具有介于原发性骨髓纤维化和慢性粒细胞白血病之间特征的骨髓增生异常/骨髓增生性肿瘤:病例系列和实体回顾

IF 0.9 Q4 HEMATOLOGY Hemato Pub Date : 2024-07-07 DOI:10.3390/hemato5030019
Arturo Bonometti, Simone Zanella, Daoud Rahal, Chiara Milanesi, Rossella Caselli, M. D. Della Porta, S. Uccella, S. Fraticelli
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引用次数: 0

摘要

目前,髓样肿瘤的诊断是根据专家们达成共识的一套预先确定的临床、形态学和分子诊断标准进行的。即使严格遵守这些标准,也有可能遇到一些患者的特征不容易归属于单一疾病类别。例如,新发髓系肿瘤患者的特征介于原发性骨髓纤维化(PMF)和慢性粒细胞白血病(CMML)之间。在这项研究中,我们回顾性地检索了IRCCS Humanitas研究医院的病理数据库,以确定具有典型骨髓增殖性肿瘤(MPN)驱动基因突变并显示MPN形态学特征的慢性粒细胞性单核细胞瘤病例。我们评估了每个病例的所有流行病学、临床、组织病理学和分子数据。然后,我们进行了文献综述,寻找与患者特征相似的病例。我们共检索到13例符合此类标准的病例(9例来自文献综述,4例来自本院);在所有这些病例中,骨髓增生异常和骨髓增生异常的临床、组织病理学和分子特征同时存在。迄今为止,根据目前的分类(世界卫生组织和国际共识分类),鉴于存在/不存在PMF或CMML的基本特征,这些患者应被正式诊断为骨髓增生异常/骨髓增生性肿瘤未分类/未另作说明(U/NOS)。本综述旨在总结这些疑难病例的特征,并根据新的分类方法和现有关于重叠性骨髓肿瘤的文献,讨论其鉴别诊断和分类方法。
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Myelodysplastic/Myeloproliferative Neoplasms with Features Intermediate between Primary Myelofibrosis and Chronic Myelomonocytic Leukemia: Case Series and Review of the Entity
Diagnosis of myeloid neoplasm is currently performed according to the presence of a predetermined set of clinical, morphological, and molecular diagnostic criteria agreed upon by a consensus of experts. Even strictly adhering to these criteria, it is possible to encounter patients who present features that are not easily ascribable to a single disease category. This is the case, e.g., of patients with de novo myeloid neoplasms with features intermediate between primary myelofibrosis (PMF) and chronic myelomonocytic leukemia (CMML). In this study, we retrospectively searched the pathological database of IRCCS Humanitas Research Hospital to identify cases of chronic myeloid neoplasm with monocytosis with a driver mutation of classic myeloproliferative neoplasms (MPN) and showing morphological MPN features. For each case, we assessed all epidemiological, clinical, histopathological, and molecular data. Then, we carried out a literature review, searching for cases with features similar to those of our patients. We retrieved a total of 13 cases presenting such criteria (9 from the literature review and 4 from our institution); in all of them, there was a coexistence of clinical, histopathological, and molecular myelodysplastic and myeloproliferative features. To date, according to current classifications (World Health Organization and International Consensus Classification), given the presence/absence of essential features for PMF or CMML, these patients should be formally diagnosed as myelodysplastic/myeloproliferative neoplasm unclassified/not otherwise specified (U/NOS). This review aims to summarize the features of these difficult cases and discuss their differential diagnosis and their classification according to the novel classifications and the existing literature on overlapping myeloid neoplasms.
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