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

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Haematolymphoid Tumours (WHO Classification, 5th ed.)

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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 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[1][2]

  • other cutaneous T-cell lymphomas (CTCLs)
  • marginal zone lymphoma
  • reactive benign cutaneous lymphoid proliferation


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Synonyms / Terminology

Primary cutaneous CD4+ small/medium T-cell lymphoma (not preferred due to indolent clinical course)[3]

Epidemiology / Prevalence

Previously considered an uncommon disease but may be underestimated.

Comprising up to 6% of CTCLs. [4]

One study reported local prevalence of 12.5% of all CTCLs, making it the second most common cutaneous lymphoma following mycosis fungoides.[1]

Clinical Features

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Signs and Symptoms Asymptomatic

Slow growing

Solitary skin nodule/papule/plaque, reddish/purple[2][1][3]

Multiple lesions in a small number of patients[1][3]

Laboratory Findings N/A

Sites of Involvement

Skin, commonly involving head and neck region and upper body. [1]

Morphologic Features

  • Dense dermal lymphoid infiltrate, often with nodular or diffuse pattern[5][6]
  • Tends to extend to superficial subcutaneous tissue[6][5]
  • Lack significant epidermotropism and folliculotropism[6]
  • Predominantly small/medium-size T-cells with mild-moderate cytological atypia[6][5][1][3]
  • Low number of large lymphocytes allowed (<30%)[3][5][6]
  • Can have mixed background containing CD8+ T-cells, B-cells, plasma cells, histiocytes, +/-multinucleated giant cells or granulomatous change[6][5]
  • Absent/few eosinophils[6]
  • Low proliferation rate; Ki67 <20%[1][3]
  • By definitive, excludes cases that meet the diagnostic criteria for mycosis fungoides[3]

Immunophenotype

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Finding Marker
Positive (universal) CD3, CD4, PD-1, CXCL13, CD5, CD2[6][1][3]
Positive (subset) BCL6[6][1][3]
Negative (universal) CD8, CD30, CD10, cytotoxic proteins[6][1][3]
Negative (subset) CD7[3]

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

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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

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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)

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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/A

Genes and Main Pathways Involved

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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). [1][6]

Familial Forms

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Additional Information

N/A

Links

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References

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Notes

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  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 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.
  2. ↑ 2.0 2.1 Jaffe, E. et al. (2017). Hematopathology (2nd ed.). Elsevier.
  3. ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 Swerdlow, S.H.  et al. (2017). WHO classification of tumours of haematopoietic and lymphoid tissues (4th Ed). IARC
  4. ↑ 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.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 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)
  6. ↑ 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 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)
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