Department of Haematology, Guys Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
Department of Histopathology, Charing Cross Hospital, Imperial College Healthcare NHS Trust, London, UK.
Best Pract Res Clin Haematol. 2022 Jun;35(2):101380. doi: 10.1016/j.beha.2022.101380. Epub 2022 Sep 14.
Systemic mastocytosis is a rare disease which is being better recognized and managed. While the vast majority of patients have indolent disease with variable symptom burden, a small proportion evolve or present with aggressive disease. This may be due to increases in mast cell burden (leukemic, associated with tumour masses) or more commonly due to the presence of an additional hematologic neoplasm (SM-AHN). These patients with advanced systemic mastocytosis have poor outcome; however, recent advances in diagnosis, molecular genetics and treatment have changed the prognostic landscape for this group of patients. In this review we address the most topical questions related to diagnostics, classification, new disease entities, treatment and multiparameter prognostic scoring systems.
系统性肥大细胞增多症是一种罕见疾病，其诊断和治疗方法也在不断发展。虽然绝大多数患者的疾病处于惰性阶段，症状表现也不尽相同，但仍有一小部分患者的病情会发展或呈现侵袭性。这种情况可能是由于肥大细胞负担增加（白血病，伴有肿瘤肿块），或更常见的是由于存在其他血液系统肿瘤（SM-AHN）。这些患有晚期系统性肥大细胞增多症的患者预后较差；然而，近年来在诊断、分子遗传学和治疗方面的进展改变了这一组患者的预后情况。在这篇综述中，我们将讨论与诊断、分类、新疾病实体、治疗和多参数预后评分系统相关的最热门问题。
