CAR-T（CAR-T）细胞疗法在非肿瘤性疾病中的应用
Chimeric antigen receptor T (CAR-T) cell therapy in non-oncological diseases.
CAR-T（CAR-T）细胞在血液系统恶性肿瘤中的应用推动了这种免疫治疗形式的显著进展。
CELL INTELLIGENCE · 肿瘤细胞治疗研究
肿瘤细胞治疗研究
Rubinstein-Taybi 综合征患者中的近单倍体 B 细胞急性淋巴细胞白血病
英文原题：Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.
查看英文原题
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.
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中文摘要
Rubinstein-Taybi综合征（RSTS）是一种罕见疾病，特征包括发育迟缓、身材矮小、面容异常和骨骼异常。RSTS与多种恶性和良性肿瘤相关，但RSTS相关肿瘤的发生频率和特征尚不清楚。本文报告一例独特病例：一名6岁RSTS女孩患近单倍体B细胞淋巴母细胞白血病（B-ALL），携带可能致病的CREBBP变异。体细胞CREBBP变异在部分ALL亚型中富集；但此前尚未在儿童白血病中描述胚系CREBBP变异，这可能代表一种尚未充分识别的恶性肿瘤易感因素。患者对常规化疗反应较差，并在接受CD19 CAR-T 细胞治疗达到完全缓解后复发。我们推测，胚系CREBBP变异可能在白血病化疗耐药及患者治疗反应不佳中发挥重要作用。
展开英文摘要原文
Rubinstein-Taybi syndrome (RSTS) is a rare disorder characterized by developmental delay, short stature, dysmorphic facies and skeletal abnormalities. RSTS has been linked to a variety of malignant and benign tumors, but the frequency and characteristics of RSTS-related neoplasms remain unclear.
We describe a unique case of near haploid B-cell lymphoblastic leukemia (B-ALL) in a 6-year-old girl with RSTS who harbors a likely pathogenic variant in CREBBP . Somatic CREBBP variants are enriched in some subsets of ALL; however, germline variants have not been previously described in childhood leukemia and may represent an underrecognized predisposition to malignancy.
Our patient's disease responded poorly to conventional chemotherapy and relapsed following a complete remission achieved with CD19 CAR T cell therapy.
We propose that the constitutional CREBBP variant may have played a significant role in the leukemia's resistance to chemotherapy and this patient's poor response to therapy.
论文信息
- 作者
- Kurtz KJ、Tallis E、Marcogliese AN、Pulivarthi RH、Potocki L、Stevens AM
- 单位
- Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.United States
- 文献类型
- 病例报告 · 读者来信
- 期刊
- Pediatric hematology and oncology2022 Nov
- 原文标识
- PubMed 35275800 · DOI 10.1080/08880018.2022.2049938