b细胞淋巴细胞白血病和Li-Fraumeni综合征孕妇的治疗和反应评估挑战。

IF 1.3 Q4 HEMATOLOGY Journal of hematology Pub Date : 2023-04-01 DOI:10.14740/jh1107
Bjarte Skoe Erikstein, Aymen Bushra Ahmed, Rakel Brendsdal Forthun, Friedemann Leh, Bjørn Tore Gjertsen, Håkon Reikvam
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引用次数: 0

摘要

Li-Fraumeni综合征(LFS)是一种由致病性种系TP53基因突变引起的癌症易感综合征,对许多类型的癌症具有重要的治疗和预后意义。一小部分LFS患者在成年期发展为b细胞淋巴母细胞白血病(B-ALL)。标准治疗往往被证明是不够的,但免疫疗法提供了新的治疗选择。目前的病例报告提出了一个孕妇LFS和新诊断的B-ALL低二倍体治疗后发展为早发性乳腺癌。我们描述了治疗过程,治疗相关的并发症,并提供实验室数据至关重要的评估和修改治疗这一困难的临床病例。我们的研究结果支持临床医生和免疫表型专家之间密切合作的必要性。通过我们的报告,我们表明免疫治疗在LFS和B-ALL患者中是可行的,尽管对诱导治疗的初始反应较差。
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Treatment and Response Evaluation Challenges in a Pregnant Woman With B-Cell Lymphoblastic Leukemia and Li-Fraumeni Syndrome.

Li-Fraumeni syndrome (LFS) is a cancer predisposing syndrome caused by pathogenic germline TP53 gene mutations with important therapeutic and prognostic implications for many types of cancer. A small proportion of LFS patients develop B-cell lymphoblastic leukemia (B-ALL) in adult years. Standard treatment often proves inadequate, but immunotherapy has provided new treatment options. The current case report presents a pregnant woman with LFS and newly diagnosed B-ALL with hypodiploidy developed after treatment for early-onset breast cancer. We describe the treatment course, treatment-related complications and provide laboratory data crucial for evaluating and modifying treatment for this difficult clinical case. Our findings support the need for close collaboration between clinicians and experts on immunophenotyping. Through our report, we show that immunotherapy is feasible in patients with LFS and B-ALL, despite a poor initial response to induction therapy.

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Journal of hematology
Journal of hematology HEMATOLOGY-
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