The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing

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 fl...

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Autores principales:	Lijuan Zhang, YuYe Shi, Yue Chen, Shandong Tao, Wenting Shi, Zhengmei He, Kankan Chen, Chunling Wang, Liang Yu
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Cytopenia Clonal hematopoiesis Myeloid neoplasms Next-generation sequencing Genetics QH426-470
Acceso en línea:	https://doaj.org/article/6bd0714c01404f499a1bdb29b7638b34
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spelling	oai:doaj.org-article:6bd0714c01404f499a1bdb29b7638b342021-11-21T12:03:38ZThe genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing10.1186/s13039-021-00572-z1755-8166https://doaj.org/article/6bd0714c01404f499a1bdb29b7638b342021-11-01T00:00:00Zhttps://doi.org/10.1186/s13039-021-00572-zhttps://doaj.org/toc/1755-8166Abstract 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.Lijuan ZhangYuYe ShiYue ChenShandong TaoWenting ShiZhengmei HeKankan ChenChunling WangLiang YuBMCarticleCytopeniaClonal hematopoiesisMyeloid neoplasmsNext-generation sequencingGeneticsQH426-470ENMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cytopenia Clonal hematopoiesis Myeloid neoplasms Next-generation sequencing Genetics QH426-470
spellingShingle	Cytopenia Clonal hematopoiesis Myeloid neoplasms Next-generation sequencing Genetics QH426-470 Lijuan Zhang YuYe Shi Yue Chen Shandong Tao Wenting Shi Zhengmei He Kankan Chen Chunling Wang Liang Yu The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
description	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.
format	article
author	Lijuan Zhang YuYe Shi Yue Chen Shandong Tao Wenting Shi Zhengmei He Kankan Chen Chunling Wang Liang Yu
author_facet	Lijuan Zhang YuYe Shi Yue Chen Shandong Tao Wenting Shi Zhengmei He Kankan Chen Chunling Wang Liang Yu
author_sort	Lijuan Zhang
title	The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
title_short	The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
title_full	The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
title_fullStr	The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
title_full_unstemmed	The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
title_sort	genetic analysis of chinese patients with clonal cytopenias using targeted next-generation sequencing
publisher	BMC
publishDate	2021
url	https://doaj.org/article/6bd0714c01404f499a1bdb29b7638b34
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The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing

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