No abstract

MS is heterogeneous in its association with HLA alleles, and based on the immunogenetic differences, the MS patients in this population include at least two HLA-related subpopulations with and without OCB.

SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an alpha-1A-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with SCA6, with a 7-year history of progressive pure cerebellar ataxia, died of malignant lymphoma. Systematic neuropathological examination showed that neuronal degeneration was confined to the cerebellar Purkinje cells and, to a lesser degree, the granular cells, without any involvement of other central nervous system structures. Such pathological selectivity correlates with the localized expression of the responsible gene, and coincides with the neurological manifestation. These findings might contribute to establishing the phenotype of the SCA6 via comparison with other dominant ataxias.

Types of cutaneous lymphoma (CL) and their incidences may vary among geographic areas or ethnic groups. The present study aimed to investigate the incidences of various CL in Japan, using epidemiological data from a nationwide registration system for CL. Between 2007 and 2011, 1733 new patients with CL were registered from over 600 dermatological institutes in Japan. The 1733 patients registered included 1485 (85.7%) patients with mature T-and natural killer (NK)-cell neoplasms, 224 (12.9%) with B-cell neoplasms and 24 (1.4%) with blastic plasmacytoid dendritic cell neoplasm. Mycosis fungoides (MF) is the most common CL subtype in the present study (750 patients, 43.3%). The proportion of MF patients with early-stage disease was 73%, similar to that of previous studies from other cohorts. The incidence rates of adult T-cell leukemia/lymphoma and extranodal NK/T-cell lymphoma, nasal type were 16.7% and 2.0%, respectively, which may account for the higher incidence of mature T-and NK-cell neoplasms in Japan, as compared with that in the USA and Europe. A male predominance was observed in most types of CL, except for several CL subtypes such as subcutaneous panniculitis-like T-cell lymphoma.

In 2008, a revised World Health Organization (WHO) system of hematological neoplasm classification was promulgated. Between January 1995 and December 2008, 133 new patients with cutaneous lymphomas were seen at the dermatology clinic of Okayama University Hospital. All patients were re-classified according to the revised WHO system. The incidence rates were analyzed and the survival was estimated. Of 133 patients, 106 (79.7%) had primary cutaneous lymphomas (PCLs) and 27 (20.3%) were skin invasion from extracutaneous origin of systemic lymphoma. Compared with several reports from western countries, "mature T-cell and NK-cell neoplasms" was frequent in this study (87% vs. 77 or 72%) because of the occurrence of adult T-cell leukemia/lymphoma (ATLL) and "extranodal NK/T cell lymphoma, nasal type", with less frequent occurrence of "mature B-cell neoplasms" (13% vs. 23 or 28%). Estimated survival of patients with mycosis fungoides was favorable (5-year survival rate 90.6%), but that of the patients with primary cutaneous anaplastic large cell lymphoma (C-ALCL) was extremely less favorable than previously reported (5-year survival rate of 47.4%).