Difference between revisions of "HAEM5:Primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder"
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==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
| − | + | Indolent CD8-positive lymphoid proliferation of ear | |
| + | |||
| + | Primary cutaneous acral CD8-positive T-cell lymphoma (older terminology; designation as lymphoma no longer preferred in the 5th edition WHO Classification) | ||
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
| − | + | Rare 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== | ||
| Line 63: | Line 65: | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| − | Ears ( | + | Ears (most common), retroauricular, nose, and feet. |
| − | Rare sites: Leg, trunk, | + | Rare sites: Leg, trunk, genitals, and eyelid.<ref name=":0" /><ref name=":1" /> <ref>{{Cite journal|last=Hagen|first=Joshua W.|last2=Magro|first2=Cynthia M.|date=2014-02|title=Indolent CD8+ lymphoid proliferation of the face with eyelid involvement|url=https://pubmed.ncbi.nlm.nih.gov/24556898/|journal=The American Journal of Dermatopathology|volume=36|issue=2|pages=137–141|doi=10.1097/DAD.0b013e318297f7fd|issn=1533-0311|pmid=24556898}}</ref> |
==Morphologic Features== | ==Morphologic Features== | ||
| − | On H&E, the tumor | + | On H&E, the tumor shows a 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 may be seen, although this is less common. |
| − | Usually epidermis is spared, 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. | + | Usually, the epidermis is spared, but focal minimal epidermotropism and focal folliculotropism may be seen. A Grenz zone separates 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 absent or infrequent.<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== | ||
| Line 82: | Line 84: | ||
|Positive||CD3, CD8, βF1+, TIA1, CD99 | |Positive||CD3, CD8, βF1+, TIA1, CD99 | ||
|- | |- | ||
| − | |Positive (Golgi | + | |Positive (Golgi pattern) |
|CD68 | |CD68 | ||
|- | |- | ||
| Line 88: | Line 90: | ||
|<10% | |<10% | ||
|- | |- | ||
| − | | | + | |Variable |
| − | |CD2, CD5, CD7 | + | |CD2, CD5, CD7 (loss of ≥ 1 of these T-cell antigens) |
|- | |- | ||
|Negative | |Negative | ||
| − | |CD4, CD56, CD30, Perforin, Granzyme B, PD1, TdT, | + | |CD4, CD56, CD57, CD30, Perforin, Granzyme B, PD1, TdT, EBER (always negative) |
|} | |} | ||
| − | + | There is one reported case with a CD4+/CD8+ 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 | + | Few reported cases have shown a high Ki67 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> | 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> | ||
| Line 105: | Line 107: | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
| − | Individual region genomic gain, loss or LOH contributing to tumor formation have not yet been described | + | Individual region genomic gain, loss, or LOH contributing to tumor formation have not yet been described |
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 122: | Line 124: | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
| − | In nearly all cases, the neoplastic T cells exhibit clonal rearrangements of | + | In nearly all cases, the neoplastic T cells exhibit clonal rearrangements of T-cell receptor (TCR) gamma and/or beta genes.<ref name=":2">{{Cite journal|last=Kempf|first=Werner|last2=Petrella|first2=Tony|last3=Willemze|first3=Rein|last4=Jansen|first4=Patty|last5=Berti|first5=Emilio|last6=Santucci|first6=Marco|last7=Geissinger|first7=Eva|last8=Cerroni|first8=Lorenzo|last9=Maubec|first9=Eve|date=2022-05|title=Clinical, histopathological and prognostic features of primary cutaneous acral CD8+ T-cell lymphoma and other dermal CD8+ cutaneous lymphoproliferations: results of an EORTC Cutaneous Lymphoma Group workshop|url=https://pubmed.ncbi.nlm.nih.gov/34988968/|journal=The British Journal of Dermatology|volume=186|issue=5|pages=887–897|doi=10.1111/bjd.20973|issn=1365-2133|pmid=34988968}}</ref> |
==Familial Forms== | ==Familial Forms== | ||
| Line 130: | Line 132: | ||
