Primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder
Haematolymphoid Tumours (WHO Classification, 5th ed.)
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Primary Author(s)*[edit | edit source]
Shuo Amanda Xu, MD
Queen's University/Kingston Health Science Centre
Kingston, Ontario, Canada
WHO Classification of Disease[edit | edit source]
(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) |
Related Terminology[edit | edit source]
| Acceptable | N/A |
| Not Recommended | Primary cutaneous CD4+ small/medium pleomorphic T-cell lymphoma; pseudolymphomatous folliculitis |
Gene Rearrangements[edit | edit source]
| Driver Gene | Fusion(s) and Common Partner Genes | Molecular Pathogenesis | Typical Chromosomal Alteration(s) | Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|---|
Individual Region Genomic Gain/Loss/LOH[edit | edit source]
| Chr # | Gain, Loss, Amp, LOH | Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] | Relevant Gene(s) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
Characteristic Chromosomal or Other Global Mutational Patterns[edit | edit source]
| Chromosomal Pattern | Molecular Pathogenesis | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|
Gene Mutations (SNV/INDEL)[edit | edit source]
| Gene | Genetic Alteration | Tumor Suppressor Gene, Oncogene, Other | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Epigenomic Alterations[edit | edit source]
A single retrospective study has demonstrated significantly decreased 5-hmC nuclear staining in primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder (PC-SMTLD) via immunohistochemistry compared to pseudolymphoma. The authors hypothesized that the change in 5-hmC expression level may be secondary to altered TET2 function affecting DNA methylation. [1] Another study identified one case of PC-SMTLD with a DNMT3A mutation which was not previously described, suggesting the epigenetic abnormality may be involved in the pathogenesis of some PC-SMTLD cases. [2]
Genes and Main Pathways Involved[edit | edit source]
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 |
|---|---|---|
| Not found | N/A | N/A |
Genetic Diagnostic Testing Methods[edit | edit source]
PCR for clonal T-cell receptor gene rearrangement (clonal rearrangement present in majority of cases). [3][4]
Concurrent clonal B-cell proliferation may occur in a small number of PC-SMTLD cases. [5]
Familial Forms[edit | edit source]
N/A
Additional Information[edit | edit source]
This disease is defined/characterized as detailed below:
An indolent primary cutaneous peripheral CD4+ T-cell lymphoproliferative disorder for which conservative treatment such as excision and local radiation therapy is known to be effective.
They express at least one follicular T-helper (TFH) marker, except for CD10.
The differential diagnosis includes[3][6]
- other cutaneous T-cell lymphomas (CTCLs)
- marginal zone lymphoma
- reactive benign cutaneous lymphoid proliferation
The epidemiology/prevalence of this disease is detailed below:
- Previously considered an uncommon disease but may be underestimated
- Comprising up to 6% of CTCLs [7]
- One study reported local prevalence of 12.5% of all CTCLs, making it the second most common cutaneous lymphoma following mycosis fungoides[3]
The clinical features of this disease are detailed below:
Signs and symptoms - Asymptomatic; Slow growing; Solitary skin nodule/papule/plaque, reddish/purple[6][3][8]; Multiple lesions in a small number of patients[3][8]
Laboratory findings - N/A
The sites of involvement of this disease are detailed below:
Skin, commonly involving head and neck region and upper body. [3]
The morphologic features of this disease are detailed below:
- Dense dermal lymphoid infiltrate, often with nodular or diffuse pattern[9][4]
- Tends to extend to superficial subcutaneous tissue[4][9]
- Lack significant epidermotropism and folliculotropism[4]
- Predominantly small/medium-size T-cells with mild-moderate cytological atypia[4][9][3][8]
- Low number of large lymphocytes allowed (<30%)[8][9][4]
- Can have mixed background containing CD8+ T-cells, B-cells, plasma cells, histiocytes, +/-multinucleated giant cells or granulomatous change[4][9]
- Absent/few eosinophils[4]
- Low proliferation rate; Ki67 <20%[3][8]
- By definitive, excludes cases that meet the diagnostic criteria for mycosis fungoides[8]
The immunophenotype of this disease is detailed below:
Positive (universal) - CD3, CD4, PD-1, CXCL13, CD5, CD2[4][3][8]
Positive (subset) - BCL6[4][3][8]
Negative (universal) - CD8, CD30, CD10, cytotoxic proteins[4][3][8]
Negative (subset) – CD7[8]
Links[edit | edit source]
N/A
References[edit | edit source]
- ↑ Hu, Jiahui; et al. (2024-01-01). "Decrease of 5-hydroxymethylcytosine in primary cutaneous CD4+ small/medium sized pleomorphic T-cell lymphoproliferative disorder". Anais Brasileiros de Dermatologia. 99 (1): 27–33. doi:10.1016/j.abd.2023.01.003. ISSN 0365-0596.
- ↑ Beltzung, Fanny; et al. (2020-07). "Primary Cutaneous CD4+ Small/Medium T-Cell Lymphoproliferative Disorders: A Clinical, Pathologic, and Molecular Study of 60 Cases Presenting With a Single Lesion: A Multicenter Study of the French Cutaneous Lymphoma Study Group". The American Journal of Surgical Pathology. 44 (7): 862. doi:10.1097/PAS.0000000000001470. ISSN 0147-5185. Check date values in:
|date=(help) - ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 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.
- ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 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) - ↑ Ates Ozdemir, Deniz; et al. (2022-11). "Clonal B-cell proliferations developing in the background of primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder: A case series". Journal of Cutaneous Pathology. 49 (11): 971–977. doi:10.1111/cup.14296. ISSN 1600-0560. PMID 35871674 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ 6.0 6.1 Jaffe, E. et al. (2017). Hematopathology (2nd ed.). Elsevier.
- ↑ 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.
- ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 Swerdlow, S.H. et al. (2017). WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed). IARC
- ↑ 9.0 9.1 9.2 9.3 9.4 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)
Notes[edit | edit source]
*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.