1.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
;
Karyotype
;
Leukemia, Myeloid, Acute/complications*
;
Myelodysplastic Syndromes/pathology*
;
Prognosis
;
Retrospective Studies
;
Tetraploidy
2.Endoscopic Submucosal Dissection for Early Gastric Cancer in a Patient with Myelodysplastic Syndrome.
Eun Joo LIM ; Eun Hui SIM ; Byung Wook KIM ; Jong In KIM ; Joon Sung KIM ; Jeong Seon JI ; Hwang CHOI
The Korean Journal of Gastroenterology 2015;65(3):173-176
Endoscopic submucosal dissection (ESD) has been successfully performed in thrombocytopenic conditions such as in patients with liver cirrhosis but successful ESD for early gastric cancer (EGC) in hematologic diseases has rarely been reported. A 52-year-old male patient, who had previously been diagnosed with myelodysplastic syndrome 2 years ago, was admitted to our hospital for ESD of EGC. ESD was performed successfully in this patient after platelet concentrates transfusion on the day of ESD. ESD might be an option for the treatment of EGC in thrombocytopenia due to hematologic diseases when optimal supportive managements are applied.
Early Detection of Cancer
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Endosonography
;
Gastric Mucosa/*surgery
;
Gastroscopy
;
Humans
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Male
;
Middle Aged
;
Myelodysplastic Syndromes/complications/*diagnosis/pathology
;
Stomach Neoplasms/complications/*diagnosis/pathology
;
Tomography, X-Ray Computed
3.A Case of Inguinal Sparganosis Mimicking Myeloid Sarcoma.
Jin Yeob YEO ; Jee Young HAN ; Jung Hwan LEE ; Young Hoon PARK ; Joo Han LIM ; Moon Hee LEE ; Chul Soo KIM ; Hyeon Gyu YI
The Korean Journal of Parasitology 2012;50(4):353-355
We report here a case of inguinal sparganosis, initially regarded as myeloid sarcoma, diagnosed in a patient undergone allogeneic hematopoietic transplantation (HSCT). A 56-year-old male patient having myelodysplastic syndrome was treated with allogeneic HSCT after myeloablative conditioning regimen. At day 5 post-HSCT, the patient complained of a painless palpable mass on the left scrotum and inguinal area. Pelvic magnetic resonance imaging and computed tomography revealed suspected myeloid sarcoma. Gun-biopsy was performed, and the result revealed eosinophilic infiltrations without malignancy. Subsequent serologic IgG antibody test was positive for sparganum. Excisional biopsy as a therapeutic diagnosis was done, and the diagnosis of sparganosis was confirmed eventually. This is the first report of sparganosis after allogeneic HSCT mimicking myeloid sarcoma, giving a lesson that the physicians have to consider the possibility of sparganosis in this clinical situation and perform adequate diagnostic and therapeutic approaches.
Animals
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Diagnosis, Differential
;
Hematopoietic Stem Cell Transplantation
;
Humans
;
Larva
;
Magnetic Resonance Imaging
;
Male
;
Middle Aged
;
Myelodysplastic Syndromes/complications/surgery
;
Republic of Korea
;
Sarcoma, Myeloid/diagnosis
;
Scrotum/parasitology/*pathology
;
Sparganosis/parasitology/*pathology/radiography
;
Sparganum/*immunology/isolation & purification
;
Tomography, X-Ray Computed
;
Transplantation, Homologous
4.Analysis of clinical features and prognosis of primary myelodysplastic syndromes with myelofibrosis patients.
Tao SU ; Pei-hong ZHANG ; Ze-feng XU ; Hui-shu CHEN ; Tie-jun QIN ; Yue ZHANG ; Hong-li ZHANG ; Li-wei FAN ; Li-juan PAN ; Zhi-jian XIAO
Chinese Journal of Hematology 2012;33(5):378-382
OBJECTIVETo analyze the clinical features and prognosis of the primary myelodysplastic syndrome with myelofibrosis (MDS-MF) patients and to improve the cognition of MDS-MF.
METHODSFour hundred and sixty-six primary MDS patients with bone marrow (BM) biopsy were divided into two groups according to whether BM associated with fibrosis, the clinical features and prognosis of the two groups were analyzed retrospectively.
RESULTS167 (35.8%) MDS cases revealed myelofibrosis, of which MF-1 123 cases (26.4%), MF-2 40 cases (8.6%), MF-3 4 cases (0.9%). The proportion of hepatosplenomegaly in MDS-MF group was significantly higher than in MDS without MF group, the difference had statistical significance (P = 0.031). The proliferation of BM biopsy in MDS-MF group was significantly more active than in MDS without MF group. The number of blasts, megakaryocytes and abnormal megakaryocytes in MDS-MF group were significantly higher than in MDS without MF group, the differences had statistical significance (P < 0.05). Among the 345 patients who had available results of cytogenetic analysis, 121 cases were MDS-MF patients, the proportion of middle and high-risk prognostic group according to IPSS karyotype prognosis groups in MDS-MF group were significantly higher than in MDS without MF group, the differences had statistical significance (P = 0.047). The median survival was 17 (1 - 60) months in MDS-MF group, and was 32 (1 - 62) months in MDS without MF group. The difference had statistical significance (P = 0.001). Myelofibrosis had independent prognostic significance by multi-variable analysis (P = 0.019).
CONCLUSIONThe myelofibrosis in MDS is main the proliferation of reticular fiber. The proliferation of reticular fiber is closely related with the number of blast cells, the proliferation and developmental abnormalities of megakaryocytes and the karyotype. The prognosis of MDS-MF patients is poor.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Humans ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; complications ; diagnosis ; pathology ; Primary Myelofibrosis ; complications ; diagnosis ; pathology ; Prognosis ; Retrospective Studies ; Young Adult
6.Detection of RUNX1-MECOM Fusion Gene and t(3;21) in a Very Elderly Patient Having Acute Myeloid Leukemia with Myelodysplasia-Related Changes.
