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

被引：0
作者：
Strasser, Bernhard [1 ,4 ]
Gruenberger, Monika [1 ]
Steindl, Rita [2 ]
Heibl, Sonja [3 ]
Thaler, Josef [3 ]
Haushofer, Alexander [1 ]
机构：
[1] Hosp Wels Grieskirchen, Inst Lab Med, A-4600 Wels, Austria
[2] Hosp Wels Grieskirchen, Dept Mol Biol, A-4600 Wels, Austria
[3] Hosp Wels Grieskirchen, Dept Internal Med 5, A-4600 Wels, Austria
[4] Hosp Wels Grieskirchen, Inst Lab Med, 42 Grieskirchnerstr, A-4600 Wels, Austria
来源：
MOLECULAR AND CLINICAL ONCOLOGY | 2023年 / 19卷 / 02期
关键词：
myelodysplastic; myeloproliferative neoplasm; atypical chronic myeloid leukemia; mutational landscape; CHRONIC MYELOID-LEUKEMIA; ATYPICAL CML; FEATURES;
D O I：
10.3892/mco.2023.2658
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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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