Nawata Ryohei, Sugiyama Akiko, Harada Keisuke, Shinohara Kenji, Yujiri Toshiaki
Department of Hematology, Japan Community Healthcare Organization (JCHO) Shimonoseki Medical Center.
Department of Medicine, Towa Municipal Hospital.
Rinsho Ketsueki. 2019;60(8):903-909. doi: 10.11406/rinketsu.60.903.
A 78-year-old man with anemia (Hb 9.6 g/dl) and elevated serum immunoglobulin M (IgM 3,577 mg/dl) levels was referred to our hospital. Bone marrow aspiration yielded a dry tap, and bone marrow biopsy revealed the infiltration of CD20 positive lymphoplasmacytic lymphoma cells and myelofibrosis. The patient was diagnosed with Waldenström's macroglobulinemia complicated with myelofibrosis. TGF-β plasma concentration was elevated. Further, after chemotherapy with bendamustine and rituximab, remission of both Waldenström's macroglobulinemia and myelofibrosis was achieved, and TGF-β levels normalized. MYD88 L265P mutation was detected using highly sensitive digital PCR, which compared with currently used direct PCR product sequencing, has a superior sensitivity. The use of digital PCR has additional advantages toward MYD88 L265P detection, particularly when the available amount of sample DNA is limited owing to myelofibrosis.
一名78岁男性，伴有贫血（血红蛋白9.6 g/dl）和血清免疫球蛋白M水平升高（IgM 3577 mg/dl），被转诊至我院。骨髓穿刺呈干抽，骨髓活检显示CD20阳性淋巴浆细胞淋巴瘤细胞浸润及骨髓纤维化。该患者被诊断为华氏巨球蛋白血症合并骨髓纤维化。转化生长因子-β（TGF-β）血浆浓度升高。此外，在接受苯达莫司汀和利妥昔单抗化疗后，华氏巨球蛋白血症和骨髓纤维化均获缓解，TGF-β水平恢复正常。使用高灵敏度数字PCR检测到MYD88 L265P突变，与目前使用的直接PCR产物测序相比，其灵敏度更高。数字PCR在检测MYD88 L265P方面具有额外优势，尤其是当由于骨髓纤维化导致样本DNA可用量有限时。
