A
Links
(use the "Link" icon that looks like two overlapping circles at the top of the page) (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 "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.)
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.
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 Swerdlow, S.H. et al. WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed), pp.401
- ↑ Willemze, Rein; et al. (2019-04-18). "The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas". Blood. 133 (16): 1703–1714. doi:10.1182/blood-2018-11-881268. ISSN 1528-0020. PMC 6473500. PMID 30635287.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 3.9 Surmanowicz, Philip; et al. (2020-12-16). "The Clinical Spectrum of Primary Cutaneous CD4+ Small/Medium-Sized Pleomorphic T-Cell Lymphoproliferative Disorder: An Updated Systematic Literature Review and Case Series". Dermatology. 237 (4): 618–628. doi:10.1159/000511473. ISSN 1018-8665.
- ↑ 4.0 4.1 4.2 4.3 4.4 Beltraminelli, Helmut; et al. (2009-06). "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". The American Journal of Dermatopathology. 31 (4): 317–322. doi:10.1097/DAD.0b013e31819f19bb. ISSN 1533-0311. PMID 19461234. Check date values in:
|date=(help) - ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 5.8 5.9 Cetinözman, Fatma; et al. (2012-01). "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". The American Journal of Surgical Pathology. 36 (1): 109–116. doi:10.1097/PAS.0b013e318230df87. ISSN 1532-0979. PMID 21989349. Check date values in:
|date=(help)