Difference between revisions of "HAEM5:Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder"
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
| − | + | Ahmed Eladely, MBBCh. Andrew Siref, MD. | |
| + | |||
| + | Creighton University, Omaha, NE. | ||
__TOC__ | __TOC__ | ||
==Cancer Category / Type== | ==Cancer Category / Type== | ||
| − | + | {| class="wikitable" | |
| − | + | |+ | |
| + | !Book | ||
| + | |WHO Classification of Disease - [[HAEM5:Table of Contents|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 | ||
| + | |Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder | ||
| + | |} | ||
==Cancer Sub-Classification / Subtype== | ==Cancer Sub-Classification / Subtype== | ||
| − | + | None | |
==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
| − | + | 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 benign clinical course. <ref name=":0" /> | |
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
| − | + | None | |
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
| − | + | uncommon disease accounting for < 1% of all primary cutaneous lymphomas. The disease predominates in male with M:F ratio of 2:1. The median age is 56 years. No pediatric cases are reported till now.<ref>{{Cite journal|last=Tjahjono|first=Leonardo A.|last2=Davis|first2=Mark D. P.|last3=Witzig|first3=Thomas E.|last4=Comfere|first4=Nneka I.|date=2019-09|title=Primary Cutaneous Acral CD8+ T-Cell Lymphoma-A Single Center Review of 3 Cases and Recent Literature Review|url=https://pubmed.ncbi.nlm.nih.gov/31433793/|journal=The American Journal of Dermatopathology|volume=41|issue=9|pages=644–648|doi=10.1097/DAD.0000000000001366|issn=1533-0311|pmid=31433793}}</ref> | |
==Clinical Features== | ==Clinical Features== | ||
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|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| − | | | + | |None |
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==Morphologic Features== | ==Morphologic Features== | ||
| − | + | On H&E, the tumor is dense, monotonous dermal proliferation of atypical medium-sized lymphocytes. Lymphocytes have irregular and frequently folded nuclei with fine chromatin and moderate nuclear pleomorphism. <ref>{{Cite journal|last=Petrella|first=Tony|last2=Maubec|first2=Eve|last3=Cornillet-Lefebvre|first3=Pascale|last4=Willemze|first4=Rein|last5=Pluot|first5=Michel|last6=Durlach|first6=Anne|last7=Marinho|first7=Eduardo|last8=Benhamou|first8=Jean-Luc|last9=Jansen|first9=Patty|date=2007-12|title=Indolent CD8-positive lymphoid proliferation of the ear: a distinct primary cutaneous T-cell lymphoma?|url=https://pubmed.ncbi.nlm.nih.gov/18043044/|journal=The American Journal of Surgical Pathology|volume=31|issue=12|pages=1887–1892|doi=10.1097/PAS.0b013e318068b527|issn=0147-5185|pmid=18043044}}</ref>A perivascular pattern maybe seen (less common). | |
| − | |||
| − | Lymphocytes have irregular and frequently folded nuclei with fine chromatin and moderate nuclear pleomorphism. <ref>{{Cite journal|last=Petrella|first=Tony|last2=Maubec|first2=Eve|last3=Cornillet-Lefebvre|first3=Pascale|last4=Willemze|first4=Rein|last5=Pluot|first5=Michel|last6=Durlach|first6=Anne|last7=Marinho|first7=Eduardo|last8=Benhamou|first8=Jean-Luc|last9=Jansen|first9=Patty|date=2007-12|title=Indolent CD8-positive lymphoid proliferation of the ear: a distinct primary cutaneous T-cell lymphoma?|url=https://pubmed.ncbi.nlm.nih.gov/18043044/|journal=The American Journal of Surgical Pathology|volume=31|issue=12|pages=1887–1892|doi=10.1097/PAS.0b013e318068b527|issn=0147-5185|pmid=18043044}}</ref> | ||
| − | + | Usually epidermis is pared, but focal minimal epidermotropism and focal folliculotropism may be seen. Grenz zone separates epidermis from the dermal infiltrate in one third of cases. The proliferation may extend into the subcutis. | |
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| − | Grenz zone separates epidermis from the dermal infiltrate in one third of cases. | ||
| − | |||
| − | The proliferation | ||
