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Case report: TP53 c.848G>A germline mutation as a possible screening target at initial diagnosis for acute lymphoblastic leukemia.
- Source :
-
Hematology (Amsterdam, Netherlands) [Hematology] 2024 Dec; Vol. 29 (1), pp. 2377860. Date of Electronic Publication: 2024 Jul 15. - Publication Year :
- 2024
-
Abstract
- Backgroud: Li-Fraumeni syndrome is a hereditary tumor syndrome characterized by an elevated risk of malignancy, particularly acute lymphoblastic leukemia (ALL), which can be caused by the heterozygous germline mutation. TP53 gene germline mutation is considered a potential risk factor and crucial prognostic parameter for acute leukemia development and diagnosis, but rarely occurs in adults, and its specific pathogenic significance in acute leukemia is unclear.<br />Case Presentation: We describes a case of a 45-year-old woman diagnosed with ALL. Whole-exome sequencing approach identified one of the TP53 germline mutations from her bone marrow sample with possible pathogenic significance, c.848G>A (p.Arg283His) heterozygous missense mutation located on exon 8, which was further verified in her hair, oral mucous and nail samples. Family pedigree screening revealed that the same TP53 genetic variant was present in the patient's father and non-donor son, whereas not in the donor. Digital PCR observed that this point mutation frequency dropped post-transplantation but remained low during maintenance therapy when the patient was leukemia-free.<br />Conclusion: This suspected Li-Fraumeni syndrome case report with a likely pathogenic heterozygous TP53 variant expands the cancer genetic spectrum. Screening her family members for mutations facilitates identifying the optimal relative donor and avoids unnecessary treatment by monitoring TP53 germline mutations for minimal residual disease following hematopoietic stem cell transplantation. Its potential roles in hematological malignant tumor development and clinical pathogenic implications necessitate further probing.
- Subjects :
- Humans
Female
Middle Aged
Pedigree
Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma therapy
Tumor Suppressor Protein p53 genetics
Li-Fraumeni Syndrome genetics
Li-Fraumeni Syndrome diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1607-8454
- Volume :
- 29
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hematology (Amsterdam, Netherlands)
- Publication Type :
- Academic Journal
- Accession number :
- 39007733
- Full Text :
- https://doi.org/10.1080/16078454.2024.2377860