Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen
{"title":"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","authors":"Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen","doi":"10.1097/PCR.0000000000000344","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":"51 1","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum\",\"authors\":\"Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen\",\"doi\":\"10.1097/PCR.0000000000000344\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":43475,\"journal\":{\"name\":\"AJSP-Reviews and Reports\",\"volume\":\"51 1\",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2019-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"AJSP-Reviews and Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/PCR.0000000000000344\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"AJSP-Reviews and Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/PCR.0000000000000344","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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.