Bernhard Strasser, Monika Grünberger, Rita Steindl, Sonja Heibl, Josef Thaler, Alexander Haushofer
{"title":"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。","authors":"Bernhard Strasser, Monika Grünberger, Rita Steindl, Sonja Heibl, Josef Thaler, Alexander Haushofer","doi":"10.3892/mco.2023.2658","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>BCR::ABL</i> 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.</p>","PeriodicalId":18737,"journal":{"name":"Molecular and clinical oncology","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/16/d1/mco-19-02-02658.PMC10345896.pdf","citationCount":"0","resultStr":"{\"title\":\"Differential diagnoses and the mutational landscape of myelodysplastic/myeloproliferative neoplasm with neutrophilia: A case report.\",\"authors\":\"Bernhard Strasser, Monika Grünberger, Rita Steindl, Sonja Heibl, Josef Thaler, Alexander Haushofer\",\"doi\":\"10.3892/mco.2023.2658\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>BCR::ABL</i> 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.</p>\",\"PeriodicalId\":18737,\"journal\":{\"name\":\"Molecular and clinical oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/16/d1/mco-19-02-02658.PMC10345896.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular and clinical oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3892/mco.2023.2658\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular and clinical oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3892/mco.2023.2658","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
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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