Innocenti Idanna, Rossi Davide, Trapè Giulio, Autore Francesco, Larocca Luigi Maria, Gomes Vincenzo, Cerri Michaela, Falcucci Paolo, Sica Simona, Gaidano Gianluca, Laurenti Luca
Institue of Hematology, Università Cattolica del Sacro Cuore, Rome, Italy.
Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
Hematol Oncol. 2018 Feb 27. doi: 10.1002/hon.2502.
Richter syndrome, a transformation of chronic lymphocytic leukemia (CLL) into a diffuse large B-cell lymphoma, is a rare complication of patients treated with chemo-immunotherapy. Richter syndrome might be both clonally related or unrelated to the underlying CLL and often showed mutations of the TP53 and NOTCH1 genes. Recently, ibrutinib was approved for patients with relapsed/refractory CLL or for untreated CLL patients with del 17p or TP53 mutation. The clinical picture, pathology, and genetics of Richter transformation after IBR treatment are largely unknown. Here, we report 2 cases of Richter transformation after Ibrutinib treatment. As just reported by previous report, Richter syndrome developing after ibrutinib therapy lacked resistance mutations of the BTK and PLCG2 genes, which are clonally related to the pre-existent CLL phase representing transformation from CLL. Richter syndrome after ibrutinib seems to have some peculiar clinical findings as the bone marrow predilection, severe hypercalcemia, and a more aggressive outcome.
里氏综合征是慢性淋巴细胞白血病（CLL）转化为弥漫性大B细胞淋巴瘤，是接受化学免疫治疗患者的一种罕见并发症。里氏综合征可能与潜在的CLL克隆相关或不相关，且常表现出TP53和NOTCH1基因的突变。最近，依鲁替尼被批准用于复发/难治性CLL患者或未经治疗的伴有17p缺失或TP53突变的CLL患者。依鲁替尼治疗后里氏转化的临床表现、病理及遗传学情况大多未知。在此，我们报告2例依鲁替尼治疗后发生里氏转化的病例。正如之前报告所述，依鲁替尼治疗后发生的里氏综合征缺乏BTK和PLCG2基因的耐药突变，这些突变与先前存在的CLL期克隆相关，代表了从CLL的转化。依鲁替尼治疗后的里氏综合征似乎有一些特殊的临床发现，如骨髓受累、严重高钙血症及更具侵袭性的转归。