John Jeongseok YANG ; Sun Young CHO ; Jin Tae SUH ; Hee Joo LEE ; Woo In LEE ; Hwi Joong YOON ; Sun Kyung BAEK ; Tae Sung PARK
Annals of Laboratory Medicine 2012;32(5):362-365
An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27x10(9)/L, and white blood cell counts of 85.33x10(9)/L with 55% blasts. Peripheral blood samples were used in all the tests, as bone marrow examination could not be performed because of the patient's extremely advanced age and poor general health condition. Flow cytometric analysis, chromosome analysis, FISH, and reverse transcriptase-PCR (RT-PCR) results indicated AML-MRC resulting from t(3;21) with the RUNX1-MECOM fusion gene. To our knowledge, this is the second most elderly de novo AML patient associated with t(3;21) to be reported.
Aged, 80 and over
;
Blood Cells/pathology
;
Chromosomes, Human, Pair 21
;
Chromosomes, Human, Pair 3
;
Female
;
Humans
;
Karyotyping
;
Leukemia, Myeloid, Acute/complications/*diagnosis/genetics
;
Multiplex Polymerase Chain Reaction
;
Myelodysplastic Syndromes/complications/*diagnosis/genetics
;
Oncogene Proteins, Fusion/*genetics
;
Sequence Analysis, DNA
;
*Translocation, Genetic
7.Electrocardiography series. Non-ischaemic causes of ST segment elevation.
Ivandito KUNTJORO ; Swee Guan TEO ; Kian Keong POH
Singapore medical journal 2012;53(6):367-quiz 371
ST segment elevation is one of the most important electrocardiographic features that need to be recognised. Although ST segment elevation myocardial infarction is one of the main causes of this abnormality, there are other non-ischaemic causes that are also important. We discuss reversible apical ballooning syndrome or Takotsubo cardiomyopathy, pericarditis and a case of ST segment elevation due to 'early repolarisation pattern'.
Cardiology
;
methods
;
Coronary Angiography
;
methods
;
Dyslipidemias
;
complications
;
Electrocardiography
;
methods
;
Female
;
Humans
;
Leukemia, Myeloid, Acute
;
complications
;
Male
;
Middle Aged
;
Myelodysplastic Syndromes
;
complications
;
Myocardial Infarction
;
complications
;
diagnosis
;
Myocardial Ischemia
;
pathology
;
Prostatic Neoplasms
;
complications
;
Respiratory Tract Infections
;
complications
8.Correlation between ultrastructural abnormality of bone marrow cells and anemia and neutropenia in myelodysplastic syndrome.
Hua-Mei ZHANG ; Jin-Hua LIU ; Shi-Xuan ZHAO ; Shu-Xu DONG ; Xiao-Fan ZHU ; Yong-Xin RU ; Zhi-Jian XIAO
Journal of Experimental Hematology 2011;19(1):81-84
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
9.Re-evaluation of classification of myelodysplastic syndromes with low percentage bone marrow blasts.
Ming-Hua YU ; Ze-Feng XU ; Lin LI ; Ling NIE ; Liang LIU ; Yue ZHANG ; Tie-Jun QIN ; Yu-Shu HAO ; Zhi-Jian XIAO
Chinese Journal of Hematology 2009;30(1):3-7
OBJECTIVETo apply the WHO criteria and the minimal diagnostic criteria to the classification of myelodysplastic syndromes (MDS) with low percentage (< 0.050) bone marrow (BM) blasts.
METHODSTwo hundred and ten MDS patients with less than 0.050 BM blasts diagnosed between 1988 and 2005 according to FAB criteria were retrospectively reclassified with WHO criteria (2001) and minimal diagnostic criteria.
RESULTSAccording to the WHO criteria, 5 patients were diagnosed as refractory anemia (RA), 7 as refractory anemia with ringed sideroblasts (RARS), 76 as refractory cytopenia with multilineage dysplasia (RCMD), 9 as RCMD-RS, 35 as MDS-unclassified (MDS-U), 3 as 5q - syndromes, and the rest 75 patients could not be classified suitably. Among the latter 75 patients 16 BM smears showed dysplasia in more than 2 cell lineage but only unilineage cytopenia in peripheral blood (PB). Nine of them were reclassified as RCMD after followed up for more than half a year. Forty-four BM smears showed erythroid dysplasia only, but bicytopenia or pancytopenia in PB. Twenty-seven of them were classified as RCMD after follow-up. Fifteen BM smears not showed dysplasia in any myeloid lineage were reclassified as MDS (5 patients), HS-MDS (5 patients) and idiopathic cytopenia of uncertain significance (ICUS) (5 patients) according to the MDS minimal diagnostic criteria.
CONCLUSIONAccording to WHO criteria (2001), RA is the least diagnosis in MDS. The minimal diagnostic criteria for MDS classification of patients not fulfilled the standard criteria of MDS.
Adolescent ; Adult ; Aged ; Anemia, Refractory ; etiology ; Bone Marrow ; pathology ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; classification ; complications ; diagnosis ; pathology ; Prognosis ; Retrospective Studies ; Young Adult
10.Secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome.
Li-Xin XIE ; Tie-Mei ZHAO ; Qiao-Yun WANG ; Liang-An CHEN ; Ai-Min LI ; Dian-Jun WANG ; Fei QI ; You-Ning LIU
Chinese Medical Journal 2007;120(12):1114-1116

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