Case report: A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia.

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic regulation, have been reported in about 20% of adult patients with myelodysplastic syndrome. We report a novel g.95805C>T, nonsense TET2 mutation, leading to a premature stop codon (p.Gln913*), in an adult patient with refractory cytopenia with multilineage dysplasia.

Association of social network and social support with health-related quality of life and fatigue in long-term survivors of Hodgkin lymphoma.

PURPOSE: As the number of survivors of Hodgkin's lymphoma (HL) increases, there has been a growing interest in long-term treatment-related side effects and their impact on the quality of life (QoL). The aim of this study was to assess the association of social network and social support with the QoL and fatigue among long-term HL survivors. METHODS: A total of 200 HL survivors were included. The generic Short Form-12 (SF-12) questionnaire, the QoL cancer survivor's questionnaire (QOL-CS), and the Multidimensional Fatigue Inventory were used to assess QoL and fatigue. Social network and social support were evaluated with the Social Support Survey. RESULTS: Social network and all social support measures were favorably associated with two or more SF-12 scales, mainly with physical functioning and the mental health scales. Social network and social support dimensions were also associated with better QOL-CS scores. Affective support, informational support, positive interaction, and emotional support were associated with less fatigue. CONCLUSIONS: Both social network and social support are associated with better QoL and lower levels of fatigue in HL survivors. This information may be useful to health professionals and community organizations in implementing effective interventions to improve these patients' quality of life.