Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Ann Lab Med. 2022 Nov 1;42(6):678-682. doi: 10.3343/alm.2022.42.6.678.
Systemic mastocytosis with associated hematological neoplasm (SM-AHN) poses diagnostic challenges because of the coexistence of atypical mast cell proliferation and hematological neoplasms. We assessed the presence of SM-AHN in patients with acute myeloid leukemia (AML) with from 2014 to 2020. Bone marrow (BM) samples were evaluated for mast cell aggregates using CD117 and CD25 immunohistochemical (IHC) staining. The D816V variant burden at diagnosis and post induction was assessed using droplet digital PCR. Among 23 patients diagnosed as having AML with , four (17.4%) were also diagnosed as having SM-AHN. No significant differences in clinical characteristics or overall survival (=0.565) were observed between patients with or without SM-AHN, except for the presence of variants (=0.040). After induction therapy, IHC staining revealed the presence of mast cell aggregates in the BM, and the D816V variant burden decreased with decreasing blast count and was similar in BM aspirates, smear slides, and sections. Concomitant SM-AHN was not infrequent in AML patients with . This study showed the importance of CD117 and CD25 IHC staining after induction chemotherapy for SM-AHN screening, especially in patients with variants.
伴有血液系统肿瘤的系统性肥大细胞增多症（SM-AHN）由于存在非典型肥大细胞增殖和血液系统肿瘤而具有诊断挑战。我们评估了 2014 年至 2020 年间患有急性髓系白血病（AML）的患者中是否存在 SM-AHN。使用 CD117 和 CD25 免疫组织化学（IHC）染色评估骨髓（BM）样本中肥大细胞聚集的情况。使用液滴数字 PCR 评估诊断时和诱导后后 D816V 变异负荷。在诊断为 AML 伴 的 23 例患者中，有 4 例（17.4%）也被诊断为 SM-AHN。患有或不患有 SM-AHN 的患者在临床特征或总生存方面没有显著差异（=0.565），除了 变体的存在（=0.040）。诱导治疗后，IHC 染色显示 BM 中存在肥大细胞聚集，并且 D816V 变异负荷随 blast 计数的减少而降低，在 BM 抽吸物、涂片、切片中相似。在 AML 患者中，同时发生 SM-AHN 并不罕见。本研究表明，在诱导化疗后进行 CD117 和 CD25 IHC 染色对于 SM-AHN 筛查非常重要，尤其是在存在 变体的患者中。
