骨髓增生异常/骨髓增生性肿瘤伴中性粒细胞增多的鉴别诊断和突变景观:1例报告。

IF 1.4 Q4 ONCOLOGY Molecular and clinical oncology Pub Date : 2023-08-01 DOI:10.3892/mco.2023.2658
Bernhard Strasser, Monika Grünberger, Rita Steindl, Sonja Heibl, Josef Thaler, Alexander Haushofer
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引用次数: 0

摘要

骨髓增生异常/骨髓增生性肿瘤伴中性粒细胞增多(MDS/MPN-N;以前被称为非典型慢性髓性白血病)是一种骨髓增生异常综合征/骨髓增生性肿瘤。诊断的分子遗传学前提是BCR: ABL阴性;进一步的诊断标准包括临床病理评估,如外周血白细胞计数,中性粒细胞及其前体的数量,以及是否存在粒细胞生成异常。本病例报告强调了鉴别诊断的重要性,根据世界卫生组织第五版《淋巴类肿瘤分类》进行严格的诊断检查。对2013年至2022年涵盖MDS/MPN-N突变景观的文献进行了系统回顾,以突出该疾病分子遗传诊断的最新进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Differential diagnoses and the mutational landscape of myelodysplastic/myeloproliferative neoplasm with neutrophilia: A case report.

Myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS/MPN-N; previously referred to as atypical chronic myeloid leukemia) is a type of myelodysplastic syndrome/myeloproliferative neoplasm. A molecular genetic precondition for diagnosis is BCR::ABL negativity; further diagnostic criteria include clinicopathological assessments, such as peripheral blood leukocyte counts, the number of neutrophils and their precursors, and the presence of dysgranulopoiesis. The present case report highlights the importance of differential diagnoses with a stringent diagnostic workup according to the 5th Edition of the World Health Organization Classification of Hematolymphoid Tumors. A systematic review of the literature from 2013 to 2022 covering the mutational landscape of MDS/MPN-N was also performed to highlight recent improvements in the molecular genetic diagnostics of this disease.

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