Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics
© 2024. The Author(s)..
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL), an aggressive and heterogenic malignant entity, is still a challenging clinical problem, since around one-third of patients are not cured with primary treatment. Next-generation sequencing (NGS) technologies have revealed common genetic mutations in DLBCL. We devised an NGS multi-gene panel to discover genetic features of Chinese nodal DLBCL patients and provide reference information for panel-based NGS detection in clinical laboratories.
METHODS: A panel of 116 DLBCL genes was designed based on the literature and related databases. We analyzed 96 Chinese nodal DLBCL biopsy specimens through targeted sequencing.
RESULTS: The most frequently mutated genes were KMT2D (30%), PIM1 (26%), SOCS1 (24%), MYD88 (21%), BTG1 (20%), HIST1H1E (18%), CD79B (18%), SPEN (17%), and KMT2C (16%). SPEN (17%) and DDX3X (6%) mutations were highly prevalent in our study than in Western studies. Thirty-three patients (34%) were assigned as genetic classification by the LymphGen algorithm, including 12 cases MCD, five BN2, seven EZB, seven ST2, and two EZB/ST2 complex. MYD88 L265P mutation, TP53 and BCL2 pathogenic mutations were unfavorable prognostic biomarkers in DLBCL.
CONCLUSIONS: This study presents the mutation landscape in Chinese nodal DLBCL, highlights the genetic heterogeneity of DLBCL and shows the role of panel-based NGS to prediction of prognosis and potential molecular targeted therapy in DLBCL. More precise genetic classification needs further investigations.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:17 |
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| Enthalten in: |
BMC medical genomics - 17(2024), 1 vom: 13. Apr., Seite 84 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Cao, Bing [VerfasserIn] |
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| Links: |
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| Themen: |
Diffuse large B-cell lymphoma |
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| Anmerkungen: |
Date Completed 15.04.2024 Date Revised 25.04.2024 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s12920-024-01866-y |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM37099308X |
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| 245 | 1 | 0 | |a Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics |
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| 520 | |a BACKGROUND: Diffuse large B-cell lymphoma (DLBCL), an aggressive and heterogenic malignant entity, is still a challenging clinical problem, since around one-third of patients are not cured with primary treatment. Next-generation sequencing (NGS) technologies have revealed common genetic mutations in DLBCL. We devised an NGS multi-gene panel to discover genetic features of Chinese nodal DLBCL patients and provide reference information for panel-based NGS detection in clinical laboratories | ||
| 520 | |a METHODS: A panel of 116 DLBCL genes was designed based on the literature and related databases. We analyzed 96 Chinese nodal DLBCL biopsy specimens through targeted sequencing | ||
| 520 | |a RESULTS: The most frequently mutated genes were KMT2D (30%), PIM1 (26%), SOCS1 (24%), MYD88 (21%), BTG1 (20%), HIST1H1E (18%), CD79B (18%), SPEN (17%), and KMT2C (16%). SPEN (17%) and DDX3X (6%) mutations were highly prevalent in our study than in Western studies. Thirty-three patients (34%) were assigned as genetic classification by the LymphGen algorithm, including 12 cases MCD, five BN2, seven EZB, seven ST2, and two EZB/ST2 complex. MYD88 L265P mutation, TP53 and BCL2 pathogenic mutations were unfavorable prognostic biomarkers in DLBCL | ||
| 520 | |a CONCLUSIONS: This study presents the mutation landscape in Chinese nodal DLBCL, highlights the genetic heterogeneity of DLBCL and shows the role of panel-based NGS to prediction of prognosis and potential molecular targeted therapy in DLBCL. More precise genetic classification needs further investigations | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Diffuse large B-cell lymphoma | |
| 650 | 4 | |a Genetic subtype | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Next-generation sequencing | |
| 650 | 4 | |a Targeted sequencing | |
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| 700 | 1 | |a Sun, Chenbo |e verfasserin |4 aut | |
| 700 | 1 | |a Bi, Rui |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Zebing |e verfasserin |4 aut | |
| 700 | 1 | |a Jia, Yijun |e verfasserin |4 aut | |
| 700 | 1 | |a Cui, Wenli |e verfasserin |4 aut | |
| 700 | 1 | |a Sun, Menghong |e verfasserin |4 aut | |
| 700 | 1 | |a Yu, Baohua |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Xiaoqiu |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Xiaoyan |e verfasserin |4 aut | |
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