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Blood Res 2021; 56(S1):
Published online April 30, 2021
https://doi.org/10.5045/br.2021.2020327
© The Korean Society of Hematology
Myelodysplastic syndrome with genetic predisposition
Correspondence to : Meerim Park, M.D, Ph.D.
Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang 10408, Korea
E-mail: meerim@ncc.re.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Myelodysplastic syndrome (MDS) refers to a heterogeneous group of clonal blood disorders characterized by ineffective hematopoiesis, cytopenia, dysplasia, and an increased risk of acute myeloid leukemia (AML). A growing number of inherited genetic loci that contribute to MDS/AML development are rapidly being identified. As genetic sequencing has become increasingly integrated into clinical practice, clearly defined syndromes have emerged, known as the MDS/AML predisposition syndrome. With more patients and families being identified with predisposing conditions, knowledge of the approach of evaluating and managing MDS with genetic predisposition is increasingly essential. This article reviews MDS with genetic predisposition and the practical aspects of management in patients with predisposition syndrome.
Keywords Myelodysplastic syndrome, Genetic predisposition
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Review Article
Blood Res 2021; 56(S1): S34-S38
Published online April 30, 2021 https://doi.org/10.5045/br.2021.2020327
Copyright © The Korean Society of Hematology.
Myelodysplastic syndrome with genetic predisposition
Meerim Park
Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, Goyang, Korea
Correspondence to:Meerim Park, M.D, Ph.D.
Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang 10408, Korea
E-mail: meerim@ncc.re.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Myelodysplastic syndrome (MDS) refers to a heterogeneous group of clonal blood disorders characterized by ineffective hematopoiesis, cytopenia, dysplasia, and an increased risk of acute myeloid leukemia (AML). A growing number of inherited genetic loci that contribute to MDS/AML development are rapidly being identified. As genetic sequencing has become increasingly integrated into clinical practice, clearly defined syndromes have emerged, known as the MDS/AML predisposition syndrome. With more patients and families being identified with predisposing conditions, knowledge of the approach of evaluating and managing MDS with genetic predisposition is increasingly essential. This article reviews MDS with genetic predisposition and the practical aspects of management in patients with predisposition syndrome.
Keywords: Myelodysplastic syndrome, Genetic predisposition
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Table 1 . Myelodysplastic syndrome with genetic predisposition..
Syndrome Pathogenesis Inheritance Known genes Non-hematologic findings Screening test Risk of MDS/AML Familial platelet disorder with predisposition to myeloid malignancy Transcription regulation AD RUNX1 None RUNX1 sequencing 35% ANKRD26-related thrombocytopenia MAPK signaling AD ANKRD26 None ANKRD26 sequencing 8% GATA2haploinsufficiency Transcription regulation AD GATA2 MonoMac syndrome (Monocytopenia, non-tuberculous mycobacterial and viral infections), Emgerger syndrome (lymphedema and monosomy 7), cutaneous warts, deafness GATA2 sequencing; bone marrow morphology and flow cytometry 50% DDX41-associated familial MDS/AML syndrome DEAD/H-box helicase AD DDX41 Long latency; presentation in >40 years old adults with high risk MDS and AML DDX41 sequencing Unknown SRP72-associated MDS SRP72 transcription factor AD SRP72 Congenital nerve deafness SRP72 sequencing Unknown ETV6-associated familial thrombocytopenia and hematologic malignancy ETV6 transcription factor AD ETV6 Thrombocytopenia, bleeding, macrocytosis, possible association with myopathy, GERD, esophageal stricture, reading disability ETV6 sequencing Unknown Abbreviations: AD, autosomal dominant; AML, acute myeloid leukemia; GERD, gastroesophageal reflux disease; MDS, myelodysplastic syndrome..
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