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Diagnostics and Prognostication of Myelodysplastic Syndromes

Gina Zini
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2017.11|Annals of Laboratory Medicine|제37권 제6호|pp. 465-474

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참고문헌

키워드

DiagnosisMyelodysplastic syndromes (MDS)WHO 2016 classificationPrognostication
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초록

MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as ‘founder’ mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.

Abstract

MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as ‘founder’ mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.

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관련 논문AI추천

Myelodysplastic Syndromes with Bone Marrow Fibrosis: An UpdateBennett John M., Jain Akriti G., Komrokji Rami, Zhang Ling대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호A Primary Care Approach to Myelodysplastic SyndromesDjamshed Samiev, Joel D. Armitage, Lori J Maness, Mojtaba Akhtari, Vijaya R. Bhatt대한가정의학회 · Korean Journal of Family Medicine2014 · 제35권 제3호유전자 검사 시대 골수형성이상증후군의 진단과 치료홍준식대한내과학회 · 대한내과학회지2024 · 제99권 제1호Assessing the Relevance of Non-molecular Prognostic Systems for Myelodysplastic Syndrome in the Era of Next-Generation SequencingAgriello Evangelina, Andreoli Verónica, Arbelbide Jorge, Asinari Mariana, Basquiera Ana Lisa, Belli Carolina B, Bender Andrea, Castro María Belén, Catalán Ana I, Delamer Rocío, Grille Sofia, Lincango Marco, Navickas Alicia, Orgueira Adrián Mosquera, Osorio María José Mela, Rahhal Marilina, Rivello Hernán García대한진단검사의학회 · Annals of Laboratory Medicine2025 · 제45권 제1호Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid LeukemiaBuic Daria, Erber Wendy N., Fuller Kathy A., Kendrick Tulene S.대한진단검사의학회 · Annals of Laboratory Medicine2025 · 제45권 제2호CD34 and p53 Immunohistochemical Stains Differentiate Hypocellular Myelodysplastic Syndrome (hMDS) from Aplastic Anemia and a CD34 Immunohistochemical Stain Provides Useful Survival Information for hMDS박찬정, 서을주, 서종진, 이규형, 이정희, 이제환, 임호준, 장성수, 조영욱, 지현숙, 차충환대한진단검사의학회 · Annals of Laboratory Medicine2014 · 제34권 제6호

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