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Frontiers in Medical Science Research, 2022, 4(10); doi: 10.25236/FMSR.2022.041010.

Progress in diagnostic staging of myelodysplastic syndrome


Qizhuo Hou1, Kongzhen Gu1,2

Corresponding Author:
Kongzhen Gu

1Xiangya School of Medicine, Central South University, Changsha, 410031, Hunan, China

2Department of Laboratory Medicine, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan, China


Myelodysplastic syndromes (MDS) are a group of acquired heterogeneous clonal disorders that originate from hematopoietic stem cells. It is characterized by a reduction in one or more blood lines in the myeloid system with abnormal development, pathological hematopoiesis and a high risk of transformation to acute myeloid leukemia (AML). In 2016, the World Health Organization (WHO) revised the diagnostic staging criteria for MDS, but with the development of next-generation sequencing (NGS) technology, the diagnostic staging of MDS has opened a new era of accurate diagnosis and individualized treatment. In this paper, we review the diagnostic typing of MDS.


Myelodysplastic syndrome; diagnostic typing; next-generation sequencing technology; precise diagnosis

Cite This Paper

Qizhuo Hou, Kongzhen Gu. Progress in diagnostic staging of myelodysplastic syndrome. Frontiers in Medical Science Research (2022) Vol. 4, Issue 10: 56-61. https://doi.org/10.25236/FMSR.2022.041010.


[1] Ding YB, Tang YF, Tang XD. Progress in the study of gene mutations in myelodysplastic syndromes [J]. Journal of Clinical and Experimental Pathology, 2021, 37(02): 198-201.

[2] Valent P, Orazi A, Steensma D P, et al. Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions [J]. Oncotarget, 2017, 8(43): 73483-500.

[3] Arber D A, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [J]. Blood, 2016, 127(20): 2391-405.

[4] Xiao CJ. Methodology for the diagnosis of myelodysplastic syndromes: current status and issues [J]. International Journal of Blood Transfusion and Hematology, 2019, (02): 93-7.

[5] Wang R. Diagnostic value analysis of bone marrow biopsy histopathology in myelodysplastic syndrome [J]. China Medical Guide, 2019, 17(26): 143.

[6] Wang YJ. The application of bone marrow smear combined with bone marrow biopsy, immunophenotyping and cytogenetics in the diagnosis of myelodysplastic syndrome [D]. Ningxia Medical University, 2019.

[7] Chinese Society of Hematology C M A. Chinese guidelines for diagnosis and treatment of myelodysplastic syndromes (2019) [J]. Zhonghua Xue Ye Xue Za Zhi, 2019, 40(2): 89-97.

[8] Ouyang F, Ye SH, Cheng Zhaomin, et al. Diagnostic value of flow cytometry score system for myelodysplastic syndromes [J]. International Journal of Medicine and Health, 2020, 26(13): 1836-8.

[9] Xiao ZJ. Application of second-generation sequencing for detection of gene mutations in myelodysplastic syndromes: current status and problems [J]. Oncology Research, 2021, 48(11): 985-8.

[10] Greenberg P L, Stone R M, Al-Kali A, et al. NCCN Guidelines(R) Insights: Myelodysplastic Syndromes, Version 3.2022 [J]. J Natl Compr Canc Netw, 2022, 20(2): 106-17.

[11] Killick S B, Wiseman D H, Quek L, et al. British Society for Haematology guidelines for the diagnosis and evaluation of prognosis of Adult Myelodysplastic Syndromes [J]. Br J Haematol, 2021, 194(2): 282-93.

[12] van de Loosdrecht A A, Mandac Smoljanovic I. EHA Endorsement of ESMO Clinical Practice Guidelines for Diagnosis, Treatment, and Follow-up for Myelodysplastic Syndromes [J]. Hemasphere, 2022, 6(3): e695.

[13] Vardiman J. The classification of MDS: from FAB to WHO and beyond [J]. Leuk Res, 2012, 36(12): 1453-8.

[14] Ogata K. Diagnostic flow cytometry for low-grade myelodysplastic syndromes [J]. Hematol Oncol, 2008, 26(4): 193-8.

[15] Ogata K, Sei K, Saft L, et al. Revising flow cytometric mini-panel for diagnosing low-grade myelodysplastic syndromes: Introducing a parameter quantifying CD33 expression on CD34+ cells [J]. Leuk Res, 2018, 71: 75-81.

[16] Mathis S, Chapuis N, Debord C, et al. Flow cytometric detection of dyserythropoiesis: a sensitive and powerful diagnostic tool for myelodysplastic syndromes [J]. Leukemia, 2013, 27(10): 1981-7.

[17] Guo J, Wang H, Xiong S, et al. Simplified flow cytometry scoring for diagnosis and prognosis of myelodysplastic symptom [J]. Am J Transl Res, 2020, 12(11): 7449-58.

[18] Gurnari C, Pagliuca S, Visconte V. Alternative Splicing in Myeloid Malignancies [J]. Biomedicines, 2021, 9(12).

[19] Malcovati L, Stevenson K, Papaemmanuil E, et al. SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS [J]. Blood, 2020, 136(2): 157-70.

[20] Kennedy A L, Shimamura A. Genetic predisposition to MDS: clinical features and clonal evolution [J]. Blood, 2019, 133(10): 1071-85.

[21] Bersanelli M, Travaglino E, Meggendorfer M, et al. Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes [J]. J Clin Oncol, 2021, 39(11): 1223-33.