RESUMO
We herein report a case of subcutaneous panniculitis-like T-cell lymphoma (SPTCL) resembling adult-onset Still's disease (AOSD). A 40-year-old woman presented with a fever, erythema, and painful subcutaneous nodules on the trunk. Laboratory data and a bone marrow analysis showed hemophagocytic syndrome. Although AOSD was suspected, based on a histopathological evaluation of the erythema, she was diagnosed with SPTCL. She was refractory to combination chemotherapy but achieved durable remission with cyclosporine monotherapy. Genetic testing revealed a homozygous HAVCR2 c.245A>G variant (rs184868814) that had caused NLRP3 inflammasome activation. SPTCL and AOSD share a pathogenesis in terms of NLRP3 inflammasome activation, so the clinical phenotype of SPTCL reasonably mimics AOSD.
Assuntos
Linfoma de Células T , Paniculite , Doença de Still de Início Tardio , Adulto , Feminino , Humanos , Doença de Still de Início Tardio/diagnóstico , Proteína 3 que Contém Domínio de Pirina da Família NLR , Inflamassomos , Paniculite/diagnóstico , Paniculite/genética , Paniculite/patologia , Linfoma de Células T/diagnóstico , Linfoma de Células T/patologia , EritemaAssuntos
Eczema Disidrótico/diagnóstico , Linfoma Cutâneo de Células T/diagnóstico , Linfoma de Células T Periférico/diagnóstico , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica , Biópsia , Ciclofosfamida , Diagnóstico Diferencial , Doxorrubicina , Eczema Disidrótico/tratamento farmacológico , Humanos , Imuno-Histoquímica , Linfoma Cutâneo de Células T/tratamento farmacológico , Linfoma de Células T Periférico/tratamento farmacológico , Masculino , Prednisona , Tomografia Computadorizada por Raios X , VincristinaRESUMO
is missing (Quiz).
Assuntos
Fibrossarcoma/patologia , Mãos , Mixoma/patologia , Neoplasias Cutâneas/patologia , Adolescente , Humanos , MasculinoRESUMO
BACKGROUND: PCTAIRE1 (also known as cyclin-dependent kinase 16 (Cdk16) and PCTK1) is a Cdk family protein that has been implicated in spermatogenesis. We recently revealed the function of PCTAIRE1 in the tumorigenesis of malignancies, including breast and prostate cancers; however, the tumorigenic function of PCTAIRE1 in cutaneous squamous cell carcinoma (SCC) remains unclear. OBJECTIVE: In this study, we investigated the role of PCTAIRE1 in the tumorigenesis of cutaneous SCCs. METHODS AND RESULTS: In cutaneous/oral SCC A431, DJM-1, HSC-3 cells, PCTAIRE1 gene-knockdown was found to diminish cell proliferation as assessed by cell counting and clonogenic assays. FACS analyses of annexin V-PI staining and DNA content showed PCTAIRE1 knockdown to cause G2/M arrest followed by apoptosis. The depletion of PCTAIRE1 was found to lead to the accumulation of tumor suppressor p27 and down-regulation of c-Myc. In tumor xenografts of A431 cells, the conditional knockdown of PCTAIRE1 restores p27 protein expression and suppresses tumor growth. Clinically, in primary tumors from patients with SCC, PCTAIRE1 is more highly expressed in malignant lesions than in adjacent normal epidermis. Conversely, expression levels of p27 are significantly lower in SCC than in normal epidermis. CONCLUSIONS: Our findings reveal a crucial function for PCTAIRE1 in regulating p27, c-Myc levels and tumor growth in cutaneous SCC cells, suggesting that PCTAIRE1 could be a novel target for skin tumor treatment.