Asunto(s)
Leucemia de Mastocitos , Linfohistiocitosis Hemofagocítica , Sarcoma de Mastocitos , Sarcoma , Humanos , MastocitosRESUMEN
Cyclin D1 protein expression in lymphocytes is classically associated with mantle cell lymphoma. Although increasingly recognized in other lymphoproliferative disorders, cyclin D1 expression and CCND1 gene abnormalities have not been well studied in nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). Using a double stain for CD20/cyclin D1, we quantified cyclin D1 expression in 10 cases of NLPHL and correlated those findings with SOX11 expression, CCND1 gene abnormalities, and clinical data. For comparison, we examined 5 cases of T cell-/histiocyte-rich large B-cell lymphoma (THRLBCL). All cases of NLPHL stained for cyclin D1 showed at least rare positivity in lymphocyte-predominant (LP) cells. In 4 cases, at least 20% of LP cells were positive for CD20/cyclin D1. Neither SOX11 expression nor CCND1 gene rearrangement was found in any of the cases, but fluorescence in situ hybridization showed a proportion of the large cells with 3 to 4 copies of nonfused IGH and CCND1 signals or 3 intact CCND1 break-apart signals. Further study with CCND1/CEP11 showed polysomy in 6 of 9 cases with cyclin D1 expression and 5 of 16 NLPHL not examined for cyclin D1. Two of 5 cases of THRLBCL showed rare positive staining for CD20/cyclin D1; 1 case showed polysomy with CCND1/CEP11. Results show that cyclin D1 may be expressed in LP cells without SOX11 expression or CCND1 translocation. Polysomy with increased copies of CCND1 may account for cyclin D1 expression in some cases. Cyclin D1 expression is not useful for distinguishing NLPHL from THRLBCL and has no apparent clinical significance in NLPHL.
Asunto(s)
Biomarcadores de Tumor/metabolismo , Ciclina D1/metabolismo , Enfermedad de Hodgkin/metabolismo , Enfermedad de Hodgkin/patología , Linfocitos/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Inmunohistoquímica/métodos , Inmunofenotipificación/métodos , Hibridación Fluorescente in Situ/métodos , Linfoma de Células B Grandes Difuso/metabolismo , Linfoma de Células B Grandes Difuso/patología , Linfoma de Células del Manto/metabolismo , Linfoma de Células del Manto/patología , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
Hereditary sclerosing poikiloderma is a rare, familial disease with the primary clinical features being dermatologic. Widespread poikiloderma, as well as linear hyperkeratotic and sclerotic bands, tends to be the most common sign of this disease. It has been suggested that cardiac involvement may represent an important element of this disorder; however, this has not been well studied. We confirm here a case of hereditary sclerosing poikiloderma in a patient and his family with significant cardiac involvement characterized by heavily calcified stenotic aortic and mitral valves on echocardiography. Due to the patient's symptomatic severe valvular disease, he underwent simultaneous aortic and mitral valve replacement. Histopathologic analysis of the valves confirmed severe calcification of the aortic and mitral valve leaflets, suggesting a potential common mechanism between the cardiac and skin pathology of this disease. Multiple other family members had presented with similar cardiac and skin manifestations. Further research is needed to better understand the cardiac pathophysiology of this disease.
