Tokunaga Yoshihiro, Nakamura Yukinori, Ando Taishi, Katsuki Kensaku, Sakai Kohei, Fujioka Yuka, Nono Shota, Sasaki Takahiro, Yamamoto Kaoru, Akiyama Masaru, Kawakami Fumihiro, Kawakami Toru, Ishida Fumihiro, Ohta Yasuharu, Yujiri Toshiaki
Third Department of Internal Medicine, Yamaguchi University Hospital, Japan.
Division of Blood Transfusion, Yamaguchi University Hospital, Japan.
Intern Med. 2025 Feb 1;64(3):449-454. doi: 10.2169/internalmedicine.4076-24. Epub 2024 Aug 28.
A 64-year-old woman presented with agranulocytosis, anemia, and bacteremia, leading to a diagnosis of T-cell large granular lymphocytic leukemia (T-LGLL). A molecular analysis identified a signal transducer and activator of transcription 3 (STAT3) Y640F variant. Initial treatment with cyclophosphamide and prednisolone did not improve her condition, but serious infections were observed. The patient underwent cord blood transplantation (CBT) after preconditioning with fludarabine, busulfan, and total body irradiation, yielding a STAT3 Y640F variant disappearance, based on allele-specific quantitative polymerase chain reaction (AS-qPCR). In this case, CBT is a promising refractory T-LGLL treatment option, and the STAT3 Y640F variant AS-qPCR is a T-LGLL activity marker.
一名64岁女性出现粒细胞缺乏症、贫血和菌血症，最终被诊断为T细胞大颗粒淋巴细胞白血病（T-LGLL）。分子分析鉴定出一种信号转导和转录激活因子3（STAT3）Y640F变体。最初使用环磷酰胺和泼尼松龙治疗并未改善她的病情，反而观察到严重感染。该患者在接受氟达拉滨、白消安和全身照射预处理后进行了脐血移植（CBT），基于等位基因特异性定量聚合酶链反应（AS-qPCR），结果显示STAT3 Y640F变体消失。在这种情况下，CBT是一种有前景的难治性T-LGLL治疗选择，而STAT3 Y640F变体AS-qPCR是T-LGLL的活性标志物。
