Albi Elisa, Baldoni Stefano, Aureli Patrizia, Dorillo Erica, Del Papa Beatrice, Ascani Stefano, Di Ianni Mauro, Falzetti Franca, Sportoletti Paolo
Institute of Hematology, Centro di Ricerche Emato-Oncologiche (CREO), University of Perugia, Perugia - Italy.
Hematology Section, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila - Italy.
Tumori. 2017 Nov 15;103(Suppl. 1):e37-e40. doi: 10.5301/tj.5000667.
Richter syndrome (RS) is a rare event in chronic lymphocytic leukemia (CLL) that is influenced by biological factors and prior CLL treatments. Ibrutinib is a Bruton tyrosine kinase inhibitor that has shown remarkable efficacy in CLL; however, little is known about its relationship to RS. We report a case of ibrutinib efficacy against CLL in a patient with prolonged remission of RS.
The patient was diagnosed with CLL in 2003. Biological findings at onset included absent ZAP70 expression, mutated IGVH, and NOTCH1 mutation. He was treated with FCR with partial response. In 2013, he progressed to RS, not clonally related to the underlying CLL. The patient was treated with anthracycline- and platinum-based regimens, obtaining a complete remission. After 3 years, he presented a CLL progression with worsening lymphocytosis, anemia, thrombocytopenia, increased splenomegaly, and lymphadenopathies. Positron emission tomography-computed tomography scan excluded pathologic uptake. Thus, he was started on ibrutinib.
At 12 months' follow-up, we observed white blood cell normalization, increased hemoglobin and platelet levels, disappearance of lymphadenopathy, and spleen size reduction. Therapy was well-tolerated with no evidence of RS.
This case demonstrates sustained RS remission in a patient with CLL under ibrutinib therapy, thus improving our knowledge on the use of this new drug in CLL and beyond.
里氏综合征（RS）是慢性淋巴细胞白血病（CLL）中的罕见事件，受生物学因素和既往CLL治疗的影响。伊布替尼是一种布鲁顿酪氨酸激酶抑制剂，已在CLL中显示出显著疗效；然而，其与RS的关系知之甚少。我们报告一例伊布替尼对CLL有效的病例，该患者的RS获得长期缓解。
该患者于2003年被诊断为CLL。发病时的生物学检查结果包括ZAP70表达缺失、IGVH突变和NOTCH1突变。他接受了FCR治疗，部分缓解。2013年，他进展为RS，与潜在的CLL无克隆相关性。该患者接受了蒽环类和铂类方案治疗，获得完全缓解。3年后，他出现CLL进展，伴有淋巴细胞增多、贫血、血小板减少、脾肿大加重和淋巴结病恶化。正电子发射断层扫描计算机断层扫描排除了病理性摄取。因此，他开始使用伊布替尼治疗。
在12个月的随访中，我们观察到白细胞恢复正常、血红蛋白和血小板水平升高、淋巴结病消失以及脾脏大小缩小。治疗耐受性良好，无RS证据。
本病例显示了一名接受伊布替尼治疗的CLL患者的RS持续缓解，从而增进了我们对这种新药在CLL及其他疾病中应用的了解。
