1.Myelodysplastic syndromes associated with acquired hemoglobin H disease.
Jun-yuan QI ; Feng-kui ZHANG ; Ze-ping ZHOU ; Yu-ping ZHAO ; Ren-chi YANG ; Lin-sheng QIAN ; Yi-zhou ZHENG
Chinese Journal of Hematology 2007;28(5):327-329
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.
Adult ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; complications ; alpha-Thalassemia ; complications
2.Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl.
Ling-Ling CHEN ; Xiang-Ling HE ; Ke-Ke CHEN
Chinese Journal of Contemporary Pediatrics 2019;21(11):1105-1109
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
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complications
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Child
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Female
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GATA2 Transcription Factor
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Humans
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Lymphedema
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Mutism
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complications
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Myelodysplastic Syndromes
3.Rheumatoid arthritis associated with myelodysplastic syndrome: a case report.
Eon Jeong NAM ; Young Mo KANG ; Hye Ryun KANG ; Jae Han KIM ; Hyun Joo RHO ; Myoung Kwon LEE ; Sang Hoon HYUN ; Gun Woo KIM ; Jong Myoung LEE ; Nung Soo KIM
Journal of Korean Medical Science 1999;14(3):319-322
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
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Arthritis, Rheumatoid/radiography
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Arthritis, Rheumatoid/pathology
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Arthritis, Rheumatoid/complications*
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Arthritis, Rheumatoid/blood
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Case Report
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Female
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Follow-Up Studies
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Human
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Myelodysplastic Syndromes/pathology
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Myelodysplastic Syndromes/complications*
;
Myelodysplastic Syndromes/blood
4.A Case of Disseminated Trichosporon beigelii Infection in a Patient with Myelodysplastic Syndrome after Chemotherapy.
Jong Chul KIM ; Yang Soo KIM ; Chul Sung PARK ; Jae Myung KANG ; Baek Nam KIM ; Jun Hee WOO ; Jiso RYU ; Woo Gun KIM
Journal of Korean Medical Science 2001;16(4):505-508
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
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Amphotericin B/therapeutic use
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Human
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Male
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Mycoses/drug therapy/*etiology
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Myelodysplastic Syndromes/*complications/drug therapy
5.Relationship between mitochondrial DNA and myelodysplastic syndromes - review.
Journal of Experimental Hematology 2008;16(3):712-716
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
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genetics
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DNA, Mitochondrial
;
genetics
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Humans
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Myelodysplastic Syndromes
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complications
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genetics
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Point Mutation
7.Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype.
Juan WU ; Huijie LIN ; Chengxuan CHEN ; Yue LUO ; Wei DAI ; Xiaolan LIN ; Wanzi CHEN ; Qiang FU ; Qin YUAN ; Jiadi CHEN
Chinese Journal of Medical Genetics 2020;37(12):1336-1339
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
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Karyotype
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Leukemia, Myeloid, Acute/complications*
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Myelodysplastic Syndromes/pathology*
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Prognosis
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Retrospective Studies
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Tetraploidy
8.A Case of Relapsing Polychondritis Associated with Myelodysplastic Syndrome with Erythroid Hypoplasia/Aplasia.
Seong Wook HEO ; Kyu Hyun CHO ; Jung Il RYU ; Seung Hie CHUNG ; Chae Gi KIM ; Sang Gyung KIM ; Jung Yoon CHOE
The Korean Journal of Internal Medicine 2003;18(4):251-254
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
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Biopsy
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Human
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Male
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Myelodysplastic Syndromes/*complications
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Polychondritis, Relapsing/*complications/*diagnosis/pathology
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Red-Cell Aplasia, Pure/*complications/pathology
9.Clinical Characteristics and Prognosis of Patients with Hematological Malignancies Superimposed with Solid Tumors.
Lin GUI ; Wei ZHANG ; Jing Ning SHI ; Wen Jing ZHANG ; Zhi Nan YANG ; Yong Chao MA ; Bao An CHEN
Journal of Experimental Hematology 2022;30(3):924-929
OBJECTIVE:
To investigate the clinical characteristics and prognosis of hematological malignancies superimposed patients with solid tumors.
METHODS:
The clinical data of 30 patients with more than two kinds of malignancy (the second is hematological malignancy) from October 2011 to October 2020 in Department of Hematology, Jiangning Hospital Affiliated to Nanjing Medical University were collected and analyzed retrospectively. The overall survival time was used as the prognostic evaluation standard, and the survival of patients were analyzed by KaplanMeier method. Logrank test and Cox regression model were used to carry out univariate and multivariate retrospective analysis on clinical and laboratory parameters of 30 patients.
RESULTS:
Among 30 cases, 20 were male, 10 were female, the median age of onset of the second tumor was 70 years old. The common types of the secondary hematological malignancies to solid tumors are myelodysplastic syndrome, acute myeloid leukemia, multiple myeloma. Univariate analysis showed that patients' gender, age, type of solid tumors, the onset of interval between two kinds of tumor, chromosome karyotype were not related to do with the patients' overall survival time. Type of hematologic disease, ECOG score were associated with patients' overall survival time, and the multivariate analysis showed that the type of hematologic disease and ECOG score were independent risk factors for patients with poor prognosis.
CONCLUSION
Patients superimposed with solid tumors complicated with myelodysplastic syndrome or acute leukemia and ECOG score ≥3 have poor prognosis and shorter overall survival time, which are independent risk factors influencing the prognosis. Bone marrow injury, immune dysfunction and genetic susceptibility after chemoradiotherapy may be the main causes of these diseases.
Aged
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Female
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Hematologic Neoplasms/complications*
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Humans
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Leukemia, Myeloid, Acute/complications*
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Male
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Myelodysplastic Syndromes/complications*
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Prognosis
;
Retrospective Studies