Couto Maria Eduarda, Bizarro Susana, Sousa Domingos, Domingues Nelson, Oliveira Isabel, Martins Gabriela, Teixeira Manuel R, Mariz Mário
Onco-hematology Department, Instituto Português de Oncologia Do Porto F.G. E.P.E., Porto, Portugal.
Genetics Department, Instituto Português de Oncologia Do Porto F.G. E.P.E., Porto, Portugal.
Case Rep Hematol. 2020 Dec 21;2020:6670965. doi: 10.1155/2020/6670965. eCollection 2020.
Chronic lymphocytic leukemia (CLL) is frequently an indolent diagnosis, with most of the patients being under surveillance for long time. There is an increased risk of a second neoplasia in CLL, rarely hematological (in the myeloid lineage is even rarer). A 58-year-old male was diagnosed with CLL in 2012, remaining in regular surveillance until 2014. Then, the CLL progressed, and 6 cycles of rituximab, fludarabine, and cyclophosphamide were prescribed with partial response. He remained in surveillance and suffered 2 episodes of autoimmune hemolytic anemia until 2019. Then, the hemolytic anemia relapsed and a neutrophilia became evident (progressing slowly), as well as a thrombocytopenia and splenomegaly without adenopathy were found. The bone marrow aspirate showed a chronic myeloproliferative disease without dysplasia. A peripheral blood search for the mutation (T618I) was positive, also suggesting Chronic Neutrophilic Leukemia (CNL). For a discrete monocytosis, a chronic myelomonocytic leukemia (CMML) was also considered. Hydroxyurea was then prescribed. The T618I CSF3R mutation is highly suggestive of CNL (being diagnostic criteria for CNL); however, this case may also suggest CMML as a possible diagnosis (there are other mutations in the CSF3R gene described for CMML, but not the T618I, which is highly exclusive of CNL according to the literature). To our knowledge, this is the first report of a possible CNL in a CLL patient (the opposite was already described in 1998).
慢性淋巴细胞白血病（CLL）通常是一种进展缓慢的疾病，大多数患者需要长期接受监测。CLL患者发生第二种肿瘤的风险增加，血液系统肿瘤较为罕见（髓系肿瘤更为罕见）。一名58岁男性于2012年被诊断为CLL，直至2014年一直接受定期监测。随后，CLL病情进展，给予6个周期的利妥昔单抗、氟达拉滨和环磷酰胺治疗，部分缓解。他继续接受监测，直到2019年发生了2次自身免疫性溶血性贫血。然后，溶血性贫血复发，出现明显的中性粒细胞增多（进展缓慢），同时发现血小板减少和脾肿大，无淋巴结病。骨髓穿刺显示为无发育异常的慢性骨髓增殖性疾病。外周血检测 突变（T618I）呈阳性，也提示慢性中性粒细胞白血病（CNL）。由于存在轻度单核细胞增多，也考虑了慢性粒单核细胞白血病（CMML）。随后给予羟基脲治疗。T618I CSF３R突变高度提示CNL（是CNL的诊断标准）；然而，该病例也可能提示CMML为可能的诊断（文献中描述CMML的CSF３R基因存在其他突变，但不是T618I，根据文献，T618I高度特异性地见于CNL）。据我们所知，这是首例CLL患者可能发生CNL的报告（1998年已有相反情况的报道）。
