无法分类的骨髓增生异常/骨髓增生性肿瘤伴细胞增多:一个分类难题

IF 0.2
Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen
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引用次数: 0

摘要

骨髓增生异常/骨髓增生性肿瘤(MPN),不可分类(MDS/MPN- u),具有骨髓增生异常综合征(MDS)和骨髓增生性肿瘤(MPN)的临床和形态学特征,不符合MDS、MPN或MPN中任何其他特定实体的诊断标准,包括治疗相关的骨髓性肿瘤,以及从既往MDS或MPN发展而来的病例。MDS/MPN-U的诊断标准包括,除其他规格外,血小板计数大于或等于45010e9 /L与骨髓巨核细胞增殖相关。我们提出的情况下,一个年轻的成年患者与几年的历史报告的血细胞减少,发现有血小板增多和5%的循环母细胞。令人惊讶的是,他的骨髓活检显示细胞增生(10%),有5%至10%的原细胞,髓样发育不全,轻微纤维化,局灶性巨核细胞发育不良,但未见增生。形态学和临床特征的集合提出了MDS/MPN-U和MDS与过多的原细胞(以及血小板增多)之间具有挑战性的鉴别诊断。有趣的是,分子检测显示sf3b1突变,尽管铁染色未发现环状铁母细胞增加。这些病例可能有助于我们更好地理解MDS/MPN类型,以及MDS/MPN与骨髓异常增生的关系,以及骨髓瘤背后复杂的分子遗传格局。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum
Myelodysplastic/myeloproliferative neoplasm (MPN), unclassifiable (MDS/MPN-U), has clinical and morphologic features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs), and does not meet diagnostic criteria for any other specific entity within MDS, MPN, or MPN, including therapy-related myeloid neoplasms, and cases evolving from a prior MDS or MPN. Diagnostic criteria for MDS/MPN-U include, among other specifications, a platelet count of greater than or equal to 450 10E9/L associatedwith bonemarrowmegakaryocytic proliferation. We present the case of a young adult patient with a several-year reported history of cytopenias, found to have thrombocytosis and 5% circulating blasts. Surprisingly, his bone marrow biopsy demonstrated hypocellularity (10%), with 5% to 10% blasts, myeloid hypoplasia, minimal fibrosis, and focal megakaryocytic dyspoiesis but no hyperplasia. The constellation of morphologic and clinical features presents a challenging differential diagnosis between MDS/MPN-U and MDS with excess blasts (as well as thrombocytosis). Molecular testing interestingly demonstrated an SF3B1mutation, although no increased ring sideroblasts were found by iron staining. Cases such as these may prove instructive in refining our understanding of the MDS/MPN category, as well as its relationship to myelodysplasia and the complex molecular genetic landscape underlying myeloid neoplasia.
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期刊介绍: Each issue of Pathology Case Reviews examines one vital theme in the field with peer-reviewed, clinically oriented case reports that focus on diagnosis, specimen handling and reports generation. Each theme-oriented issue covers both histopathologic and cytopathologic cases, offering a comprehensive perspective that includes editorials and review articles of the newest developments in the field, differential diagnosis hints, applications of new technologies, reviews of current issues and techniques and an emphasis on new approaches.
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