Cao Xin-Xin, Li Jian, Cai Hao, Zhang Wei, Duan Ming-Hui, Zhou Dao-Bin
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Ann Hematol. 2017 Nov;96(11):1867-1871. doi: 10.1007/s00277-017-3094-7. Epub 2017 Aug 12.
This study is to retrospectively evaluate the prevalence of MYD88 and CD79B mutations and the clinicopathologic characteristics of patients with primary diffuse large B cell lymphoma (DLBCL) of the female genital tract and breast. The characteristics, treatments, and outcomes of 19 patients diagnosed with primary DLBCL of the female genital tract and breast, who had formalin-fixed and paraffin-embedded tissues obtained from diagnostic samples diagnosed between January 2004 and June 2016, were analyzed retrospectively. Nineteen female patients (7 with primary breast and 12 with primary female genital tract DLBCL) were included in this retrospective study. Eleven patients (57.9%) carried a MYD88 mutation, including 10 with MYD8 L265P and 1 with the MYD88 L265S mutation. Seven patients (36.8%) harbored a CD79B mutation, which included two cases with CD79B Y196H, two cases with CD79B Y196N, one case with CD79B Y196D, one case with CD79B Y196F, and one case with CD79B Y196X. Four cases had both MYD88 and CD79B mutations. The clinicopathologic parameters, progression-free survival (PFS), and overall survival (OS) of the MYD88 mutation-carrying group were not significantly different from those of the MYD88 wild-type group except for higher LDH levels. Six patients received cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP), while 13 patients received rituximab plus CHOP, and 13 patients received central nervous system prophylaxis. The median OS and PFS were 73 and 56 months, respectively. Patients with primary breast and primary female genital tract DLBCL have a high frequency of MYD88 and CD79B mutations. The presence of these mutations does not affect survival but may offer additional therapeutic options.
本研究旨在回顾性评估MYD88和CD79B基因突变的发生率以及女性生殖道和乳腺原发性弥漫性大B细胞淋巴瘤（DLBCL）患者的临床病理特征。对19例经诊断为女性生殖道和乳腺原发性DLBCL的患者进行回顾性分析，这些患者在2004年1月至2016年6月期间诊断，其诊断样本的组织采用福尔马林固定和石蜡包埋。本回顾性研究纳入了19例女性患者（7例原发性乳腺DLBCL和12例原发性女性生殖道DLBCL）。11例患者（57.9%）携带MYD88突变，其中10例为MYD8 L265P突变，1例为MYD88 L265S突变。7例患者（36.8%）存在CD79B突变，其中2例为CD79B Y196H突变，2例为CD79B Y196N突变，1例为CD79B Y196D突变，1例为CD79B Y196F突变，1例为CD79B Y196X突变。4例患者同时存在MYD88和CD79B突变。除乳酸脱氢酶（LDH）水平较高外，携带MYD88突变组的临床病理参数、无进展生存期（PFS）和总生存期（OS）与MYD88野生型组无显著差异。6例患者接受了环磷酰胺、多柔比星、长春新碱和泼尼松（CHOP）方案治疗，13例患者接受了利妥昔单抗联合CHOP方案治疗，13例患者接受了中枢神经系统预防治疗。中位OS和PFS分别为73个月和56个月。原发性乳腺和原发性女性生殖道DLBCL患者中MYD88和CD79B基因突变的频率较高。这些突变的存在不影响生存，但可能提供额外的治疗选择。
