Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder

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Haematolymphoid Tumours (5th ed.)

(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). 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)*

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Cancer Category / Type

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Cancer Sub-Classification / Subtype

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Definition / Description of Disease

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Synonyms / Terminology

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Epidemiology / Prevalence

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Clinical Features

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Signs and Symptoms Cutaneous, slowly progressive papule or nodule

Solitary or multiple (rare) [1] [2] [3]

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)

Sites of Involvement

Ears (the commonest), nose, and feet.

Rare sites: Leg, trunk, genital, and eyelid.[1][3] [4]

Morphologic Features

Dense, monotonous dermal proliferation of atypical medium-sized lymphocytes.

Lymphocytes have irregular and frequently folded nuclei with fine chromatin and moderate nuclear pleomorphism. [5]

A perivascular pattern maybe seen (less common).

Spared epidermis.

Focal minimal epidermotropism and focal folliculotropism may be seen.

Grenz zone separates epidermis from the dermal infiltrate in one third of cases.

The proliferation extends into the subcutis.

Absent or low mitotic activity.

Absent or few Plasma cells, histiocytes, neutrophils, and eosinophils.[1][6]

Immunophenotype

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Finding Marker
Positive CD3
Positive CD8
Positive βF1+
Positive TIA1
Positive CD99
Positive (Golgi dot-like) CD68
Ki-67/MIB1 <10%
Negative (/Weak) CD2
Negative (/Weak) CD5
Negative (/Weak) CD7
Negative CD4
Negative CD56
Negative CD30
Negative Perforin
Negative Granzyme B
Negative PD1
Negative TdT
Negative EBV

One reported case with CD8+, CD4+ phenotype. [7]

Few reported cases had high proliferation index.[8]

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
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).

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
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No EXAMPLE

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

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
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

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
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


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

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Genes and Main Pathways Involved

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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

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Familial Forms

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Additional Information

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Links

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References

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  1. 1.0 1.1 1.2 Greenblatt, Danielle; et al. (2013-02). "Indolent CD8(+) lymphoid proliferation of acral sites: a clinicopathologic study of six patients with some atypical features". Journal of Cutaneous Pathology. 40 (2): 248–258. doi:10.1111/cup.12045. ISSN 1600-0560. PMID 23189944. Check date values in: |date= (help)
  2. Beltraminelli, Helmut; et al. (2010-01). "Indolent CD8+ lymphoid proliferation of the ear: a phenotypic variant of the small-medium pleomorphic cutaneous T-cell lymphoma?". Journal of Cutaneous Pathology. 37 (1): 81–84. doi:10.1111/j.1600-0560.2009.01278.x. ISSN 1600-0560. PMID 19602068. Check date values in: |date= (help)
  3. 3.0 3.1 Kempf, Werner; et al. (2013-04). "Primary cutaneous CD8(+) small- to medium-sized lymphoproliferative disorder in extrafacial sites: clinicopathologic features and concept on their classification". The American Journal of Dermatopathology. 35 (2): 159–166. doi:10.1097/DAD.0b013e31825c3a33. ISSN 1533-0311. PMID 22885550. Check date values in: |date= (help)
  4. Hagen, Joshua W.; et al. (2014-02). "Indolent CD8+ lymphoid proliferation of the face with eyelid involvement". The American Journal of Dermatopathology. 36 (2): 137–141. doi:10.1097/DAD.0b013e318297f7fd. ISSN 1533-0311. PMID 24556898. Check date values in: |date= (help)
  5. Petrella, Tony; et al. (2007-12). "Indolent CD8-positive lymphoid proliferation of the ear: a distinct primary cutaneous T-cell lymphoma?". The American Journal of Surgical Pathology. 31 (12): 1887–1892. doi:10.1097/PAS.0b013e318068b527. ISSN 0147-5185. PMID 18043044. Check date values in: |date= (help)
  6. Butsch, Florian; et al. (2012-03). "Bilateral indolent epidermotropic CD8-positive lymphoid proliferations of the ear". Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology: JDDG. 10 (3): 195–196. doi:10.1111/j.1610-0387.2011.07859.x. ISSN 1610-0387. PMID 22142195. Check date values in: |date= (help)
  7. Toberer, Ferdinand; et al. (2019-03). "Double-positive CD8/CD4 primary cutaneous acral T-cell lymphoma". Journal of Cutaneous Pathology. 46 (3): 231–233. doi:10.1111/cup.13403. ISSN 1600-0560. PMID 30552698. Check date values in: |date= (help)
  8. Swick, Brian L.; et al. (2011-02). "Indolent CD8+ lymphoid proliferation of the ear: report of two cases and review of the literature". Journal of Cutaneous Pathology. 38 (2): 209–215. doi:10.1111/j.1600-0560.2010.01647.x. ISSN 1600-0560. PMID 21083681. Check date values in: |date= (help)

EXAMPLE Book

  1. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.

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. *Citation of this Page: “Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 05/16/2024, https://ccga.io/index.php/HAEM5:Primary_cutaneous_acral_CD8-positive_T-cell_lymphoproliferative_disorder.