Primary cutaneous CD4-positive small or medium T-cell lymphoproliferative disorder

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Haematolymphoid Tumours (WHO Classification, 5th ed.)

Primary Author(s)*

Shuo Amanda 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)

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements

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

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

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)

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

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

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

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

N/A


Additional Information

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

N/A


References


  1. ↑ 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.
  2. ↑ 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. ↑ Jump up to: 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. ↑ Jump up to: 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)
  5. ↑ 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. ↑ Jump up to: 6.0 6.1 Jaffe, E. et al. (2017). Hematopathology (2nd ed.). Elsevier.
  7. ↑ 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. ↑ Jump up to: 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 8.9 Swerdlow, S.H.  et al. (2017). WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed). IARC
  9. ↑ Jump up to: 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

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