Perforin gene mutations in 77 Chinese patients with lymphomas

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Perforin gene mutations in 77 Chinese patients with lymphomas

BACKGROUND Perforin gene (PRF1) mutations have been reported in patients with lymphoma, but the prevalence and characteristics of PRF1 mutation have not been identified in Chinese patients with lymphoma. METHODS Seventy-seven patients with lymphoma, including 6 patients with Hodgkin lymphoma and 71 patients with non-Hodgkin lymphoma, were recruited. DNA samples from peripheral blood were used...

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Perforin is a cytolytic protein expressed mainly in activated cytotoxic lymphocytes and natural killer cells. Inherited perforin mutations account for 20% to 40% of familial hemophagocytic lymphohistiocytosis, a fatal disease of early childhood characterized by the absence of functional perforin. Aplastic anemia, the paradigm of immune-mediated bone marrow failure syndromes, is characterized by...

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A proportion of patients with lymphoma may harbor mutations of the perforin gene.

Perforin mutations have been demonstrated in a proportion of patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH). In the present study, we evaluated whether some patients with lymphoma sharing clinical characteristics with HLH might harbor mutations of the perforin gene. We analyzed 29 patients and found that 4 patients, who developed either Hodgkin or non-Hodg...

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ژورنال

عنوان ژورنال: World Journal of Emergency Medicine

سال: 2013

ISSN: 1920-8642

DOI: 10.5847/wjem.j.issn.1920-8642.2013.02.008