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.Paraplegia as Manifestation of an Isolated Central Nervous System Relapse Following Allogeneic Hematopoietic Stem Cell Transplantation in a Woman with Acute Myelogenous Leukemia.
Bi-Hui YANG ; Yan ZHU ; Juan DU ; Yu-Lin ZHANG ; Sha LI ; Lin LIU ; Xiao-Hua LUO
Chinese Medical Journal 2016;129(18):2260-2261
3.A Novel Case of Extreme Thrombocytosis in Acute Myeloid Leukemia Associated With Isochromosome 17q and Copy Neutral Loss of Heterozygosity.
Eunkyoung YOU ; Sun Young CHO ; John Jeongseok YANG ; Hee Joo LEE ; Woo In LEE ; Juhie LEE ; Kyung Sam CHO ; Eun Hae CHO ; Tae Sung PARK
Annals of Laboratory Medicine 2015;35(3):366-369
4.The First Korean Case of Sphingobacterium spiritivorum Bacteremia in a Patient with Acute Myeloid Leukemia.
Young Rae KOH ; Shine Young KIM ; Chulhun L CHANG ; Ho Jin SHIN ; Kye Hyung KIM ; Jongyoun YI
Annals of Laboratory Medicine 2013;33(4):283-287
Sphingobacterium spiritivorum has been rarely isolated from clinical specimens of immunocompromised patients, and there have been no case reports of S. spiritivorum infection in Korea to our knowledge. We report a case of S. spiritivorum bacteremia in a 68-yr-old woman, who was diagnosed with acute myeloid leukemia and subsequently received chemotherapy. One day after chemotherapy ended, her body temperature increased to 38.3degrees C. A gram-negative bacillus was isolated in aerobic blood cultures and identified as S. spiritivorum by an automated biochemical system. A 16S rRNA sequencing analysis confirmed that the isolate was S. spiritivorum. The patient received antibiotic therapy for 11 days but died of septic shock. This is the first reported case of human S. spiritivorum infection in Korea. Although human infection is rare, S. spiritivorum can be a fatal opportunistic pathogen in immunocompromised patients.
Aged
;
Anti-Bacterial Agents/therapeutic use
;
Bacteremia/*complications/drug therapy/*microbiology
;
Bone Marrow Cells/pathology
;
Fatal Outcome
;
Female
;
Humans
;
Immunocompromised Host
;
Leukemia, Myeloid, Acute/*complications
;
Phylogeny
;
RNA, Ribosomal, 16S/genetics
;
Sequence Analysis, DNA
;
Shock, Septic/etiology/microbiology
;
Sphingobacterium/classification/genetics/isolation & purification/*physiology
5.A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation.
Mi Hyun BAE ; Hyun Ki KIM ; Chan Jeoung PARK ; Eul Ju SEO ; Sang Hyuk PARK ; Young Uk CHO ; Seongsoo JANG ; Hyun Sook CHI ; Kyu Hyung LEE
Annals of Laboratory Medicine 2013;33(2):125-129
In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of SM. A 40-yr-old man was diagnosed with AML with t(8;21)(q22;q22). Mast cells were not noted at diagnosis, but appeared as immature forms at relapse. After allogeneic hematopoietic stem cell transplantation (HSCT), leukemic myeloblasts were not observed; however, neoplastic metachromatic blasts strikingly proliferated during the state of bone marrow aplasia, and finally, aleukemic mast cell leukemia developed. As the disease progressed, we observed serial morphologic changes from immature mast cells with myeloblasts to only metachromatic blasts and atypical mast cells as mast cell leukemia; FISH analysis showed that the neoplastic mast cells originated from the same clone as the leukemic myeloblasts of AML.
Adult
;
Bone Marrow Cells/pathology
;
Chromosomes, Human, Pair 21
;
Chromosomes, Human, Pair 8
;
*Hematopoietic Stem Cell Transplantation
;
Humans
;
In Situ Hybridization, Fluorescence
;
Leukemia, Mast-Cell/diagnosis/etiology
;
Leukemia, Myeloid, Acute/complications/*diagnosis/therapy
;
Leukocytes, Mononuclear/pathology
;
Male
;
Mastocytosis, Systemic/*diagnosis/etiology
;
Recurrence
;
Translocation, Genetic
;
Transplantation, Homologous
6.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
9.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
10.A Case of Pseudomembranous Colitis after Voriconazole Therapy.
Jae Cheol KWON ; Min Kyu KANG ; Si Hyun KIM ; Su Mi CHOI ; Hee Je KIM ; Woo Sung MIN ; Dong Gun LEE
Yonsei Medical Journal 2011;52(5):863-865
This is a case report on a 35-year-old man with acute myelogenous leukemia who presented fever and intermittent mucoid loose stool to the emergency center. He had been taking voriconazole for invasive pulmonary aspergillosis. The flexible sigmoidoscopy was consistent with the diagnosis of pseudomembranous colitis.
Adult
;
Antifungal Agents/*adverse effects
;
Enterocolitis, Pseudomembranous/*chemically induced/pathology
;
Humans
;
Invasive Pulmonary Aspergillosis/complications/drug therapy
;
Leukemia, Myeloid, Acute/complications
;
Male
;
Opportunistic Infections/complications/drug therapy
;
Pyrimidines/*adverse effects
;
Triazoles/*adverse effects

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