Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes

Abstract Background Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions. Methods Cytogenetics is an independent prognostic factor in MDS, and fluorescence in-situ hybridization (FISH) can be used as an adjunct to karyotype analysis. In the past 5 years, only 35 of 100 newly diagnosed MDS and MDS/MPN patients were identified abnormalities, who underwent the FISH panel. In addition, we examined a cohort of 51 cytopenic patients suspected MDS or MDS/MPN with a 20-gene next generation sequencing (NGS), including 35 newly diagnosed MN patients and 16 clonal cytopenias of undetermined significance (CCUS) patients. Results Compared with the CCUS group, the MN group had higher male ratio (22/13 vs 10/6), cytogenetics abnormalities rate (41.4% vs 21.4%) and frequency of a series of mutations, such as ASXL1 (28.6% vs 25%), U2AF1 (25.7% vs 25%), RUNX1 (20% vs 0.0%); also, higher adverse mutations proportion (75% vs 85.2%), and double or multiple mutations (54.3% vs 43.75%). There were 7 MN patients and 4 CCUS patients who experienced cardio-cerebrovascular embolism events demonstrated a significant difference between the two groups (25% vs 20%). Ten of the 11 patients had somatic mutations, half had DNA methylation, while the other half had RNA splicing. Additionally, six patients had disease transformation, and four patients had mutated U2AF1, including two CCUS cases and two MDS-EB cases. Following up to January 2021, there was no significant difference in over survival between the CCUS and MN groups. Conclusion NGS facilitates the diagnosis of unexplained cytopenias. The monitoring and management of CCUS is necessary, also cardio-cerebrovascular embolism events in patients with CH need attention in the clinical practice.

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Lipid profile indices in young people with GCK-MODY and HNF1A-MODY

Атеросклероз ◽

10.52727/2078-256x-2021-17-4-43-47 ◽

2022 ◽

Vol 17 (4) ◽

pp. 43-47

Author(s):

A. K. Ovsyannikova ◽

I. A. Belyaeva ◽

R. B. Galenok ◽

O. D. Rymar

Keyword(s):

Body Mass Index ◽

Young People ◽

Lipid Profile ◽

Clinical Significance ◽

Molecular Genetic ◽

Research Work ◽

Young Patients ◽

Lipid Spectrum

Despite the fact that most young patients with hyperglycemia are diagnosed with type 1 (T1DM) and type 2 (T2DM) diabetes, up to 10 % of all cases of the disease are MODY diabetes. The most common types of MODY are GCK-MODY and HNF1A-MODY, therefore the investigation of their clinical and laboratory characteristics, including lipid spectrum indicators is of high clinical significance. The aim of this research work was to study the values of lipid spectrum indicators in patients diagnosed with GCK-MODY and HNF1A-MODY at the age from 18 to 45 years. Lipid profile parameters were investigated in 56 patients aged 18 to 45 years with diagnosed GCK-MODY and HNF1A-MODY by molecular genetic tests, matched by sex, age and body mass index (BMI). No statistically significant differences were found for any of the indicators, however, in patients with HNF1A-MODY, the decrease in HDL-C is determined significantly more often than in GCKMODY. Thus, the group of persons with MODY differs in the level of lipid profile indices depending on the type of MODY.

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AB0638 Clinical significance of esr in chinese patients with systemic lupus erythematosus

10.1136/annrheumdis-2018-eular.3378 ◽

2018 ◽

Author(s):

Y. Xu ◽

X. Feng ◽

L. Sun ◽

Keyword(s):

Systemic Lupus Erythematosus ◽

Clinical Significance ◽

Lupus Erythematosus ◽

Chinese Patients ◽

Systemic Lupus

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P-69 Chromosome abnormalities in Chinese patients with primary myelodysplastic syndromes

Leukemia Research ◽

10.1016/s0145-2126(05)80133-x ◽

2005 ◽

Vol 29 ◽

pp. S50

Author(s):

Z. Xiao ◽

S. Liu ◽

X. Liu ◽

Y. Hao

Keyword(s):

Myelodysplastic Syndromes ◽

Chromosome Abnormalities ◽

Chinese Patients

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How I use molecular genetic tests to evaluate patients who have or may have myelodysplastic syndromes

Blood ◽

10.1182/blood-2018-06-860882 ◽

2018 ◽

Vol 132 (16) ◽

pp. 1657-1663 ◽

Cited By ~ 15

Author(s):

David P. Steensma

Keyword(s):

Myelodysplastic Syndromes ◽

Somatic Mutations ◽

Confounding Factor ◽

Morphological Changes ◽

Molecular Genetic ◽

Healthy Individuals ◽

Provisional Diagnosis ◽

Driver Genes ◽

Diagnostic Uncertainty ◽

Morphological Findings

Abstract Myelodysplastic syndromes (MDS) can be difficult to diagnose, especially when morphological changes in blood and marrow cells are minimal, myeloblast proportion is not increased, and the karyotype is normal. The discovery of >40 genes that are recurrently somatically mutated in MDS patients raised hope that molecular genetic testing for these mutations might help clarify the diagnosis in ambiguous cases where patients present with cytopenias and nondiagnostic marrow morphological findings. However, many older healthy individuals also harbor somatic mutations in leukemia-associated driver genes, especially in DNMT3A, TET2, and ASXL1, and detection of common aging-associated mutations in a cytopenic patient can cause diagnostic uncertainty. Despite this potential confounding factor, certain somatic mutation patterns when observed in cytopenic patients confer a high likelihood of disease progression and may allow a provisional diagnosis of MDS even if morphologic dysplasia and other diagnostic criteria are absent. A subset of acquired mutations also influences risk stratification of patients with an established MDS diagnosis and can inform treatment selection. Many unanswered questions remain about the implications of specific mutations, and clinicians also vary widely in their comfort with interpreting sequencing results. Here, I review the use of molecular genetic assays in patients with possible MDS or diagnosed MDS.

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