Zanelli Magda, Quintini Martina, Magnasco Salvatore, Aprile Lara, Palicelli Andrea, Zizzo Maurizio, Sanguedolce Francesca, Ricci Stefano, Pancetti Saverio, Zuccalà Valeria, Martino Veronica, Broggi Giuseppe, Caltabiano Rosario, Cavazza Alberto, Parente Paola, Mecucci Cristina, Martino Giovanni, Ascani Stefano
Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Hematology, Centro di Ricerca Emato-Oncologica-C.R.E.O., University of Perugia, 06129 Perugia, Italy.
Cancers (Basel). 2023 Mar 8;15(6):1664. doi: 10.3390/cancers15061664.
Mast cell leukemia (MCL) is the leukemic form of SM with at least 20% mostly immature mast cells on bone marrow aspirate. MCL may develop de novo, in the absence of a prior SM, or it may represent a progression from a previous SM. MCL may be sub-divided into the more frequent, aggressive acute form with signs of organ damage (C-findings) and the chronic form lacking C-findings and presenting a more stable course, although over time, progression to acute MCL is common. The 2022 WHO subtype of MCL with an associated hematological neoplasm was renamed MCL with an associated myeloid neoplasm in the 2022 International Consensus Classification (ICC). The relevance of the distinction between the leukemic and aleukemic forms based on the percentage of circulating mast cells is a matter of debate. The current knowledge on MCL is restricted mainly to single reports or case series with a limited number of larger studies. Our aim is to provide a comprehensive overview of this rare disease in terms of clinical manifestations, morphology, phenotype, molecular characteristics, differential diagnosis, outcome and treatment. A general overview on mastocytosis is also included.
肥大细胞白血病（MCL）是系统性肥大细胞增多症（SM）的白血病形式，骨髓穿刺涂片上至少有20%主要为未成熟肥大细胞。MCL可原发性发生，即无前驱SM，也可能是先前SM进展而来。MCL可分为更常见、侵袭性的急性型，伴有器官损害体征（C发现），以及缺乏C发现、病程更稳定的慢性型，不过随着时间推移，进展为急性MCL很常见。2022年世界卫生组织（WHO）中与相关血液肿瘤相关的MCL亚型在2022年国际共识分类（ICC）中被重新命名为与相关髓系肿瘤相关的MCL。基于循环肥大细胞百分比区分白血病型和非白血病型的相关性存在争议。目前关于MCL的知识主要限于单个报告或病例系列，大型研究数量有限。我们的目的是从临床表现、形态学、表型、分子特征、鉴别诊断、转归和治疗方面对这种罕见疾病进行全面概述。还包括对肥大细胞增多症的总体概述。
