Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder

Haematolymphoid Tumours (WHO Classification, 5th ed.)

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Primary Author(s)*

Ahmed Eladely, MBBCh. Andrew Siref, MD.

Creighton University, Omaha, NE.

WHO Classification of Disease

Structure	Disease
Book	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(s)	Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder

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

Chromosomal rearrangements contributing to tumor formation have not yet been described.

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

Individual region genomic gain, loss, or LOH contributing to tumor formation have not yet been described

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

Characteristic chromosomal patterns contributing to tumor formation have not yet been described

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 mutations contributing to tumor formation have not yet been described

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,

Epigenomic Alterations

Epigenomic alterations contributing to tumor formation have not yet been described

Genes and Main Pathways Involved

Gene mutations contributing to tumor formation have not yet been described

Genetic Diagnostic Testing Methods

In nearly all cases, the neoplastic T cells exhibit clonal rearrangements of T-cell receptor (TCR) gamma and/or beta genes.

Familial Forms

None.

Additional Information

• The tumor generally has an excellent prognosis, with no reported fatal outcomes. Complete remission following surgical excision or local radiation therapy is common. Recurrence after treatment is possible, more frequently seen in younger patients, and can occasionally occur at other cutaneous sites. Dissemination to extracutaneous sites has been reported in only one case.

This disease is defined/characterized as detailed below:

• Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder is a rare type of lymphoproliferative disorder characterized by slow-growing papules and nodules primarily affecting acral sites, such as the ears, with a benign clinical course.

The epidemiology/prevalence of this disease is detailed below:

• Rare disease accounting for < 1% of all primary cutaneous lymphomas. The disease predominates in males, with an M:F ratio of 2:1. The median age is 56 years.

The clinical features of this disease are detailed below:

Signs and symptoms - Cutaneous, slowly progressive papule or nodule. Solitary or multiple (rare).

Laboratory findings - None

The sites of involvement of this disease are detailed below:

• Ears (most common), retroauricular area, nose, and feet.
• Rare sites: leg, trunk, genitals, and eyelid.

The morphologic features of this disease are detailed below:

• On H&E, the tumor shows a dense, monotonous dermal proliferation of atypical medium-sized lymphocytes. The lymphocytes have irregular and frequently folded nuclei with fine chromatin and moderate nuclear pleomorphism.A perivascular pattern may be seen, although it is less common.
• Usually, the epidermis is spared, but focal minimal epidermotropism and focal folliculotropism may be seen. A Grenz zone separates the epidermis from the dermal infiltrate in approximately one-third of cases. The proliferation may extend into the subcutis.
• Mitotic activity is absent or low. Plasma cells, histiocytes, neutrophils, and eosinophils are either absent or infrequent.

The immunophenotype of this disease is detailed below:

• Positive - CD3, TIA1, CD45RA, CD68 (Golgi pattern)
• CD4/CD8 - CD4(-), CD8(+)
• CD2/CD5/CD7 - Loss of ≥ 1: CD2, CD5, and/or CD7
• TCR - TCR-βF1(+), TCRγδ(-)
• Ki-67/MIB1 - <15%
• Negative - CD56, CD57, CD30, CD45RO, Perforin, Granzyme B, ICOS, PD-1, EBER (always negative)
• There is one reported case with a CD4+/CD8+ phenotype. Few reported cases have shown a high Ki67 proliferation index. The Golgi dot-like staining pattern of CD68 in tumor cells is unique to this entity.

Links

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References

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Notes

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Prior Author(s):

*Citation of this Page: “Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 02/19/2025, https://ccga.io/index.php/HAEM5:Primary_cutaneous_acral_CD8-positive_T-cell_lymphoproliferative_disorder.