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| + | Absent or low mitotic activity. Absent or few Plasma cells, histiocytes, neutrophils, and eosinophils.<ref name=":0" /><ref>{{Cite journal|last=Butsch|first=Florian|last2=Kind|first2=Peter|last3=Bräuninger|first3=Wolfgang|date=2012-03|title=Bilateral indolent epidermotropic CD8-positive lymphoid proliferations of the ear|url=https://pubmed.ncbi.nlm.nih.gov/22142195/|journal=Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology: JDDG|volume=10|issue=3|pages=195–196|doi=10.1111/j.1610-0387.2011.07859.x|issn=1610-0387|pmid=22142195}}</ref> | ||
==Immunophenotype== | ==Immunophenotype== | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
| − | |Positive ||CD3 | + | |Positive||CD3, CD8, βF1+, TIA1, CD99 |
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|Positive (Golgi dot-like) | |Positive (Golgi dot-like) | ||
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|<10% | |<10% | ||
|- | |- | ||
| − | |Negative ( | + | |Negative ( or Weak) |
| − | |CD2 | + | |CD2, CD5, CD7 |
|- | |- | ||
| − | + | |Negative | |
| − | + | |CD4, CD56, CD30, Perforin, Granzyme B, PD1, TdT, EBV | |
| − | |||
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| − | |Negative | ||
| − | |CD4 | ||
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One reported case with CD8+, CD4+ phenotype. <ref>{{Cite journal|last=Toberer|first=Ferdinand|last2=Christopoulos|first2=Petros|last3=Lasitschka|first3=Felix|last4=Enk|first4=Alexander|last5=Haenssle|first5=Holger A.|last6=Cerroni|first6=Lorenzo|date=2019-03|title=Double-positive CD8/CD4 primary cutaneous acral T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/30552698/|journal=Journal of Cutaneous Pathology|volume=46|issue=3|pages=231–233|doi=10.1111/cup.13403|issn=1600-0560|pmid=30552698}}</ref> | One reported case with CD8+, CD4+ phenotype. <ref>{{Cite journal|last=Toberer|first=Ferdinand|last2=Christopoulos|first2=Petros|last3=Lasitschka|first3=Felix|last4=Enk|first4=Alexander|last5=Haenssle|first5=Holger A.|last6=Cerroni|first6=Lorenzo|date=2019-03|title=Double-positive CD8/CD4 primary cutaneous acral T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/30552698/|journal=Journal of Cutaneous Pathology|volume=46|issue=3|pages=231–233|doi=10.1111/cup.13403|issn=1600-0560|pmid=30552698}}</ref> | ||
Few reported cases had high proliferation index.<ref>{{Cite journal|last=Swick|first=Brian L.|last2=Baum|first2=Christian L.|last3=Venkat|first3=Arun P.|last4=Liu|first4=Vincent|date=2011-02|title=Indolent CD8+ lymphoid proliferation of the ear: report of two cases and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/21083681/|journal=Journal of Cutaneous Pathology|volume=38|issue=2|pages=209–215|doi=10.1111/j.1600-0560.2010.01647.x|issn=1600-0560|pmid=21083681}}</ref> | Few reported cases had high proliferation index.<ref>{{Cite journal|last=Swick|first=Brian L.|last2=Baum|first2=Christian L.|last3=Venkat|first3=Arun P.|last4=Liu|first4=Vincent|date=2011-02|title=Indolent CD8+ lymphoid proliferation of the ear: report of two cases and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/21083681/|journal=Journal of Cutaneous Pathology|volume=38|issue=2|pages=209–215|doi=10.1111/j.1600-0560.2010.01647.x|issn=1600-0560|pmid=21083681}}</ref> | ||
| + | |||
| + | The Golgi dot-like staining pattern of CD68 in tumor cells is unique to this entity.<ref>{{Cite journal|last=Wobser|first=M.|last2=Roth|first2=S.|last3=Reinartz|first3=T.|last4=Rosenwald|first4=A.|last5=Goebeler|first5=M.|last6=Geissinger|first6=E.|date=2015-06|title=CD68 expression is a discriminative feature of indolent cutaneous CD8-positive lymphoid proliferation and distinguishes this lymphoma subtype from other CD8-positive cutaneous lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/25524664/|journal=The British Journal of Dermatology|volume=172|issue=6|pages=1573–1580|doi=10.1111/bjd.13628|issn=1365-2133|pmid=25524664}}</ref> | ||
==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
| − | + | None. | |
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
Revision as of 16:31, 5 July 2024
Haematolymphoid Tumours (5th ed.)
 | This page is under construction |
(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)*
Ahmed Eladely, MBBCh. Andrew Siref, MD.