==Additional Information== | ==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 in younger patients, and can occasionally occur at other cutaneous sites. Dissemination to extracutaneous sites has been reported in only one case.<ref name=":2" /><ref>{{Cite journal|last=Alberti-Violetti|first=Silvia|last2=Fanoni|first2=Daniele|last3=Provasi|first3=Matteo|last4=Corti|first4=Laura|last5=Venegoni|first5=Luigia|last6=Berti|first6=Emilio|date=2017-11|title=Primary cutaneous acral CD8 positive T-cell lymphoma with extra-cutaneous involvement: A long-standing case with an unexpected progression|url=https://pubmed.ncbi.nlm.nih.gov/28796362/|journal=Journal of Cutaneous Pathology|volume=44|issue=11|pages=964–968|doi=10.1111/cup.13020|issn=1600-0560|pmid=28796362}}</ref> | + | 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.<ref name=":2" /><ref>{{Cite journal|last=Alberti-Violetti|first=Silvia|last2=Fanoni|first2=Daniele|last3=Provasi|first3=Matteo|last4=Corti|first4=Laura|last5=Venegoni|first5=Luigia|last6=Berti|first6=Emilio|date=2017-11|title=Primary cutaneous acral CD8 positive T-cell lymphoma with extra-cutaneous involvement: A long-standing case with an unexpected progression|url=https://pubmed.ncbi.nlm.nih.gov/28796362/|journal=Journal of Cutaneous Pathology|volume=44|issue=11|pages=964–968|doi=10.1111/cup.13020|issn=1600-0560|pmid=28796362}}</ref> |
==Links== | ==Links== | ||
Revision as of 10:50, 23 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
Indolent CD8-positive lymphoid proliferation of ear
Primary cutaneous acral CD8-positive T-cell lymphoma (older terminology; designation as lymphoma no longer preferred in the 5th edition WHO Classification)
Epidemiology / Prevalence
Rare 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
| Signs and Symptoms | Cutaneous, slowly progressive papule or nodule |
| Laboratory Findings | None |
Sites of Involvement
Ears (most common), retroauricular, nose, and feet.
Rare sites: Leg, trunk, genitals, and eyelid.[1][4] [5]
Morphologic Features
On H&E, the tumor shows a 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 may be seen, although this is less common.
Usually, the epidermis is spared, but focal minimal epidermotropism and focal folliculotropism may be seen. A Grenz zone separates 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 absent or infrequent.[1][7]
Immunophenotype
| Finding | Marker |
|---|---|
| Positive | CD3, CD8, βF1+, TIA1, CD99 |
| Positive (Golgi pattern) | CD68 |
| Ki-67/MIB1 | <10% |
| Variable | CD2, CD5, CD7 (loss of ≥ 1 of these T-cell antigens) |
| Negative | CD4, CD56, CD57, CD30, Perforin, Granzyme B, PD1, TdT, EBER (always negative) |
There is one reported case with a CD4+/CD8+ phenotype. [8]
Few reported cases have shown a high Ki67 proliferation index.[9]
The Golgi dot-like staining pattern of CD68 in tumor cells is unique to this entity.[10]
Chromosomal Rearrangements (Gene Fusions)
Chromosomal rearrangements contributing to tumor formation have not yet been described.
Individual Region Genomic Gain / Loss / LOH
Individual region genomic gain, loss, or LOH contributing to tumor formation have not yet been described
Characteristic Chromosomal Patterns
Characteristic chromosomal patterns contributing to tumor formation have not yet been described
Gene Mutations (SNV / INDEL)
Gene mutations contributing to tumor formation have not yet been described
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.[11]
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.[11][12]
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) - ↑ 11.0 11.1 Kempf, Werner; et al. (2022-05). "Clinical, histopathological and prognostic features of primary cutaneous acral CD8+ T-cell lymphoma and other dermal CD8+ cutaneous lymphoproliferations: results of an EORTC Cutaneous Lymphoma Group workshop". The British Journal of Dermatology. 186 (5): 887–897. doi:10.1111/bjd.20973. ISSN 1365-2133. PMID 34988968 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ Alberti-Violetti, Silvia; et al. (2017-11). "Primary cutaneous acral CD8 positive T-cell lymphoma with extra-cutaneous involvement: A long-standing case with an unexpected progression". Journal of Cutaneous Pathology. 44 (11): 964–968. doi:10.1111/cup.13020. ISSN 1600-0560. PMID 28796362. 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 07/23/2024, https://ccga.io/index.php/HAEM5:Primary_cutaneous_acral_CD8-positive_T-cell_lymphoproliferative_disorder.