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Lymphomatoid papulosis (LyP) with 6p25.3 rearrangement DUSP22 and IRF4/

Written2013-09Laszlo J Karai, Andrew L Feldman
Aurora, DermDx Miami, 16250 NW 59 Ave., Suite 206, Miami Lakes, FL 33014, USA (LJK); Department of Laboratory Medicine, Pathology, College Of Medicine, Mayo Clinic, 200 First Street SW, Hilton Building, Room 8-00F, Rochester, MN 55905, USA (ALF)

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9718/1 Lymphomatoid papulosis
Atlas_Id 1658

Clinics and Pathology

Disease Lymphomatoid papulosis (LyP)
Phenotype / cell stem origin Mature (peripheral) T cell.
Etiology No etiologic factors are known.
Epidemiology All reported cases occurred in elderly adults (67-88 years, mean 75 years) with strong male predominance (9M:2F) (Karai et al., 2013).
Clinics The lesions are usually restricted to a single body area. Affected sites included the head and neck, upper torso, and extremities. Lesions ranged in size from 0.3 cm to 1.0 cm in diameter and had variable scale but no ulceration. No patient had disseminated cutaneous disease or clinical evidence of extracutaneous disease.
 
Lymphomatoid papulosis with 6p25.3 rearrangement. Low power H&E image shows a prominent lymphoid nodule in the dermis (A) with characteristic pagetoid reticulosis-like epidermal involvement (B) at medium power. Inset in (A) shows high power image of atypical cells with small to medium nuclei and with the presence of frequent apoptotic bodies and mitotic figures. Immunohistochemical stains reveal a CD3 and CD30 positive phenotype with high proliferative ratio depicted by Ki-67 (C, D, and E, respectively).
Pathology The histological features are remarkably consistent and different from the other types of cutaneous LyPs. Salient features include: prominent dermal nodule with the overlying epidermis showing pagetoid reticulosis-like histological changes. Marked periadnexal involvement is sometimes present. Tumor cells are mostly small to medium-sized with markedly irregular nuclei. Lesions show high mitotic rate and the presence of frequent apoptotic bodies. Necrosis is absent. No significant amount of eosinophils and neutrophils are present.
Treatment No established treatment. Most of the lesions involute spontaneously and without therapy. Consideration to radiation, injection with kenalog or excision can be made depending on individual presentation.
Evolution Similar to other types of LyP, recurring-remitting course.
Prognosis According to the series of 11 patients the prognosis is good (Karai et al., 2013).

Cytogenetics

Cytogenetics Morphological Karyotypic findings have not been reported.
 
  Breakapart FISH for the DUSP22-IRF4 locus on 6p25.3 demonstrates abnormal separation of the red and green signals in the cell in the lower left (arrows). A cell with a normal signal pattern (two fusion signals, f) is seen in the upper right.
Probes See Karai et al., 2013.
Additional anomalies Unknown.
Variants Unknown.

Genes involved and Proteins

Note The breakapart probe used to identify 6p25.3 rearrangements in LyP spans both the DUSP22 and the IRF4 genes. The specific breakpoints have not been reported in LyP. In ALK-negative anaplastic large cell lymphomas (ALCLs), 6p25.3 breakpoints in or near either gene have been reported (Feldman et al., 2011). The partner locus was confirmed to be 7q32.3 in a single case of LyP tested, analogous to the t(6;7)(p25.3;q32.3) reported in ALCLs, but was not investigated in the remaining reported cases.
Gene Name DUSP22
Location 6p25.3
Protein DUSP22 encodes a dual-specificity phosphatase that inhibits T-cell antigen-receptor signaling in T cells by inactivating the MAP kinase, ERK2. The expression and function of DUSP22 in cases of LyP with 6p25.3 rearrangements have not been reported.
Gene Name IRF4
Location 6p25.3
Protein IRF4 encodes a transcription factor, IRF4/MUM1, critical in lymphocyte activation and differentiation. Although IRF4/MUM1 is expressed in most cases of LyP, the expression and function of IRF4/MUM1 in cases of LyP with 6p25.3 rearrangements have not been reported.

Result of the chromosomal anomaly

Hybrid gene
Note Not known.
  
Fusion Protein
Note Not known.
  

Bibliography

Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing.
Feldman AL, Dogan A, Smith DI, Law ME, Ansell SM, Johnson SH, Porcher JC, Ozsan N, Wieben ED, Eckloff BW, Vasmatzis G.
Blood. 2011 Jan 20;117(3):915-9. doi: 10.1182/blood-2010-08-303305. Epub 2010 Oct 28.
PMID 21030553
 
Chromosomal rearrangements of 6p25.3 define a new subtype of lymphomatoid papulosis.
Karai LJ, Kadin ME, Hsi ED, Sluzevich JC, Ketterling RP, Knudson RA, Feldman AL.
Am J Surg Pathol. 2013 Aug;37(8):1173-81. doi: 10.1097/PAS.0b013e318282d01e.
PMID 23648461
 

Citation

This paper should be referenced as such :
Karai, LJ ; Feldman, AL
Lymphomatoid papulosis (LyP) with 6p25.3 rearrangement
Atlas Genet Cytogenet Oncol Haematol. 2014;18(3):194-196.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/LymphoPapulosis6p25ID1658.html


External links

COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMapTopo ( C42) Morph ( 9718/1) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseLymphomatoid papulosis (LyP) with 6p25.3 rearrangement DUSP22 and IRF4/
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