We herein describe an unusual case of multicentric Castleman's disease accompanied by thrombocytopenia, ascites, renal failure and myelofibrosis in a Japanese woman. The patient was initially diagnosed as having myelodysplastic syndrome with myelofibrosis. The general condition of the patient deteriorated rapidly; however, treatment with tocilizumab, an anti-interleukin-6 receptor antibody, together with corticosteroids dramatically improved her symptoms. The clinical features of this case were similar to those of three cases previously reported by Takai et al. (Rinsho Ketsueki, 2010, 51:320-5), which were determined to be thrombocytopenia, anasarca, fever, reticulin myelofibrosis and organomegaly (TAFRO) syndrome, a possibly distinct clinical entity.
Summary:Case reportA 40-year-old man was diagnosed with AML in January We report an unusual case of a patient who was cured of one autoimmune disease (palmoplantar pustular pso-1992. Bone marrow cytology revealed M6 by the FAB classification with trilineage myelodysplasia. The patient riasis (PPP)) but developed another autoimmune disease (autoimmune thyroiditis) after allogeneic BMT. A 40-went into complete remission following induction chemotherapy with daunorubicin, 6-mercaptopurine, and behenoyl year-old man suffering from AML with PPP underwent allogeneic BMT from his HLA-identical sister for the cytosine arabinoside. After receiving three courses of consolidation chemotherapy, he developed skin lesions on the treatment of AML. The patient experienced complete clearance of the cutaneous PPP despite the cessation of palms and soles ( Figure 1). The skin lesions were diagnosed as PPP by histological examination in February 1993. immunosuppressive therapy for over 2 years. However, he developed hyperthyroidism with anti-thyroglobulin They were treated with combinations of topical corticosteroids and etretinate, but showed only partial response. antibodies 5 months after BMT, although he had showed normal thyroid functions without anti-thyrogloIn November 1993, after myeloablation with BU (16 mg/kg) and CY (120 mg/kg), the patient received an bulin antibodies before BMT. The donor had no history of thyroid diseases and showed normal thyroid funcallogeneic BMT from his HLA-identical younger sister, who did not suffer from PPP. The mixed lymphocyte reactions but was positive for anti-thyroglobulin antibodies. Thus, even when the donor is in a subclinical state, autotion was negative. Although the patient's elder sister had died of hyperthyroidism, his younger sister had no history immune thyroiditis may be transferred from donors to recipients by BMT.of thyroid diseases and showed normal thyroid functions, but was positive for anti-thyroglobulin antibodies. Keywords: autoimmune thyroiditis; palmoplantar pustular psoriasis; bone marrow transplantation; autoimmunity CYA and MTX were used for GVHD prophylaxis. The hematological follow-up showed stable engraftment with complete hematopoietic recovery and sustained complete chimerism. There were no signs of acute GVHD. After his It is well known that the hematopoietic and immune system of recipients is eventually replaced by donor-derived cells after allogeneic BMT. Experimental work in animal models has demonstrated that BMT can be used to treat systemic and organ-specific autoimmune diseases. 1 In humans, the resolution of immune-mediated diseases after BMT has recently been reported. [2][3][4] On the other hand, autoimmune diseases have also been transferred from donors to recipients in both mice 5 and humans 6-8 by BMT. We report the unusual case of a patient who was cured of palmoplantar pustular psoriasis (PPP) but developed autoimmune thyroiditis after allogeneic BMT. This is the first case report in which a pre-existing immune-mediated disease was cured while ...
X-linked sideroblastic anemia (XLSA) is a rare hereditary disorder that typically manifests in males as microcytic anemia. Here, we report a family with XLSA that affects females and manifests as macrocytic anemia. The proband was a Japanese woman harboring a heterozygous mutation c.679C>T in the ALAS2 gene. This mutation causes the amino acid substitution R227C, which disrupts the enzymatic activity of erythroid-specific δ-aminolevulinic acid synthase. The mutation was not detected in the ALAS2 complementary DNA from peripheral blood red blood cells of the proband, indicating that the cells were mostly derived from erythroblasts expressing wild-type ALAS2. The proband's mother, who had been diagnosed with myelodysplastic syndrome, also had XLSA with the same mutation. Clinicians should be aware that XLSA can occur not only in males but also in females, in whom it manifests as macrocytic anemia.
We report a series of 14 patients with myelodysplastic syndrome (MDS) accompanied by a monoclonal gammopathy unrelated to therapy. Twelve of these had monoclonal gammopathy of undermined significance (MGUS) and two had smoldering multiple myeloma. These cases represent 10.2 % of all MDS cases seen at our institution over a 14-year period (January 2000 to December 2013). The incidence of MGUS was determined to be significantly higher in MDS than in age-matched concurrent controls by χ(2) test. Absence of prior chemotherapy and simultaneous presentation of MDS and MGUS in most cases suggest true co-occurrence of the two disorders. MGUS was found in all WHO subtypes of MDS with a wide range of risk factors. However, 11 out of the 12 MDS cases accompanied with MGUS had relatively low karyotypic risks. In addition, serum M protein levels remained largely unchanged in 4 cases of MGUS for which serial determinations were performed. These findings indicate that MGUS may not affect the prognosis of MDS.
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