OBJECTIVETo report 7 cases of acquired hemoglobin H in myelodysplastic syndromes.

CASE DATA AND DISCUSSIONClinical materials of the 7 cases were retrospectively presented. Clinical features of the similar cases in literatures were reviewed. The criteria for diagnosis of this entity by Steensma and its pathogenesis were discussed.

CONCLUSIONThis entity is a new subtype of MDS with unique clinical features and pathogenesis, and might be a proper model in the study of MDS transformation.

An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.
Anemia ; complications ; Child ; Female ; GATA2 Transcription Factor ; Humans ; Lymphedema ; Mutism ; complications ; Myelodysplastic Syndromes

Myelodysplastic syndromes (MDS) are a group of refractory anemias resulting from a clonal stem cell disorder often associated with cytogenetic abnormalities. There is increasing recognition of immunological abnormalities in patients with MDS, including defective B- and T-cell function, hyper- or hypogammaglobulinemia and monoclonal gammopathy. MDS have been associated with Sjogren's syndrome, polymyalgia rheumatica, relapsing polychondritis and systemic lupus erythematosus. Although there may be various rheumatologic features, including acute arthritis in MDS, chronic inflammatory arthritis is uncommonly combined. There have been a few reports that described cases of rheumatoid arthritis (RA) concurrent with MDS, but advanced rheumatoid arthritis with typical joint deformities has rarely been reported. We report a case of rheumatoid arthritis with atlantoaxial subluxation combined with refractory anemia in a 31-year-old woman.
Adult ; Arthritis, Rheumatoid/radiography ; Arthritis, Rheumatoid/pathology ; Arthritis, Rheumatoid/complications* ; Arthritis, Rheumatoid/blood ; Case Report ; Female ; Follow-Up Studies ; Human ; Myelodysplastic Syndromes/pathology ; Myelodysplastic Syndromes/complications* ; Myelodysplastic Syndromes/blood

Trichosporonosis is a potentially life-threatening infection with Trichosporon beigelii, the causative agent of white piedra. The systemic infection by this fungus has been most frequently described in immunocompromised hosts with neutropenia. Here, we report the first patient with disseminated infection by T. beigelii in Korea, acquired during a period of severe neutropenia after chemo-therapy for myelodysplastic syndrome. The patient recovered from the infection after an early-intensified treatment with amphotericin B and a rapid neutrophil recovery. The disseminated infection by T. beigelii is still rare, however, is an emerging fatal mycosis in immunocompromised patients with severe neutropenia.
Adult ; Amphotericin B/therapeutic use ; Human ; Male ; Mycoses/drug therapy/*etiology ; Myelodysplastic Syndromes/*complications/drug therapy

Mitochondria is the main place of biological oxidation and energy transform. Mitochondrial DNA encodes the complex of respiratory chain in mitochondria and its mutation can cause a series of human disease. Mitochondrial DNA mutation which observed in myelodysplastic syndrome (MDS) patients cause the MDS by the mechanism of iron metabolism disorder, gene instability and hemopoietic progenitor cell apoptosis. In this review the characteristics of mitochondrial DNA structure, the mitochondrial DNA mutation and the possible mechanism of mitochondrial DNA mutation in pathogenesis of MDS were summarized.
Anemia, Sideroblastic ; genetics ; DNA, Mitochondrial ; genetics ; Humans ; Myelodysplastic Syndromes ; complications ; genetics ; Point Mutation

Adult ; Humans ; Male ; Myelodysplastic Syndromes ; complications ; pathology ; Pulmonary Alveolar Proteinosis ; etiology ; pathology

OBJECTIVE: To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS). METHODS: Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed. RESULTS: The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia. CONCLUSION NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.
Humans ; Karyotype ; Leukemia, Myeloid, Acute/complications* ; Myelodysplastic Syndromes/pathology* ; Prognosis ; Retrospective Studies ; Tetraploidy

Relapsing polychondritis (RP) is a rare multisystem disorder. Myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia is a rare form of myelodysplasia. Several cases of RP associated with MDS have recently been described. However, RP associated with MDS with erythroid hypoplasia/aplasia has never been reported. There was only one case report of polymyalgia rheumatica associated with MDS with erythroid hypoplasia/aplasia. In this study, we report a 79-year-old patient with RP, who developed MDS subtype refractory anemia (RA) with erythroid hypoplasia/aplasia, a very characteristic subtype of MDS.
Aged ; Biopsy ; Human ; Male ; Myelodysplastic Syndromes/*complications ; Polychondritis, Relapsing/*complications/*diagnosis/pathology ; Red-Cell Aplasia, Pure/*complications/pathology

Female ; Humans ; Leukemia, Myeloid, Acute ; complications ; etiology ; Middle Aged ; Myelodysplastic Syndromes ; complications ; etiology ; Uterine Cervical Neoplasms ; complications ; drug therapy ; radiotherapy

The aim of study was to investigate the relationship of anemia and neutropenia with ultrastructural abnormalities of erythroblasts and young neutrophils in bone marrow of patients with myelodysplastic syndrome (MDS). Anemia parameters and peripheral neutrophil amount of 74 patients with MDS were measured by automatic hemocyte analyzer. According to Hb value and neutropenia degree, MDS patients were divided into 4 groups: normal, mild, middle and severe anemia or neutropenia. The morbid rate and apoptosis rate of erythroblasts and young neutrophils in bone marrow were measured by transmission electron microscopy (TEM). The results indicated that 68 out of 74 patients were consistent with anemia diagnostic criteria, and 51 out of 68 patients were with neutrocytopenia. TEM showed different abnormal features of erythroblasts and young neutrophils in all patients. The morbid rates of erythroblasts in normal, mild, middle and severe anemia groups were 37 ± 14.7%, 24 ± 9%, 32 ± 16% and 34 ± 21% respectively, while apoptotic rates of erythroblasts in normal, mild, middle and severe anemia groups were 2.25 ± 1.03%, 4.43 ± 2.60%, 8.78 ± 4.04% and 11.67 ± 4.57% respectively. The morbid rate and apoptotic rate of erythroblasts were correlated negatively with Hb and HCT value (p < 0.05). The apoptotic rates of bone marrow young neutrophils in 4 groups with different degree of neutropenia were 6.00 ± 2.67%, 9.50 ± 4.42%, 13.00 ± 3.54% and 17.00 ± 2.39%, which correlated negatively with peripheral neutrophil quantity (p < 0.01). Morbid rates of neutrophils in normal, mild, middle and severe anemia groups were 12.25 ± 16.31%, 13.5 ± 10.01%, 23 ± 8.59% and 51.67 ± 19.67% respectively, which positively correlated with its apoptotic rates (p < 0.01). It is concluded that anemia and neutropenia in patient with MDS are correlated with apoptosis and morbid rate of erythroblasts and young neutrophils in bone marrow, which may result in ineffective hematopoiesis.
Adult ; Anemia ; complications ; pathology ; Apoptosis ; Bone Marrow Cells ; cytology ; ultrastructure ; Female ; Humans ; Male ; Myelodysplastic Syndromes ; complications ; pathology ; Neutropenia ; complications ; pathology