Toloraia Ani, Daraselia Dimitri, Gvamberia Ninaka, Todua Marika
Internal Medicine, Tbilisi State Medical University, Tbilisi, GEO.
Internal Medicine, Christliches Krankenhaus Quakenbrück (CKQ), Quakenbrück, DEU.
Cureus. 2025 May 12;17(5):e83978. doi: 10.7759/cureus.83978. eCollection 2025 May.
The coexistence of sarcoidosis and chronic myelomonocytic leukemia (CMML) is exceedingly rare and poses significant diagnostic challenges due to overlapping clinical, radiologic, and immunologic features. Sarcoidosis, a systemic granulomatous disorder driven by immune dysregulation, often manifests with lymphadenopathy, organomegaly, and elevated inflammatory biomarkers, while CMML is a clonal myeloid neoplasm characterized by monocytic proliferation and cytopenias. We report a case of CMML-1 in a 48-year-old man with a 14-year history of sarcoidosis, presenting with progressive dyspnea, and pancytopenia. Laboratory tests revealed unusual elevations in key immune markers, prompting further investigation. This case highlights the diagnostic pitfalls in distinguishing between granulomatous disease and clonal hematologic malignancy in patients with longstanding sarcoidosis. It underscores the importance of maintaining a high index of suspicion for myeloid neoplasms when unexplained cytopenias occur and emphasizes the emerging diagnostic utility of biomarkers such as sIL-2R in differentiating chronic immune activation from underlying clonal hematopoiesis.
结节病与慢性粒单核细胞白血病（CMML）并存极为罕见，由于临床、放射学和免疫学特征重叠，给诊断带来了重大挑战。结节病是一种由免疫失调驱动的全身性肉芽肿性疾病，常表现为淋巴结病、器官肿大和炎症生物标志物升高，而CMML是一种以单核细胞增殖和血细胞减少为特征的克隆性髓系肿瘤。我们报告一例48岁男性CMML-1病例，该患者有14年结节病病史，表现为进行性呼吸困难和全血细胞减少。实验室检查显示关键免疫标志物异常升高，促使进一步检查。该病例突出了在长期结节病患者中区分肉芽肿性疾病和克隆性血液系统恶性肿瘤时的诊断陷阱。它强调了在出现不明原因的血细胞减少时，对髓系肿瘤保持高度怀疑的重要性，并强调了诸如可溶性白细胞介素-2受体（sIL-2R）等生物标志物在区分慢性免疫激活与潜在克隆性造血方面新出现的诊断效用。
