RESUMEN
Composite lymphoma (CL) is a rare disease defined by the occurrence of two distinct lymphomas within a single tissue at the same time. We present the case of an 89-year-old male with a clinical history of immunoglobulin M monoclonal gammopathy of undetermined significance. The patient presented cutaneous eruption of nodules on the right bottom and arm. An excisional biopsy revealed cutaneous infiltration composed of two components. The first one consisted of large B-cells with CD20+/MUM1+/BCL2+ phenotype whereas the second one involved the subcutaneous fat in a panniculitic manner, and was CD3+/CD8+/granzyme B+/TCRßF1+. The final diagnosis was CL of primary cutaneous large B-cell lymphoma-leg type (PCLBCL-leg type) and subcutaneous panniculitis-like T-cell lymphoma (SPTCL). We report and characterize for the first time coexistent PCLBCL-leg type and SPTCL in a patient.
RESUMEN
IL-20 is involved in the development of skin psoriasis. The molecular mechanisms underlying IL-20 overexpression in psoriatic epidermis remain to be elucidated. We showed that IL-20 was primarily upregulated in psoriatic skin at the post-transcriptional level. The RNA-binding protein HuR relocalized to the cytoplasm of keratinocytes (KCs) of psoriatic patients, suggesting that it stabilizes numerous transcripts, as observed in the human KC cell lines used to assess IL-20 mRNA. We characterized epidermal HuR RNA targets in psoriatic skin using ribonucleoprotein immunoprecipitation analyzed via high-throughput sequencing. Numerous transcripts that are upregulated in psoriasis were targeted by HuR, supporting the participation of HuR in pathogenic processes such as morphological changes, innate and adaptive immune responses, and metabolic inflammatory responses. Finally, we identified the metabolic sensor AMP-activated protein kinase (AMPK) as being responsible for HuR cytoplasmic relocalization because its activity was severely impaired in human psoriatic epidermis, and in vivo drug-mediated AMPK inhibition in mouse epidermis promoted HuR cytoplasmic localization, IL-20 overproduction, acanthosis, and hyperkeratosis. These results provide insights into the molecular links between metabolism and post-transcriptional networks during chronic inflammation.
Asunto(s)
Proteínas Quinasas Activadas por AMP/metabolismo , Proteína 1 Similar a ELAV/metabolismo , Regulación de la Expresión Génica , Interleucinas/genética , Psoriasis/genética , Psoriasis/patología , Proteínas Quinasas Activadas por AMP/genética , Animales , Biopsia con Aguja , Células Cultivadas , Modelos Animales de Enfermedad , Proteína 1 Similar a ELAV/genética , Humanos , Inmunohistoquímica , Queratinocitos/citología , Queratinocitos/metabolismo , Ratones , Ratones Endogámicos C57BL , Interferencia de ARN , ARN Mensajero/genética , Distribución Aleatoria , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Piel/citología , Piel/patología , Estadísticas no Paramétricas , Regulación hacia ArribaRESUMEN
BACKGROUND: Macular arteritis, macular lymphocytic arteritis (MLA) or lymphocytic thrombophilic arteritis all correspond to an identical new clinicopathological entity. Its individualization as a primary cutaneous lymphocytic arteritis is still controversial for certain authors as it could represent a latent form of cutaneous polyarteritis nodosa. MATERIALS AND METHODS: We report here 3 additional cases of MLA, present a review of the literature and discuss the disease's nosology. RESULTS: MLA is characterized clinically by a benign skin eruption consisting in bilateral asymptomatic erythematous/hyperpigmented macules mainly located on the lower legs and histologically by a medium-sized cutaneous lymphocytic prominent arteritis present in early cutaneous lesions. CONCLUSION: These findings support that MLA may be considered as a chronic and indolent primary lymphocytic cutaneous arteritis. Nevertheless, in some cases the objective obliteration of cutaneous vessels underlines the need for continuous monitoring in MLA patients.
Asunto(s)
Arteritis/patología , Hiperpigmentación/patología , Linfocitos , Adulto , Arteritis/clasificación , Arteritis/inmunología , Diagnóstico Diferencial , Femenino , Humanos , Hiperpigmentación/inmunología , Pierna/patología , Linfocitos/inmunología , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Enfermedades Cutáneas Vasculares/patologíaAsunto(s)
Enfermedades de la Uña/patología , Neoplasias Cutáneas/patología , Anciano , Humanos , MasculinoAsunto(s)
Meningioma/patología , Metástasis de la Neoplasia/patología , Biopsia , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias Orbitales/patología , Neoplasias Orbitales/secundario , Cuero Cabelludo/patología , Tomografía Computarizada por Rayos XRESUMEN
Dermatofibrosarcoma protuberans (DFSP) is a rare, dermal neoplasm of intermediate malignancy. It is made of spindle-shaped tumor cells in a storiform pattern positive for CD34. Cytogenetically, DFSP cells are characterized by either supernumerary ring chromosomes composed of sequences derived from chromosomes 17 and 22 or more rarely of translocations t(17;22). These chromosomal rearrangements lead to the formation of a specific chimeric gene fusing COL1A1 to PDGFB. So far, the COL1A1-PDGFB fusion gene remains the sole fusion gene identified in DFSP. However, some observations suggest that genes, other than COL1A1 and PDGFB, might be involved in some DFSP cases. We report in this paper a DFSP case presenting as a unique chromosomal abnormality a complex translocation between chromosomes 5 and 8. This is the first report of a DFSP case where the lack of chromosomes 17 and 22 rearrangement and the absence of COL1A1-PDGFB fusion gene have been demonstrated. Using fluorescence in situ hybridization analysis, we showed that the CSPG2 gene at 5q14.3 and the PTK2B gene at 8p21.2 were disrupted by this rearrangement. Although rare, the existence of cases of DFSP negative for the COL1A1-PDGFB fusion has to be taken in consideration when performing molecular diagnosis for a tumor suspected to be a DFSP.