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Myelodysplastic syndrome

Última revisión: 4 Mar 2025
Última actualización: 31 Jan 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • older age
  • fatigue
  • exercise intolerance
  • pallor
  • bruising or bleeding
  • prior chemotherapy and/or radiation therapy
  • congenital disorder
  • bacterial infections
Todos los datos

Otros factores de diagnóstico

  • autoimmune disorders
  • splenomegaly
  • hepatomegaly
  • lymphadenopathy
Todos los datos

Factores de riesgo

  • age >70 years
  • prior chemotherapy
  • prior radiation therapy
  • prior autologous hematopoietic stem cell transplantation
  • congenital disorders
  • tobacco
  • benzene
  • aplastic anemia
  • paroxysmal nocturnal hemoglobinuria (PNH)
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • CBC with differential
  • peripheral blood smear
  • reticulocyte count
  • red blood cell folate
  • serum vitamin B12
  • iron studies
  • bone marrow aspiration with iron stain
  • bone marrow core biopsy
  • genetic testing
Todos los datos

Tests to avoid

  • fluorescence in situ hybridization (FISH)
Todos los datos

Pruebas diagnósticas que deben considerarse

  • viral serology
  • serum erythropoietin
  • lactate dehydrogenase
  • HLA typing
  • flow cytometry
Todos los datos

Algoritmo de tratamiento

Agudo

lower-risk disease: asymptomatic

lower-risk disease: MDS-5q (del(5q) ± one other cytogenetic abnormality except those involving chromosome 7) with symptomatic anemia

lower-risk disease: MDS-SF3B1 (no del(5q) ± other cytogenetic abnormalities with ring sideroblasts ≥15% [or ≥5% with an SF3B1 mutation]) with symptomatic anemia

lower-risk disease: no del(5q) with ring sideroblasts <15% (or <5% with an SF3B1 mutation) with symptomatic anemia

lower-risk disease: with clinically relevant thrombocytopenia or neutropenia (without symptomatic anemia)

higher-risk disease: transplant candidate

higher-risk disease: nontransplant candidate

Colaboradores

Autores

Vijaya Raj Bhatt, ​MBBS, MS

​​Associate Professor

Section Leader, Malignant Hematology

University of Nebraska Medical Center Division of Hematology-Oncology

Nebraska

NE

Divulgaciones

VRB has participated in a Safety Monitoring Committee for Protagonist Therapeutics and served as an Associate Editor for the journal Current Problems in Cancer. He has received consulting fees from Taiho, Sanofi, Imugene, Genentech, Incyte, Servier Pharmaceuticals, and AbbVie; research funding (institutional) from MEI Pharma, Actinium Pharmaceutical, Sanofi, AbbVie, Pfizer, Incyte, Jazz, and NMDP; and drug support (institutional) from Chimerix for a trial.

Prajwal Dhakal, MBBS

Clinical Assistant Professor of Internal Medicine-Hematology, Oncology, and Blood and Marrow Transplantation

University of Iowa

Iowa City

IA

Divulgaciones

PPD has been reimbursed by the Aplastic Anemia and MDS International Foundation for presenting on the topic "High-risk MDS: non-transplant therapies, current therapies, and clinical trials" in a patient and family conference. PD has received consulting fees from AbbVie pharmaceuticals.

Agradecimientos

Dr Vijaya Raj Bhatt and Dr Prajwal Dhakal would like to gratefully acknowledge Professor Apar Kishor Ganti and Associate Professor Alissa Marr, previous contributors to this topic.

Divulgaciones

AKG has received research support from Amgen, Apexigen, Bristol-Myers Squibb, Janssen, Merck, New Link Genetics, Pfizer, and Takeda Oncology. AKG has been reimbursed for consulting work for AbbVie and Genentech. None of the grants or payments relate to work involving myelodysplastic syndrome. AM declares that she has no competing interests.

Revisores por pares

David P. Steensma, MD, FACP

Associate Professor of Medicine (Hematology) and Oncology

Division of Hematology

Department of Medicine

Mayo Clinic

Rochester

MN

Divulgaciones

DPS declares that he has no competing interests.

Adrian C. Newland, BA, MB, BCh, MA, FRCP, FRCPath

Professor of Haematology

Queen Mary University

London

UK

Divulgaciones

ACN declares that he has no competing interests.

  • Myelodysplastic syndrome images
  • Diferenciales

    • Aplastic anemia
    • HIV infection
    • Other viral infections (e.g., parvovirus, CMV, or hepatitis)
    Más Diferenciales
  • Guías de práctica clínica

    • NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
    • British Society for Haematology guidelines for the management of adult myelodysplastic syndromes
    Más Guías de práctica clínica
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