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Case report: TP53 c.848G>A germline mutation as a possible screening target at initial diagnosis for acute lymphoblastic leukemia.

Fang HuaYue HuGuang-Cui HeSi-Han LaiYing HeShan ZhangYan DengYing HanXiao-Dong LiuKun YangHui-Xiu ZhongJian XiaoZhong-Zheng ZhengHai Yi
Published in: Hematology (Amsterdam, Netherlands) (2024)
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.
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