Summary.Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We investigated the frequency of the development of PNH features including a glycosyl phosphatidylinositol (GPI) anchoring defect in 73 Japanese patients with AA. A deficient expression of CD59 was found on erythrocytes and/or granulocytes in 21/73 (28·8%) of the patients. A Ham/sugar water test was positive in 13/21 patients. We also examined mutations of the PIG-A gene in 11 patients with CD59 deficiency. A heteroduplex analysis detected PIG-A gene abnormality in 10/11 patients tested. Nucleotide sequencing was performed in six patients and identified eight mutations including three mutations in one patient. The mutations of the PIG-A gene were all different and included two single-base insertions, one single-base deletion, two two-base deletions, and one each of eight-base insertion and nine-and ten-base deletions. All mutations but one caused frameshifts. Our findings indicate that a high proportion of Japanese patients with severe AA have a GPIanchoring defect and that the PIG-A gene is mutated in the AA patients who had a GPI deficiency. We found no significant difference in the pattern of the PIG-A gene mutation between the AA patients with a GPI deficiency and those with de novo PNH.

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The relationships between paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear. Here we describe a patient, J20, who developed a reciprocal translocation of chromosome 12 and PNH during follow-up of AA. All metaphases in CD59-deficient bone marrow mononuclear cells had the translocation, whereas none of the CD59-deficient cells had it, indicating that the PNH clone coincided with a cell population bearing the chromosomal aberration. We found a somatic single-base deletion mutation in the PIG-A gene of this patient's peripheral blood cells. This is the first patient with PNH with a PNH clone containing a chromosomal translocation.

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1628 Introduction: Standard treatment for localized diffuse large B cell lymphoma (DLBCL) has been rather a short cycle of immunochemotherapy followed by involved field radiotherapy or prolonged cycles of immunochemotherapy. There is no convincing evidence in favor of either strategy. This retrospective analysis is an attempt to compare these treatment options. Methods: Patients were eligible if they had histologicaly newly diagnosed localized DLBCL by the Osaka Lymphoma Study Group (OLSG) central review panel and registered between 2003 and 2011, and received rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisolone (R-CHOP) like immunochemotherapy with more than three consecutive courses as initial therapy. In this study, we defined a localized DLBCL as DLBCL with Ann Arbor stage I or non-bulky (<10cm) stage II. One hundred thirty-seven localized DLBCL patients were analyzed retrospectively. Of 137 patients, 83 had 6 to 8 cycles of R-CHOP like immunochemotherapy (Chemo group), and 28 had 3 to 4 cycles of R-CHOP like immunochemotherapy followed by radiotherapy (Chemo+RT group). In this study, the efficacy and tolerability of the 2 treatment groups, Chemo group and Chemo+RT group, in localized DLBCL patients were compared. Treatment outcomes were evaluated, overall survival (OS), progression free survival (PFS) and toxicity were compared according to each treatment option and risk factor. Results: With a median follow-up time of 34 months, neither OS nor PFS differ between these treatment groups. The 3-year OS were 85.5% in Chemo group and 96.2% in Chemo+RT group, respectively (P=0.225). The 3-year PFS were 74.3% in Chemo group and 89.7% in Chemo+RT group, respectively (P=0.185). A multivariate Cox regression model showed that Chemo+RT group have a tendency to improve PFS [hazard ratio =0.33; 95% confidence interval 0.10–1.07; P =0.066] of localized DLBCL compared with Chemo group. Grade 3 to 4 neutropenia and neutopenic fever were more frequent in patients with Chemo group (P<0.01, P<0.01, respectively). Conclusion: For the treatment of localized DLBCL, although the difference between two treatment options was not significant in efficacy, short cycle of immunochemotherapy followed by radiation therapy seems to be superior to prolonged cycles of immunochemotherapy in terms of safety. Further studies are needed to define the optimal treatment option for localized DLBCL in the rituximab era. Disclosures: No relevant conflicts of interest to declare.

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