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The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

Wu, Xia, Deng, Jili, Zhang, Nanchen, Liu, Xiaoyan, Zheng, Xue, Yan, Tianyou, Ye, Wu, Gong, Yuping·2022·BMC Cancer
DOI 10.1186/s12885-022-09347-0PMC PMC8917718
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Abstract

Background: Increasing germline gene mutations have been discovered in haematological malignancies with the development of next-generation sequencing (NGS), which is critical for proper clinical management and long-term follow-up of affected individuals. Tet methylcytosine dioxygenase 2 (TET2) is one of the most common mutations in haematological neoplasms. We aimed to compare the clinical characteristics of patients with germline and somatic TET2 mutations in haematological diseases and to analyse whether germline TET2 mutations have a family aggregation and tumour predisposition. Methods: Out of 612 patients who underwent NGS of 34 recurrently mutated genes in haematological diseases, 100 haematological patients with TET2 mutations were selected for further study. Somatic mutations were detected by NGS in bone marrow/peripheral blood genomic DNA (gDNA). Germline TET2 mutations were validated in nail/hair gDNA by Sanger sequencing. Digital data were extracted from the haematology department of the West China Hospital of Sichuan University. TET2 mutation results were analysed by referencing online public databases (COSMIC and ClinVar). Results: One hundred patients were studied, including 33 patients with germline and 67 patients with somatic TET2 mutations. For germline TET2 mutations, the variant allele frequency (VAF) was more stable (50.58% [40.5–55], P < 0.0001), and mutation sites recurrently occurred in three sites, unlike somatic TET2 mutations. Patients with germline TET2 mutations were younger (median age 48, 16–82 years) (P = 0.0058) and mainly suffered from myelodysplastic syndromes (MDS) (n = 13, 39.4%), while patients with somatic TET2 mutations were mainly affected by acute myeloid leukemia (AML) (n = 26, 38.8%) (P = 0.0004). Germline TET2 mutation affected the distribution of cell counts in the peripheral blood and bone marrow (P < 0.05); it was a poor prognostic factor for MDS patients via univariate analysis (HR = 5.3, 95% CI: 0.89–32.2, P = 0.0209) but not in multivariate analysis using the Cox regression model (P = 0.062). Conclusions: Germline TET2 mutation might have a family aggregation, and TET2 may be a predisposition gene for haematological malignancy under the other gene mutations as the second hit. Germline TET2 mutation may play a role in the proportion of blood and bone marrow cells and, most importantly, may be an adverse factor for MDS patients.

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Figures

Fig. 1 Pipeline used for the identification of germline and somatic TET2 mutations
Fig. 1 Pipeline used for the identification of germline and somatic TET2 mutationsCC BY · PubMed Central
Fig. 2 The pedigrees of nine patients with germline TET2 mutations. Family number was in accordance with the patient number. Nails and hairs were used as the germline DNA origin to test the TET2 status. More details of the pedigree investigation are supplied in the supplemental manuscript
Fig. 2 The pedigrees of nine patients with germline TET2 mutations. Family number was in accordance with the patient number. Nails and hairs were used as the germline DNA origin to test the TET2 status. More details of the pedigree investigation are supplied in the supplemental manuscriptCC BY · PubMed Central
Fig. 3 Comutated gene distribution in patients with germline and somatic TET2 mutations. A and B Comutated genes in patients with TET2 germline and somatic mutations, respectively. Each column in the figure represents a patient, and the digital at the right is the number of patients with each mutant gene. Germline mutation (blue), somatic mutation (red), germline and somatic mutation (black)
Fig. 3 Comutated gene distribution in patients with germline and somatic TET2 mutations. A and B Comutated genes in patients with TET2 germline and somatic mutations, respectively. Each column in the figure represents a patient, and the digital at the right is the number of patients with each mutant gene. Germline mutation (blue), somatic mutation (red), germline and somatic mutation (black)CC BY · PubMed Central
Fig. 4 Survival outcomes in patients with germline and somatic TET2 mutations. Kaplan–Meier curves are stratified by TET2 mutation status: germline TET2 mutation (red), somatic TET2 mutation (blue). A OS in all patients with germline and somatic TET2 mutations. B OS in MDS patients with germline and somatic TET2 mutations
Fig. 4 Survival outcomes in patients with germline and somatic TET2 mutations. Kaplan–Meier curves are stratified by TET2 mutation status: germline TET2 mutation (red), somatic TET2 mutation (blue). A OS in all patients with germline and somatic TET2 mutations. B OS in MDS patients with germline and somatic TET2 mutationsCC BY · PubMed Central

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Research works printed but not linked: 1

  1. Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood 2015;126(10):1214–1223. · DOI

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Metadata

Authors
Wu, X., Deng, J., Zhang, N., Liu, X., Zheng, X., Yan, T., Ye, W., & Gong, Y.
ORCID
Gong, Yuping
Venue
BMC Cancer
Publisher
Springer Science and Business Media LLC
Published
2022-03-12
Volume
22
Issue
1
ISSN
1471-2407
DOI
10.1186/s12885-022-09347-0
PMC
PMC8917718
Cited by
10
References
43
Language
en
Licence
Funders
Sichuan Province Science and Technology Support Program (2019YFS0026)

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