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Background: The aim of the study was to improve the clinical cognition of nonaccelerating myelodysplastic/myeloproliferative neoplasms-unclassifiable (MDS/MPN-U) with 5q- karyotype and to avoid misdiagnosis or delayed diagnosis.
Methods: The clinical manifestations and laboratory results of a patient with nonaccelerating MDS/MPN-U with 5q- karyotype were analyzed, and related literature was reviewed.
Results: The patient was admitted to hospital mainly due to chest tightness and shortness of breath, aggravated for 4 days. After admission, combined with clinical manifestations, bone marrow cell morphology, immunology, multiparameter flow cytometry, cytogenetics and molecular biology, etc., the final diagnosis was MDS-MPN-U.
Conclusions: Research on the correlation between MPN-U and MDS with 5q deletion is still needed. Clinically, MPN-U combined with MDS is prone to misdiagnosis. In diagnosing MPN-U patients, it is essential to not only complete routine and immunological tests but also consider clinical manifestations and laboratory results. It is crucial to be vigilant about the possibility of concurrent diseases, especially cancer, and to choose targeted examinations in a timely manner to avoid missed or incorrect diagnoses.
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http://dx.doi.org/10.7754/Clin.Lab.2024.240506 | DOI Listing |
Discov Oncol
June 2025
Department of Hematology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou, 730000, China.
Objective: This study aims to investigate the interaction between common gene and 5q- chromosome karyotype mutations and the immune microenvironment in myelodysplastic syndromes (MDS), and explore the potential prognostic value of immune markers in MDS.
Methods: A total of 83 MDS patients treated at the Second Hospital of Lanzhou University between January 2019 and April 2024 were enrolled in this study. Patients were divided into mutation and wild-type groups based on gene mutations and the presence of 5q- chromosomal abnormalities.
Blood Neoplasia
May 2025
Department of Malignant Hematology, Moffitt Cancer Center, Tampa, FL.
Most myelodysplastic syndromes/neoplasms (MDS) risk stratification models dichotomize conventional cytogenetic abnormalities into present or absent, neglecting the prognostic impact of clone size (percentage of the total cells/metaphases harboring the chromosome abnormality). We investigated the prognostic value of clone size in 1001 patients with MDS using G-banding and fluorescence in situ hybridization. Clone size correlated with anemia severity and thrombocytosis in del(5q) cases, and with anemia and blast percentage in complex karyotypes.
View Article and Find Full Text PDFAccording to the European LeukemiaNet (ELN) 2022 classification, acute myeloid leukemia (AML) patients with intermediate or adverse risk are offered allogeneic hematopoietic stem cell transplantation (allo-HSCT) in first remission. In this EBMT study, we included 1735 adult AML patients with ELN-2022 adverse-risk cytogenetics allografted between 2010 and 2022 in first remission (67% de novo AML, median age 56 years). Eleven non-overlapping adverse-risk cytogenetics groups were defined.
View Article and Find Full Text PDFBlood Cancer J
May 2025
MLL Munich Leukemia Laboratory, Munich, Germany.
Zhonghua Xue Ye Xue Za Zhi
March 2025
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes o
To compare the clinical and laboratory characteristics and survival between Chinese and Western patients with myelodysplastic neoplasms (MDS) . Clinical and laboratory data were collected from 1,464 primary adult patients diagnosed with MDS at the Institute of Hematology & Blood Diseases Hospital from August 2016 to June 2024. Collected data were retrospectively analyzed and compared with 2,191 patients from the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM) .
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