Non-acute myeloid neoplasms (MNs) withNPM1mutations (NPM1mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypicalNPM1mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS.NPM1mutations occur in 3–5% of CMML and 1–6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs withNPM1mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact ofNPM1mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.
伴有NPM1突变的非急性髓系肿瘤（NPM1mut-MNs）在诊断和治疗上存在困境，其主要表现为慢性粒单核细胞白血病（CMML）和骨髓增生异常综合征（MDS）。关于此类疾病是否应归类为急性髓系白血病（AML）并采用相应治疗方案，目前仍存争议。本文描述了我们机构中的八例非典型NPM1mut-MNs病例，并结合文献进行了综述。其中包括一例罕见的并发前列腺癌且符合慢性嗜酸性粒细胞白血病特征的髓系肿瘤病例，该病例进展为皮肤髓系肉瘤。其余七例中，五例为CMML，两例为MDS。NPM1突变在CMML中的发生率为3–5%，在MDS中为1–6%，且此类突变会增加疾病快速进展为AML的可能性。其对疾病进展的影响存在差异，且在非急性髓系肿瘤中的预后意义不如在AML中明确。伴有NPM1突变的非急性髓系肿瘤可能呈现侵袭性临床病程，这强调了结合临床与生物学数据进行综合诊断的必要性。无论原始细胞比例如何，基于个体情况制定治疗方案，优先采用与AML方案一致的强化治疗至关重要。关于NPM1突变在非急性髓系肿瘤中影响的研究仍在进行中，需要通过具有挑战性的大规模患者队列前瞻性研究和长期随访来验证。
肿瘤(癌症)患者之家