The autosomal dominant macrothrombocytopenia with leukocyte inclusions, May-Hegglin anomaly (MHA), Sebastian syndrome (SBS), and Fechtner syndrome (FTNS), are rare platelet disorders characterized by a triad of giant platelets, thrombocytopenia, and characteristic Döhle body-like leukocyte inclusions. The locus for these disorders was previously mapped on chromosome 22q12.3-q13.2 and the disease gene was recently identified as MYH9, the gene encoding the nonmuscle myosin heavy chain-A. To elucidate the spectrum of MYH9 mutations responsible for the disorders and to investigate genotypephenotype correlation, we examined MYH9 mutations in an additional 11 families and 3 sporadic patients with the disorders from Japan, Korea, and China. All 14 patients had heterozygous MYH9 mutations, including three known mutations and six novel mutations (three missense and three deletion mutations). Two cases had Alport manifestations including deafness, nephritis, and cataracts and had R1165C and E1841K mutations, respectively. However, taken together with three previous reports, including ours, the data do not show clear phenotype-genotype relationships. Thus, MHA, SBS, and FTNS appear to represent a class of allelic disorders with variable phenotypic diversity.

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We reviewed the clinical features of 150 patients with acquired pure red cell aplasia (PRCA) in Japan. There were 35 patients with acute type and 115 with chronic type PRCA. Of the acute PRCA patients, 17 had human parvovirus B19 infection. Drug‐induced PRCA was demonstrated in 7 patients. Of the 115 patients with chronic PRCA, 51 patients were classified as primary and 64 cases were associated with miscellaneous diseases such as thymoma, a variety of hematological disorders and collagen diseases. Among the hematological disorders, PRCA was most frequently seen in granular lymphocyte proliferative disorders (GLPD). The erythroid colony growth patterns from bone marrow were variable. The serum erythropoietin level was high in most patients. Various kinds of treatment were tried for the chronic PRCA cases. Cyclosporin A (CyA) was the most effective form of treatment and the response rate was 82% (31/38). Twenty‐three of 37 patients (62%) responded to bolus methylprednisolone therapy. The largest number of patients were treated with oral prednisolone, and the therapy was effective in 27 of the 55 (49%). The response rate to cyclophosphamide was only 29% (5/17), but in combination with prednisolone, half of the patients (7/14) responded to the therapy. CyA is recommended as the first‐line therapy for acquired chronic PRCA.

The authors report a 60-year-old man with Richter's syndrome, or diffuse large cell lymphoma (DLCL) occurring in a patient with either chronic lymphocytic leukemia (CLL) or Waldenström's macroglobulinemia (WM). Surface marker analysis revealed that the WM showed mu kappa surface immunoglobulin (Ig) chains, and that the DLCL showed mu lambda Ig chains. Flow cytometric DNA analysis demonstrated DNA content differences between WM and DLCL, the former diploid and the latter aneuploid. The current study suggests that Richter's syndrome derives from two independent B-cell malignancies.

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