Creighton University, Omaha, NE.
Cancer Category / Type
| Book | WHO Classification of Disease - 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 | Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder |
Cancer Sub-Classification / Subtype
None
Definition / Description of Disease
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 benign clinical course. [1]
Synonyms / Terminology
None
Epidemiology / Prevalence
uncommon disease accounting for < 1% of all primary cutaneous lymphomas. The disease predominates in male with M:F ratio of 2:1. The median age is 56 years. No pediatric cases are reported till now.[2]
Clinical Features
Put your text here and fill in the table (Instruction: Can include references in the table)
| Signs and Symptoms | Cutaneous, slowly progressive papule or nodule |
| Laboratory Findings | None |
Sites of Involvement
Ears (the commonest), nose, and feet.
Rare sites: Leg, trunk, genital, and eyelid.[1][4] [5]
Morphologic Features
On H&E, the tumor is dense, monotonous dermal proliferation of atypical medium-sized lymphocytes. Lymphocytes have irregular and frequently folded nuclei with fine chromatin and moderate nuclear pleomorphism. [6]A perivascular pattern maybe seen (less common).
Usually epidermis is pared, but focal minimal epidermotropism and focal folliculotropism may be seen. Grenz zone separates epidermis from the dermal infiltrate in one third of cases. The proliferation may extend into the subcutis.
Absent or low mitotic activity. Absent or few Plasma cells, histiocytes, neutrophils, and eosinophils.[1][7]
Immunophenotype
Put your text here and fill in the table (Instruction: Can include references in the table)
| Finding | Marker |
|---|---|
| Positive | CD3, CD8, βF1+, TIA1, CD99 |
| Positive (Golgi dot-like) | CD68 |
| Ki-67/MIB1 | <10% |
| Negative ( or Weak) | CD2, CD5, CD7 |
| Negative | CD4, CD56, CD30, Perforin, Granzyme B, PD1, TdT, EBV |
One reported case with CD8+, CD4+ phenotype. [8]
Few reported cases had high proliferation index.[9]
The Golgi dot-like staining pattern of CD68 in tumor cells is unique to this entity.[10]
Chromosomal Rearrangements (Gene Fusions)
None.
Individual Region Genomic Gain / Loss / LOH
Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)
| 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
Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)
| 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)
Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)
| 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
Put your text here
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table.)
| 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
Put your text here
Familial Forms
Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)
Additional Information
Put your text here
Links
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page (Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "http://www." portion.)
References
(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference.)
- ↑ 1.0 1.1 1.2 1.3 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) - ↑ Tjahjono, Leonardo A.; et al. (2019-09). "Primary Cutaneous Acral CD8+ T-Cell Lymphoma-A Single Center Review of 3 Cases and Recent Literature Review". The American Journal of Dermatopathology. 41 (9): 644–648. doi:10.1097/DAD.0000000000001366. ISSN 1533-0311. PMID 31433793. Check date values in:
|date=(help) - ↑ 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) - ↑ 4.0 4.1 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) - ↑ 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) - ↑ 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) - ↑ 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) - ↑ 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) - ↑ 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) - ↑ Wobser, M.; et al. (2015-06). "CD68 expression is a discriminative feature of indolent cutaneous CD8-positive lymphoid proliferation and distinguishes this lymphoma subtype from other CD8-positive cutaneous lymphomas". The British Journal of Dermatology. 172 (6): 1573–1580. doi:10.1111/bjd.13628. ISSN 1365-2133. PMID 25524664. Check date values in:
|date=(help)
EXAMPLE Book
- 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 07/5/2024, https://ccga.io/index.php/HAEM5:Primary_cutaneous_acral_CD8-positive_T-cell_lymphoproliferative_disorder.